NF2 Research and Media News in 2015

NF2 In the Media:

Family bravely copes with daughter living with ‘little ticking time bombs’

Posted:Wed, 09 Dec 2015 11:30:00 EST

The only way to describe it is to compare it to living with “little ticking time bombs.” That’s the image shared by Donna Baruchi about what it’s like watching her daughter Tori suffer from a disease that causes tumors – that can occur anytime, anywhere, even in multiples – to grow in the nervous system. Tori, a vivacious 13-year-old girl who loves tap dancing and writing, has a genetic disorder called NF2 or neurofibromatosis type 2. “As my husband puts it, ‘we live our life between MRIs,’ which is a horrible way. If we come out with a good scan, it’s like yeah, now for three months we can just go and have fun and relax until the next one. I always feel like I’m holding my breath between them and hoping that we’re not going to get bad news.”

Canadian First: UHN Opens Multidisciplinary Clinic on Genetic Disorder

Posted:Wed, 09 Dec 2015 10:30:00 EST

The Elisabeth Raab Neurofibromatosis Clinic, the first-in-Canada multidisciplinary clinic for adults with neurofibromatosis that will focus solely on this genetic disorder, is now open at Toronto General Hospital, thanks to a generous donation by an anonymous donor. An estimated 10,000 Canadians are living with neurofibromatosis, a disorder that disturbs cell growth in the nervous system. The disease can be difficult to diagnose, since all body systems can be involved, either directly or through neural or vascular influences.

Education and awareness are keys to unlock progress

Posted:Mon, 26 Oct 2015 15:30:00 EST

The Students Voice kicked off a campaign in late September to raise awareness about the three forms of a genetic disorder called Neurofibromatosis (NF) – NF1, NF2 and Schwannamatosis, and this intrigued me because it’s not every day one sees college students tackle issues as complex as this.

Dad’s Hilarious Homecoming Photo Goes Viral

Posted:Mon, 19 Oct 2015 13:30:00 EST

The reaction to the photo has been a welcome distraction in the Schock family, Sharee Schock says. Benjamin was recently diagnosed with Neurofibromatosis Type 2, a disorder characterized by the growth of noncancerous tumors. Last year, doctors discovered nine tumors on Benjamin’s brain and seven more on his spine, all of which are inoperable because of their location, but which cause Benjamin severe pain. “It started as a headache that wouldn’t go away for days, but the ultimate finding was a big shock to our family,” Sharee says. “We keep a very positive attitude and believe that things are going to be OK.”

Ulverston woman conquers Great Wall of China to raise money in honour of her mother

Posted:Mon, 19 Oct 2015 11:30:00 EST

Kerry Sharp took on the challenge after her mother passed away in 2013 having battled against Neurofibromatosis Type 2 – a condition where tumours grow on the nervous system. What makes Kerry’s decision to walk 60km of one of the Wonders of the World even more exceptional is that she too suffers from the hereditary condition, along with several other family members. In fact, she was supposed to make the trip last year but had to postpone after undergoing surgery to remove a brain tumour.

Fundraising effort started for young Baldwin City woman facing two-day brain surgery

Posted:Mon, 21 Sep 2015 07:30:00 EST

Allyson Sass’ mood heading into a two-day operation is summed up in a cartoon on her YouCaring crowd source fundraising site that reads: “‘It’s only brain surgery,’ said no one ever.” The 24-year-old Baldwin City woman will undergo a two-day surgery Sept. 16 and 17 to remove a tumor from her acoustic nerve. The tumor, which is associated with the genetic disease neurofibromatosis type II, has quadrupled in size in the past four years and is putting pressure on her brain stem, causing her to have difficulty swallowing, bouts of dizziness and headaches.

Inspirational Sue ‘braves the shave’ in Nuneaton

Posted:Wed, 26 Aug 2015 09:30:00 EST

A former Nuneaton Carnival Queen, who is battling brain tumours, has forgone her trademark locks to help those suffering from cancer. Despite suffering Neurofibromatosis type 2 meningioma, Sue Taylor from Whitestone, wanted to do her bit for the Macmillan Cancer Support campaign ‘Brave to Shave’. She is due to have what will be her third brain surgery next month and knowing that she would have to lose some hair as part of the process, the mum-of-two decided to have it shaved before and raise some money at the same time.

‘Tough times don’t last, tough people do’

Posted:Sat, 11 Jul 2015 08:00:00 EST

Holly is the only child of Julie and Mark Diggs of Charlotte. Everything about their new baby seemed perfect until Julie noticed something on her baby’s skin, “She started getting these little bumps on her arms. I took her to a dermatologist expecting them to come back and say it’s nothing. Instead I was told she has a very serious disease,” Julie said. It was Neurofibromatosis Type 2, also known as NF2. According to Johns Hopkins’ web site, NF2 causes benign tumors on the brain, spinal cord, and along nerve endings. It usually hits in teen years… but there are cases like Holly’s where it starts to present early in life.

McHenry County girls helping others with lemonade sales

Posted:Tue, 09 Jun 2015 07:30:00 EST

Four suburban girls have taken to setting up lemonade stands to raise money for seriously ill children whose parents are contending with medical expenses. Suberla has neurofibromatosis, a disorder of the nervous system that affects how nerve cells grow and form, according to the National Institute of Neurological Disorders and Stroke. Suberla’s Type 2 neurofibromatosis can cause hearing loss, balance problems and ringing in the ears. It has no cure.

Genetic testing poses parental dilemma

Posted:Wed, 03 Jun 2015 07:30:00 EST

Two-year-old Maible Cellucci loves using her newly learned sign language skills to ask for candy. The Quincy toddler is too young to understand the heartbreaking reason she is being taught to sign — a recent genetic test revealed she has a painful hereditary disease that could someday rob her of her hearing and could even cause dangerous pressure within her brain. Maible has neurofibromatosis, or NF, a hereditary condition that causes tumors to form on nerve tissue. Her form of the disease, NF type 2, typically targets the auditory nerves. Alexandra Cellucci, 31, had her daughter tested after she learned herself — when nine months’ pregnant with Maible in 2012 — that she has the disease. Late last year, she and her husband, Marc, decided to have Maible tested. It came back positive.

Man battling disease finds expression in music

Posted:Sun, 24 May 2015 11:30:00 EST

A Nashville man’s bravery and resilience in battling a life-changing disease shows up every day in his music. When Robert Sebastian was just 12 years old, he knew something was wrong. He was losing sight in one eye and simple balance was suddenly a major problem. Everything in his life was about to change. Sebastian’s condition is know as NF, and May is NF Awareness Month. This year’s theme is “I know a fighter.”

Facing up to genetic disorders

Posted:Sun, 24 May 2015 06:30:00 EST

You’re a parent and your ten-year-old daughter seems to be struggling to hear, almost as if she’s going deaf in one ear. A month later, she seems to be having problems with her balance too. You’ve brought her to doctors and they can’t seem to figure out what’s going on. According to University Malaya Medical Centre consultant paediatrician and clinical geneticist Prof Dr Thong Meow Keong, it could be time to consider a genetic disorder. I met him at a World Neurofibromatosis (NF) Day event organized last Sunday by Works of Gratitude, a non-profit foundation aimed at supporting people living with the three forms of the genetic disorder, NF1, NF2 and Schwannamatosis, and he had some words of advice.

Buildings, Bridges and Monuments Around the World Shine a Light on NF for Awareness Month

Posted:Wed, 06 May 2015 09:30:00 EST

The Children’s Tumor Foundation is pleased to announce that, in honor of May NF Awareness Month, buildings, bridges and monuments across the globe will light up blue and green, the official colors of neurofibromatosis (NF). Neurofibromatosis is a genetic disorder that can cause tumors to grow on nerves throughout the body. Shine a Light on NF is one part of the Children’s Tumor Foundation’s month-long awareness campaign that includes online and offline events designed to educate the community about this under-recognized genetic disorder.

Hop on board Works of Gratitude

Posted:Mon, 27 Apr 2015 10:30:00 EST

May’s NF Awareness Month worldwide – and it’s time for some light to be thrown on Works of Gratitude, a foundation for NFers that’s being set up by the NFer I met a decade ago, Yvonne Foong. What does Works of Gratitude aim to do? Well, in Foong’s words, it aims to address the main challenges faced by Malaysian NFers – those living with NF1, NF2 and Schwannamatosis.

4 Game-Changing Technologies For The Deaf And Hard Of Hearing

Posted:Mon, 27 Apr 2015 08:30:00 EST

Limited access to services and exclusion from communication can have a significant impact on everyday life, causing feelings of loneliness, isolation and frustration, particularly among older people with hearing loss. Recent advances in technology have the potential to improve the quality of life for those who are deaf or hard of hearing. Here’s a look at four products in this space that caught our attention.

The Brain Tumor Is Benign, but Threats Remain

Posted:Mon, 27 Apr 2015 07:30:00 EST

In the frightening world of brain tumors, “benign” is a good word to hear. But even a nonmalignant tumor can be dangerous — especially if, as in my case, it goes undetected, becoming a stealth invader. The symptoms of Byrdie Lifson-Pompan, a patient advocate in Los Angeles, started 11 years ago, when she was 38 and had an eye twitch. She consulted a prominent neurologist, who chalked it up to stress, and prescribed Xanax, a medication for anxiety. When her symptoms worsened, the neurologist ordered scans and concluded she had a severe form of Bell’s palsy, a disorder that affects the facial muscles.

Thanks to USC surgeons, Little Leaguer is back in the game

Posted:Sat, 14 Mar 2015 07:30:00 EST

Alex’s surgery just a couple of months before had involved the removal of a tumor called an acoustic neuroma from his right auditory nerve. Common early symptoms include hearing loss, tinnitus (ringing in the ears) and problems with balance, said Rick Friedman, director of the USC Acoustic Neuroma Center, a professor of otolaryngology and neurosurgery at the Keck School of Medicine of USC, and division director of otology, neurotology and skull base surgery.

WT Glow in the Dark 5K to benefit Chase Holt

Posted:Fri, 06 Mar 2015 07:30:00 EST

The Wayne Trace National Honor Society (NHS) is holding its annual Glow-in-the-Dark 5K on Saturday, April 11 at the Payne ball park across from the Payne Elementary School. Any money raised this year will go toward the medical treatment for Chase Holt, a Payne elementary student. Chase was diagnosed with a rare genetic disorder called Neurofibromatosis Type 2 (NF2).

After going deaf, Missouri woman sought out local agency for help in overcoming obstacles

Posted:Wed, 04 Mar 2015 06:30:00 EST

Nearly two years ago, Pamela Rickey decided she wanted more independence and to be around a larger deaf community. She decided to leave Joplin, Missouri, and move to Tulsa to receive help from Total Source for Hearing-loss and Access. Pamela Rickey was diagnosed with neurofibromatosis type 2, a disorder characterized by the growth of benign tumors throughout the nervous system.

Man with ventilator speaks for first time in 15 years

Posted:Sun, 22 Feb 2015 10:00:00 EST

In 1999, doctors cut open Moir’s neck to insert a breathing tube, and from then on the southwestern Ontario farmer could communicate only by moving his eyes to pick out letters from a board his wife held up. But last year, with the help of an American startup, Moir, of Lucan Biddulph, Ont., would again speak, albeit through a machine, and for the first time in more than a decade, the paralyzed man could communicate by himself.

Undie runners sprint through Downtown Detroit in frigid conditions to fight neurofibromatosis

Posted:Sun, 22 Feb 2015 06:30:00 EST

With wind chill temperatures at 2 degrees below zero and dropping, about 1,200 people did the only logical thing to do on a frigid Valentine’s Day afternoon. The crazed crowd of flesh-baring maniacs endured the painful cold for a clear purpose: Fighting neurofibromatosis, a genetic disorder of the nervous system that affects how nerve cells form and grow, causing tumors to form along nerves throughout the body.

New Italian Website on NF2

Posted:Fri, 13 Feb 2015 06:30:00 EST

For those who understand Italian, a website on Neurofibromatosis type 2 has been created in the Italian language. Created by Dr Stephania Mostacciol who has NF2.

People with disabilities want the Internet to be more accessible

Posted:Sat, 31 Jan 2015 08:30:00 EST

The Supreme Court hasn’t yet decided how the 1990 rights law should apply to websites, and lower court judges disagree about the answer. In the broadest interpretation of the ADA to date, U.S. District Judge Michael Ponsor of Massachusetts allowed the National Association of the Deaf to proceed with a 2012 lawsuit accusing Netflix of violating the law by failing to close-caption its video streams.

Live each day, says terminally ill woman

Posted:Wed, 21 Jan 2015 08:30:00 EST

Neurofibromatosis Type 2 is not a form of cancer, but is an incurable, genetic nervous system disorder. Today, 26-year-old Melinda Pinkerton has about eight major tumors on her brain, three major tumors on her spinal cord and 40 or 50 smaller tumors on the spine. Despite the crippling disease, she savors life and is disturbed when others facing medical adversities choose to end their own lives, even under the guise of legal physician-assisted suicide.

Patients Seek ‘Right to Try’ New Drugs

Posted:Mon, 12 Jan 2015 08:30:00 EST

Since May, a string of states have passed laws that give critically ill patients the right to try medications that have not been approved by the Food and Drug Administration.

Ohio boy with rare disorder fights for needed treatment

Posted:Tue, 06 Jan 2015 06:30:00 EST

Chase Holt is like most seven-year-olds. He likes to play sports and video games and loves wrestling. But, he’s already had to endure more than many adults. In April 2013, Chase was diagnosed with Neurofibromatosis Type 2 (NF2). It’s a rare genetic disorder that causes benign tumors to grow in different places in the body.

NF2 Research News:

Implant could bring tears of joy to “dry eye” sufferers

Posted:Wed, 16 Dec 2015 11:30:00 EST

Caused by a lack of proper tear fluid, dry eye syndrome is among the world’s most common eye diseases. Although it rarely results in complete vision loss, it is painful, and can lead to ulcers or scars on the cornea. There may be new hope for sufferers of the condition, however. Scientists from Stanford University have created an implant that causes the eye to produce more tears. Developed by a team led by Prof. Daniel Palanker (and inspired by an idea from postdoctoral fellow Michael Ackermann), the device is 16 mm long, 4 mm wide and 2 mm thick.

(Abstract) Anti-VEGF treatment improves neurological function and augments radiation response in NF2 schwannoma model

Posted:Mon, 09 Nov 2015 14:30:00 EST

Research Highlight: Bevacizumab improved hearing in neurofibromatosis type 2 patients; however, its effect is not durable and its mechanism of action on nerve function is unknown. Our findings support clinical evaluation of combined anti-VEGF and radiation therapy in patients with VS.

(pdf) Far Lateral Surgical Approach for Auditory Brainstem Implant in Neurofibromatosis Type 2

Posted:Mon, 09 Nov 2015 13:30:00 EST

The surgery of the posterior fossa is quite complex, the development of neuromodulation allowed many possibilities of treatments for neurological diseases. Auditory brain implant can restore auditory function for people with diseases in cochlear nerves and are not candidates for cochlear implantation such as patients with Neurofibromatosis type 2. ]

NCI CTEP-Approved Trials For the Month of September

Posted:Mon, 28 Sep 2015 13:30:00 EST

The National Cancer Institute Cancer Therapy Evaluation Program approved the following clinical research studies last month. For further information, contact the principal investigator listed. A071401: Phase II Trial of SMO/ AKT/ NF2 Inhibitors in Progressive Meningiomas with SMO/ AKT/ NF2 Mutations. Alliance for Clinical Trials in Oncology; Brastianos, Priscilla Kaliopi. (617) 643-1938

EORTC trial opens for patients with recurrent grade II or III meningioma

Posted:Mon, 28 Sep 2015 11:30:00 EST

The aim of the recently opened comparative randomized phase II EORTC 1320 trial is to analyze prospectively collected data on activity, safety and quality of life of trabectedin therapy in patients with recurrent high-grade meningioma. Dr. Matthias Preusser of the Medical University Vienna – General Hospital AKH and Coordinator of this study adds, “In fact, we saw very promising activity of trabectedin against meningioma cell lines in laboratory investigations and favorable disease stabilization in a patient with heavily pretreated malignant meningioma, and these findings provide us with a rationale for further studying the potential efficacy of trabectedin in grade II or III meningioma.”

U of M: New Technology Could Help Regrow Complex Nerves

Posted:Mon, 21 Sep 2015 11:30:00 EST

Scientists from the University of Minnesota were part of a national team whose groundbreaking research could help hundreds of thousands of people who have suffered nerve injuries or disease. According to Mayo Clinic researchers, nerve regeneration is a complex process, so nerve damage is often permanent. This new method could be the answer to helping people get these sensory and motor skills back.

(Abstract) Strategy for the surgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2

Posted:Mon, 21 Sep 2015 10:30:00 EST

Research Highlight: In this paper we reviewed our experience with patients with NF2 for the results of surgical treatment with particular reference to hearing and facial nerve preservation. Conclusions: Early surgical intervention for vestibular schwannoma in NF2 patient is a viable management strategy to maintain hearing function and preserve facial nerve function.

(Abstract) Bevacizumab treatment for symptomatic spinal ependymomas in neurofibromatosis type 2

Posted:Mon, 21 Sep 2015 09:30:00 EST

Research Highlight: The aim of this study was to review the clinical effects of bevacizumab treatment for symptomatic, NF2-associated ependymomas. Conclusions: Treatment using bevacizumab improved symptoms related to NF2-associated ependymomas, often without concurrent radiographic response. This treatment effect may be related to VEGF-R1 expression in NF2-associated ependymoma.

(Abstract) Effect of bevacizumab on intracranial meningiomas in patients with neurofibromatosis type 2 – a retrospective case series

Posted:Mon, 21 Sep 2015 08:30:00 EST

Research Highlight: The purpose of the study was to report the effect of bevacizumab on meningiomas in NF2 patients. Conclusions: Bevacizumab may slow or reverse the growth of some NF-related meningiomas. However, we have previously reported a fatal case of intracerebral hemorrhage following bevacizumab in NF2 patients, wherefore this effect needs to be balanced carefully against the risk of side effects.

Laser detects brain tumour cells during surgery

Posted:Tue, 01 Sep 2015 10:30:00 EST

Surgeons in London have used lasers to diagnose abnormal tissue during an operation to remove a brain tumour for the first time in Europe. The non-invasive technique measures light reflected off tissue to determine whether it is cancerous or healthy.

(Abstract) Factors influencing the growth rate of vestibular schwannoma in patients with neurofibromatosis type 2

Posted:Wed, 26 Aug 2015 10:30:00 EST

Research Highlight: This study aimed to assess the clinical factors influencing the growth rate of NF2-related VSs. The potential clinical factors influencing the VS growth rate are the age at symptom onset, initial tumour volume and presence of spinal tumours. Surgical resection of VSs might accelerate the growth rate of contralateral tumours. The effects of these factors require further experimental confirmation.

U.S. scientists successfully turn human cancer cells back to normal in process that could ‘switch off’ disease

Posted:Wed, 26 Aug 2015 08:30:00 EST

Cancer cells have been programmed back to normal by scientists in a breakthrough which could lead to new treatments and even reverse tumour growth. For the first time, aggressive breast, lung and bladder cancer cells have been turned back into harmless benign cells by restoring the function which prevents them from multiplying excessively and forming dangerous growths. Scientists at the Mayo Clinic in Florida in the U.S. said it was like applying the brakes to a speeding car.

Surprising Brain Surgery Method Leaves No Scars

Posted:Wed, 26 Aug 2015 07:30:00 EST

The thought of having brain surgery can be frightening. Many people think of scars and a shaved head that such a procedure leaves behind. But for people with certain types of brain tumors, there’s now a unique surgical option that doesn’t leave a mark. Instead of creating holes in the skull with a drill to access the brain, the new procedure uses two holes that already lead inside your head: your nostrils. Two surgeons working side-by-side use tiny, elongated instruments deep inside the nose and a small camera, which they insert through a small opening they create at the base of a patient’s skull.

(Abstract) Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

Posted:Wed, 19 Aug 2015 10:30:00 EST

Research Highlight: The study included 241 deaths during 10 995 patient-years of follow-up since diagnosis. Early age at diagnosis and the presence of intracranial meningiomas were associated with increased mortality, and having a mosaic, rather than non-mosaic, NF2 mutation was associated with reduced mortality. Patients with splice-site or missense mutations had lower mortality than patients with truncating mutations (OR 0.459, 95% CI 0.213 to 0.990, and OR 0.196, 95% CI 0.213 to 0.990, respectively). Patients with splice-site mutations in exons 6–15 had lower mortality than patients with splice-site mutations in exons 1–5 (OR 0.333, 95% CI 0.129 to 0.858). The mortality of patients with NF2 diagnosed in more recent decades was lower than that of patients diagnosed earlier.

(Abstract) Association of tumor location, extent of resection, and ncurofibromatosis status with clinical outcomes for 221 spinal nerve sheath tumors

Posted:Wed, 19 Aug 2015 09:30:00 EST

Research Highlight: Resection is an effective treatment for spinal nerve sheath tumors. Neurofibromas were found more commonly in the cervical spine than in other regions of the spine and were associated with higher rates of recurrence and lower rates of GTR (gross-total resection) than other tumor types, particularly in patients with NF Types 1 or 2.

(Video) Hearing Preservation Rehabilitation in Neurofibromatosis Type 2

Posted:Fri, 31 Jul 2015 09:30:00 EST

The NF Network has uploaded a video from the webinar presented on July 29, 2105. Hosted by Dr Brackmann of House Clinic in LA, he investigates Hearing Preservation in NF2. Video is provided with captions.

(Abstract) A high-throughput kinome screen reveals serum/glucocorticoid-regulated kinase 1 as a therapeutic target for NF2-deficient meningiomas

Posted:Fri, 31 Jul 2015 08:30:00 EST

Research Highlight: Here we performed a high-throughput kinome screen to identify kinases responsible for mTORC1 pathway activation in NF2-deficient meningioma cells.

(Abstract) Natural history of vestibular schwannomas and hearing loss in NF2 patients

Posted:Fri, 31 Jul 2015 07:30:00 EST

Research Highlight: An exhaustive review of the literature was performed using the PubMed database concerning the natural history of tumor growth and hearing loss in NF2 patients with vestibular schwannomas.

Schwann cells ‘dine in’ to clear myelin from injured nerves

Posted:Sat, 11 Jul 2015 11:30:00 EST

Researchers reveal how cells in the peripheral nervous system (PNS) degrade myelin after nerve injury, a process that fails to occur in the central nervous system (CNS). The study appears in The Journal of Cell Biology. Unlike the CNS, the PNS is capable of significant repair. One reason for this is that Schwann cells, which supply the protective sheath of myelin that covers axons in the PNS, are able to help clear away damaged myelin and guide regeneration after nerve injury. In contrast, the myelin-forming cells in the brain and spinal cord, oligodendrocytes, lack these properties, which helps explains why the CNS has such a limited ability to fix damaged nerves.

Researchers invent device that makes chemotherapy more personalized, efficient

Posted:Sat, 11 Jul 2015 11:00:00 EST

Two University of Florida researchers have invented a device that makes chemotherapy treatments more personalized, efficient and affordable. The miniaturized platform, known as a microarray, uses patients’ cancer cells to test various doses and combinations of chemotherapy drugs. The device’s breakthrough capability—its ability to work with a smaller number of cancer stem cells—is especially crucial because such cells are particularly rare. Cancer stem cells comprise about 1 percent of a typical tumor, and other drug-testing methods require larger amounts of cells.

(Abstract) Comparison of outcomes of peripheral nerve schwannoma excision in neurofibromatosis type 2 patients and non-neurofibromatosis type 2 patients: A case control study

Posted:Sat, 11 Jul 2015 10:00:00 EST

Research Highlight: Co-existing peripheral neuropathy can complicate the clinical presentation and recovery in NF2. We designed a study to compare outcomes of peripheral nerve schwannoma excision in NF2 patients with excision of isolated, sporadic schwannomas in non-NF2 patients.

(Abstract) Evaluation of Reported Malignant Transformation of Vestibular Schwannoma: De Novo and After Stereotactic Radiosurgery or Surgery

Posted:Sat, 11 Jul 2015 09:00:00 EST

Research Highlight: To critically analyze each reported case of malignant transformation of vestibular schwannoma (VS) after either stereotactic radiosurgery (SRS) or microsurgery (MS).

(Abstract) Magnetic Resonance Imaging With Cochlear Implant Magnet in Place: Safety and Imaging Quality

Posted:Sat, 11 Jul 2015 07:00:00 EST

Research Highlight: To evaluate the safety and image quality of 1.5-T MRI in patients with cochlear implants and retained internal magnets.

Braking mechanism identified for cell growth pathway linked to several cancers

Posted:Fri, 26 Jun 2015 10:40:00 EST

Researchers at University of California, San Diego School of Medicine have discovered a self-regulating loop in the Hippo pathway, a signaling channel garnering increased attention from cancer researchers due to its role in controlling organ size, cell proliferation and cell death. Specifically, the researchers found that, in addition to promoting genes for cell growth, YAP and TAZ also induce expression of inhibitor genes, such as NF2, that dampen the cell growth signal. “This is important because without this braking mechanism you would get uncontrolled cell growth, which can lead to cancer,” Guan said.

Largest-Ever Precision Medicine Oncology Trial Ready for Launch

Posted:Fri, 26 Jun 2015 09:30:00 EST

A landmark clinical trial that will channel patients into treatment arms based on molecular abnormalities rather than cancer types aims to test the efficacy of more than 20 drugs simultaneously in an ambitious National Cancer Institute (NCI) plan to further propel oncology drug discovery into the precision medicine era. VS-6063—NF2 loss. VS-6063, which also is called defactinib, is a small-molecule FAK inhibitor in phase I/II testing in mesothelioma, NSCLC, and ovarian cancer.

(Abstract) Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2

Posted:Fri, 26 Jun 2015 08:30:00 EST

Research Highlight: This study, examining the origins of vestibular schwannomas in NF2, refutes their origin as being from a single site on the transition zone of the superior division of the vestibular nerve. We hypothesise a relationship between the number of tumour foci, tumour biology and aggressiveness of disease. The development of targeted drug therapies in addition to bevacizumab are therefore essential to improve prognosis and quality of life in patients with NF2 given the shortcomings of surgery and radiation treatments when dealing with the multifocality of the disease.

(Abstract) 3D volumetric measurement of neurofibromatosis type 2-associated meningiomas. Association between tumor location and growth rate

Posted:Fri, 26 Jun 2015 07:30:00 EST

Research Highlight: Treatment of meningiomas in neurofibromatosis type II (NF2) patients is challenging because the natural history of these tumors is unclear. More insight in tumor growth and factors predicting growth may contribute to a better clinical management. In this study, growth characteristics of supratentorial NF-related meningiomas were examined and the association between tumor growth rate and location was evaluated.

Better clinical management improves quality of life for neurofibromatosis patients

Posted:Fri, 26 Jun 2015 06:30:00 EST

A genetic disorder called neurofibromatosis causes benign tumors to grow on the brain, spinal cord, and other parts of the nervous system. There are no effective drugs to prevent or reverse NF. But increasing scientific knowledge has allowed for better clinical management and fewer complications, resulting in a higher quality of life.

Is the radiation exposure from dental X-rays necessary?

Posted:Fri, 26 Jun 2015 11:30:00 EST

What should you do the next time the dentist tells you he or she is going to take full dental X-rays? A new study shows that just as porcupines make love very, very carefully, you should also take care to limit the amount of radiation exposure during your lifetime, particularly the amount children receive. Dr. Elizabeth Claus of Yale University reports in the American Cancer Society Journal Cancer, that there’s a link between dental x-rays and the risk of developing a brain tumour called a meningioma.

(Abstract) Management of multiple tumors in neurofibromatosis type 2 patients

Posted:Mon, 15 Jun 2015 11:30:00 EST

Research Highlight: Neurofibromatosis type 2 is characterized by the presence of bilateral vestibular schwannomas. However, other nervous system tumors may also occur. Therefore, the management of NF2 patients is complex and requires a multidisciplinary discussion in a specialized center. All recent articles concerning tumors other than vestibular schwannoma in NF2 disease were reviewed, using PubMed databases.

(Abstract) Merlin status regulates p75NTR expression and apoptotic signaling in Schwann cells following nerve injury

Posted:Mon, 15 Jun 2015 10:30:00 EST

Research Highlight: After nerve injury, Schwann cells (SCs) dedifferentiate, proliferate, and support axon regrowth. If axons fail to regenerate, denervated SCs eventually undergo apoptosis due, in part, to increased expression of the low-affinity neurotrophin receptor, p75NTR. Merlin is the protein product of the NF2 tumor suppressor gene implicated in SC tumorigenesis. Here we explore the contribution of merlin to SC responses to nerve injury.

(Abstract) Nf2/Merlin controls spinal cord neural progenitor function in a Rac1/ErbB2-dependent manner

Posted:Mon, 15 Jun 2015 09:30:00 EST

Research Highlight: Individuals with the neurofibromatosis type 2 (NF2) cancer predisposition syndrome develop spinal cord glial tumors (ependymomas) that likely originate from neural progenitor cells. We identify potential therapeutic targets for these tumors, we leveraged primary mouse Nf2-deficient spinal cord neural progenitor cells.

Scientists find way to disrupt brain tumor stem cells

Posted:Mon, 15 Jun 2015 08:30:00 EST

Some brain tumors are notoriously difficult to treat. Whether surgically removed, zapped by radiation or infiltrated by chemotherapy drugs, they find a way to return. The ability of many brain tumors to regenerate can be traced to cancer stem cells that evade treatment and spur the growth of new tumor cells. But some brain tumor stem cells may have an Achilles’ heel, scientists have found. The cancer stem cells’ remarkable abilities have to be maintained, and researchers at Washington University School of Medicine in St. Louis have identified a key player in that maintenance process. When the process is disrupted, they found, so is the spread of cancer.

Left in the Brain: Potentially Toxic Residue from MRI Drugs

Posted:Mon, 15 Jun 2015 07:30:00 EST

This month, two prominent experts in the radiology community joined in the concern, calling for more research into the possible health risks after three recent studies found that gadolinium, a potentially toxic metal, wound up in the brain tissue of MRI patients who used two different contrast agents.

(Abstract) Tumor Biology of Vestibular Schwannoma: A Review of Experimental Data on the Determinants of Tumor Genesis and Growth Characteristics

Posted:Tue, 09 Jun 2015 10:30:00 EST

Research Highlight: Vestibular schwannomas are benign tumors originating from the eighth cranial nerve and arise due to inactivation of the NF2 gene and its product merlin. Unraveling the biology of these tumors helps to clarify their growth pattern and is essential in identifying therapeutic targets.

(Abstract) Cochlear Implant (CI) + Auditory Brainstem Implant (ABI) For Neurofibromatosis Type 2(NF2) Patients

Posted:Tue, 09 Jun 2015 09:30:00 EST

Research Highlight: We propose a theory in this paper which indicates that a device which is a combination of CI and ABI might be more useful for patients who suffer from NF2.

(PDF) Pregnancy with neurofibromatosis type II: the enigma continues

Posted:Tue, 09 Jun 2015 08:30:00 EST

Case Report: Neurofibromatosis type II in pregnancy has variable presentations. The recurrence rate and bilaterality of CP angle tumour is very high. We present a case of bilateral schwanomma diagnosed in mid-pregnancy, for which patient was operated in second trimester and postpartum radiotherapy will now be given.

(Abstract) Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing

Posted:Tue, 09 Jun 2015 06:30:00 EST

Research Highlight: In order to establish a highly sensitive method that has the power to detect low levels of NF2 mutant alleles from blood samples of mosaic NF2 patients, we performed ultra deep sequencing and calculated the percentage of mutant and wildtype NF2 alleles.

Scientists turn blood into nerve cells in pursuit of better pain relief

Posted:Wed, 03 Jun 2015 11:30:00 EST

As it stands, there’s not a whole lot we know about pain. Where a tissue or blood sample can be drawn and studied, our nervous system comprising different kinds of cells running signals through complex piping around the body presents a difficult task for scientific research. But a new study details a technique that turns blood cells into different nerve cells, promising to improve our understanding of why things itch or burn.

(Abstract) Bevacizumab decreases vestibular schwannomas growth rate in children and teenagers with neurofibromatosis type 2

Posted:Wed, 03 Jun 2015 10:30:00 EST

Research Highlight: Vestibular schwannoma (VS) growth in neurofibromatosis type 2 (NF2) can be responsible for brainstem compression and hearing loss. Surgical removal remains the standard therapy despite potential morbidity. Previous studies suggested that the inhibition of the VEGF-pathway with bevacizumab could result in hearing improvement, reduction of the tumor volume or both in adults. We retrospectively describe the French experience of bevacizumab treatment delivered for progressive VS in pediatric NF2 patients.

(Abstract) The Solid Component of Radiographically Non-Growing, Post-Radiated Vestibular Schwannoma Retains Proliferative Capacity: Implications for Patient Counseling

Posted:Wed, 03 Jun 2015 09:30:00 EST

Research Highlight: Nearly all radiated vestibular schwannomas (VS) have solid tissue remaining at the radiation bed. The viability and proliferation capacity of this tissue has never been objectively assessed. The goals of our study were to (1) determine whether this tissue retains the morphological and immunohistochemical features of VS and (2) evaluate whether the tissue is capable of proliferation in cell culture.

(Abstract) Combined treatment by octreotide and everolimus: Octreotide enhances inhibitory effect of everolimus in aggressive meningiomas

Posted:Wed, 03 Jun 2015 08:30:00 EST

Research Highlight: Treatment for recurrent and aggressive meningiomas remains an unmet medical need in neuro-oncology, and chemotherapy exhibits limited clinical activity, if any. Merlin expression, encoded by the NF2 gene, is lost in a majority of meningiomas, and merlin is a negative regulator of mTORC1. To investigate new therapeutic strategies, we evaluated the activity of everolimus (mTOR inhibitor), BKM-120 and BEZ-235 (new Pi3K/Akt/mTOR inhibitors), octreotide and a combined treatment (octreotide plus everolimus), on cell proliferation, signaling pathways, and cell cycle proteins, respectively.

(Abstract) Biology and clinical management challenges in meningioma

Posted:Wed, 03 Jun 2015 06:30:00 EST

Research Highlight: Meningiomas are the most frequently occurring intracranial tumors. They are characterized by a broad spectrum of histopathologic appearance. Molecular alterations driving meningioma development, which affect the NF2 gene, are found in roughly 50% of patients. Rare genetic events in benign meningiomas are mutations in TRAF7, KLF4, AKT1, and SMO; all of these mutations are exclusive of NF2 alterations.

Man battling disease finds expression in music

Posted:Sun, 24 May 2015 11:30:00 EST

A Nashville man’s bravery and resilience in battling a life-changing disease shows up every day in his music. When Robert Sebastian was just 12 years old, he knew something was wrong. He was losing sight in one eye and simple balance was suddenly a major problem. Everything in his life was about to change. Sebastian’s condition is know as NF, and May is NF Awareness Month. This year’s theme is “I know a fighter.”

Experts map surgical approaches for auditory brainstem implantation

Posted:Sun, 24 May 2015 10:30:00 EST

A technique called auditory brainstem implantation can restore hearing for patients who can’t benefit from cochlear implants. A team of US and Japanese experts has mapped out the surgical anatomy and approaches for auditory brainstem implantation in the June issue of Operative Neurosurgery. Dr. Albert L. Rhoton, Jr., and colleagues of University of Florida, Gainesville, and Fukuoka University, Japan, performed a series of meticulous dissections to demonstrate and illustrate surgical approaches to auditory brainstem implant placement. Their article shares exquisitely detailed anatomic color photographs, along with step-by-step descriptions of two alternative routes for neurosurgeons performing these demanding implant procedures.

Northwestern Medicine Surgeons Develop New Approach to Removing Nerve Tumors

Posted:Sun, 24 May 2015 09:30:00 EST

An MRI and biopsy confirmed the lump in Rendino’s neck was a schwannoma, a rare tumor that forms in the tissue that surrounds nerves. While most schwannomas are benign and slow growing, Rendino’s tumor was progressing and causing him pain making surgical removal necessary. In nerve surgery, the surgeon must navigate around crucial nerve fibers to access and remove the tumor. These surgeries are particularly challenging because traditional MRIs often do not give the surgeon a complete picture of the patient’s unique nerve fibers. To better define this picture, Kliot, along with Thomas A. Gallagher, MD, a Northwestern Medicine functional neuroradiologist, have successfully applied diffusion tensor imaging (DTI), a unique type of MRI sequence, to map the course of vital nerve fibers prior to surgery to remove the nerve tumor.

Ocumetics Bionic Lens could give you vision 3x better than 20/20

Posted:Sun, 24 May 2015 08:30:00 EST

Imagine being able to see three times better than 20/20 vision without wearing glasses or contacts — even at age 100 or more — with the help of bionic lenses implanted in your eyes. Dr. Garth Webb, an optometrist in British Columbia who invented the Ocumetics Bionic Lens, says patients would have perfect vision and that driving glasses, progressive lenses and contact lenses would become a dim memory as the eye-care industry is transformed.

New chemical technology boosts potency of targeted cancer therapy

Posted:Sun, 24 May 2015 07:30:00 EST

In work that heralds a new, more potent form of targeted therapy for cancer, Dana-Farber Cancer Institute scientists have devised a chemical technology that doesn’t just disable malevolent proteins in tumor cells, as current agents do, but destroys them. As described in a study posted online May 21 by Science magazine, the strategy uses tumor cells’ own protein-chopping machinery to break down and dispose of proteins that drive cancer growth. When tested in laboratory samples of leukemia cells and in animals with human-like leukemia, the approach caused cancer cells to die much more quickly than with conventional targeted therapies.

An Interview with Dr. Gareth Evans

Posted:Sat, 16 May 2015 08:30:00 EST

Gareth Evans works as Professor of Medical Genetics at Manchester University in the UK. He is an international leader in the field of Neurofibromatosis genetics research and he specialized in NF2. He is also a member of The Neuro Foundation and he was one of the main speakers at the 16th European Congress of Neurofibromatosis, held last September in Barcelona. held an interview with Dr Evans to discuss his works with NF2.

(Case Report) Complete pain relief after bevacizumab in a patient with neurofibromatosis type 2

Posted:Sat, 16 May 2015 07:30:00 EST

A 27-year-old woman with known neurofibromatosis type 2 was referred to our outpatient clinics because of symptomatic progression. We now report an impressive effect of bevacizumab treatment on symptomatic peripheral schwannomas with a fast and complete pain relief in a patient with neurofibromatosis type 2.

Functional Characterization of a Novel NF2/Merlin Protein Complex in Growth Control

Posted:Sat, 16 May 2015 06:30:00 EST

Drosophila, commonly known as the fruit fly, has many evolutionarily conserved genes, including Merlin, that are strikingly similar to those in humans. Pan and his team revealed multiple layers of evidence linking Merlin to the Hippo genetic signaling pathway, an important signaling pathway in cancer development. Dr. Pan currently has an FY13 NFRP Investigator-Initiated Research Award to continue these studies. Research supported by this award will use the molecular data identified in his Drosophila studies to develop targeted therapies against NF2. These are the first studies to test drugs that specifically target the Merlin gene pathway and may lead to much-needed therapeutics for the treatment of NF2.

(Abstract) In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype

Posted:Wed, 06 May 2015 08:30:00 EST

Research Highlight: Computer-based (in silico) protein modeling to examine genotype-phenotype relationships for a given mutation has been applied to many genes but never to NF2. Missense mutations in the merlin protein occur in approximately 9% of patients with neurofibromatosis type 2 (NF2). Within this subset of patients, no genotype-phenotype correlations have been established. The aim of this study was to determine if genotype correlates with phenotype in the cohort of NF2 patients with missense mutations as a first step to defining a method to predict clinical phenotype from genotype for these patients.

DNA editing takes a serious step forward — for better or worse

Posted:Wed, 06 May 2015 08:00:00 EST

When a Chinese team revealed last month that it had used a new laboratory technique to alter a gene in human embryos, it set off an urgent debate over the ethics — and wisdom — of tinkering with the most basic building blocks of life. The technology makes genetic manipulations that were theoretical in the past seem easy to achieve — and soon. If scientists figure out how to do it in a way that’s safe for patients, gene editing could produce tremendously beneficial medical treatments.

(Online Report) Synodos For NF2

Posted:Wed, 06 May 2015 07:30:00 EST

On October 30, 2014 The Children’s Tumor Foundation held their first progress report meeting on the groundbreaking Synodos for NF2 Initiative. This meeting was convened to assess the current state of the initiative after its first six months in operation. Synodos for NF2 was designed with five specific aims to advance NF2 research as quickly as possible. The five aims are: 1) Screen drug candidates against merlin deficient schwannoma and meningioma cells; 2) Collect and integrate molecular system data to define potential drug targets and improve the preclinical models; 3) Screen drug candidates in a variety of mouse models with vestibular schwannomas or meningioma; 4) Identify at least one drug candidate that has the potential to be brought to the NF2 patients for a clinical trial; and 5) to share data and manage all steps of the project smoothly and effectively. What follows is a brief look at where we stand after six months of this three year initiative.

(Abstract) Expression alterations define unique molecular characteristics of spinal ependymomas

Posted:Wed, 06 May 2015 06:30:00 EST

Research Highlight: Ependymomas are glial tumors that originate in either intracranial or spinal regions. Although tumors from different regions are histologically similar, they are biologically distinct. We therefore sought to identify molecular characteristics of spinal ependymomas (SEPN) in order to better understand the disease biology of these tumors. Evaluation of NF2 co-expressed genes further confirms the enrichment of chromosome 22 regions.

Major pathway identified in nerve cell death offers hope for therapies

Posted:Mon, 27 Apr 2015 09:30:00 EST

New research highlights how nerves – whether harmed by disease or traumatic injury – start to die, a discovery that unveils novel targets for developing drugs to slow or halt peripheral neuropathies and devastating neurodegenerative disorders such as Alzheimer’s disease, Parkinson’s disease and amyotrophic lateral sclerosis (ALS). Peripheral neuropathy damages nerves in the body’s extremities and can cause unrelenting pain, stinging, burning, itching and sensitivity to touch. The condition is commonly associated with diabetes or develops as a side effect of chemotherapy.

Scientists develop technique that could stop a genetic disease being passed on to future generations

Posted:Mon, 27 Apr 2015 06:30:00 EST

Scientists have developed a technique that could stop a genetic disease being passed on to future generations; it would offer an alternative to the “three-parent” IVF baby approach that has recently been made legal in Britain. The researchers have shown that it is possible to edit the genome of the mitochondria – the microscopic “power packs” of the cells – to eliminate the DNA mutations responsible for the inherited mitochondrial diseases.

Role of Merlin/NF2 inactivation in tumor biology

Posted:Mon, 20 Apr 2015 13:30:00 EST

This review discusses the influence of merlin loss of function in NF2-related tumors and common human cancers. We also discuss the NF2 gene status and merlin signaling pathways affected in the different tumor types and the molecular mechanisms that lead to tumorigenesis, progression and pharmacological resistance.

WHO calls on scientists to stop withholding results of clinical trials

Posted:Mon, 20 Apr 2015 11:30:00 EST

The World Health Organization (WHO) has issued a statement demanding more transparency in scientists’ reporting of clinical trials. The statement updates and expands the WHO’s position, adding specific timelines for scientists to register the outcome and methods of clinical trials. In an accompanying commentary, science writer and open science advocate Ben Goldacre said that the WHO’s decision was “powerful and welcome” and that it “represents important progress on a long-standing and global structural problem.”

Stimulating both major branches of the immune system halts tumor growth more effectively

Posted:Mon, 20 Apr 2015 10:30:00 EST

Orchestrating a successful immune attack against tumors has proven difficult so far, but a new study from MIT suggests that such therapies could be improved by simultaneously activating both arms of the immune system. Until now, most researchers have focused on one of two strategies: attacking tumors with antibodies, which activate the innate immune system, or stimulating T cells, which form the backbone of the adaptive immune system.

(Abstract) Reduced dosage of bevacizumab in treatment of vestibular schwannomas in patients with neurofibromatosis type 2

Posted:Sun, 12 Apr 2015 10:30:00 EST

Research Highlight: Bevacizumab is used for treatment of progressive vestibular schwannomas, with the intent to reduce tumor size or preserve/improve hearing. Prolonged treatment can cause side effects such as hypertension and proteinuria, which can be cause for discontinuation of therapy. We report on 3 patients who were treated with bevacizumab for 66-76 months, with dose reductions that minimized side effects while sustaining the clinical effect of the antiangiogenic therapy.

New Partnership to Create First Center Dedicated to the Development of Biomarkers for Neurofibromatosis

Posted:Sun, 12 Apr 2015 09:30:00 EST

The field of pediatric tumors suffers from a lack of biomarkers, and nowhere is this more evident than in children’s tumors associated with the genetic disorder neurofibromatosis, also known as NF. The absence of measurable biological indicators makes this multifaceted disease even more difficult to diagnose and treat, resulting in fear and frustration not only for patients, but also for the doctors and clinicians working to better their lives. The Children’s Tumor Foundation (CTF) and the National Biomarker Development Alliance (NBDA) have partnered to advance biomarker development in NF – with potential for applications across other rare disease areas.

Wearable device slows deadly brain tumors, clinical trial finds

Posted:Sun, 12 Apr 2015 08:30:00 EST

A wearable device that emits low-level electrical fields can slow the progression of glioblastoma, the deadliest form of brain cancer, and extend patients’ lifespans, a major clinical trial at the University of Virginia School of Medicine and more than 80 other institutions has found.

Science, patients driving rare disease drug research surge

Posted:Mon, 06 Apr 2015 08:30:00 EST

The global pharmaceutical industry is pouring billions of dollars into developing treatments for rare diseases, which once drew little interest from major drug makers but now point the way toward a new era of innovative therapies and big profits. By definition, a rare disease is one that strikes fewer than 200,000 Americans, sometimes only a few dozen.

(Abstract) Vestibular Schwannoma Excision in Sporadic versus Neurofibromatosis Type 2 Populations

Posted:Sat, 28 Mar 2015 08:30:00 EST

Research Highlight: To understand the differences in characteristics of neurofibromatosis type 2 (NF2) and sporadic patients with surgically excised vestibular schwannomas in the state of California. The surgery rates for vestibular schwannoma excision for both sporadic and NF2 patients have declined, but the decline is more prominent for sporadic cases. NF2 patients tend to be younger and have a longer hospitalization and possibly higher corresponding hospital charges compared to patients with sporadic VS.

(pdf) NF MIDWEST – Dr. Chang’s NF2 Symposium Transcript

Posted:Sat, 28 Mar 2015 07:30:00 EST

At our annual symposium on October 25, 2014 Long-Sheng Chang, Phd from The Research Institute at Nationwide Children’s Hospital and Ohio State University College of Medicine presented on the Mutations and Biological Behavior of NF2-Associated Schwannomas and Meningiomas and Potential Therapies. We have now uploaded a transcript from Dr. Chang’s presentation.

Direct evidence of gadolinium deposition in brain tissues following contrast-enhanced MRI exams

Posted:Sat, 28 Mar 2015 06:30:00 EST

New research finds direct evidence of gadolinium deposition in neuronal tissues following intravenous administration of gadolinium-based contrast agents used in MRI exams. “Despite evidence that trace amounts of gadolinium are depositing in neural tissues, there is currently no data to suggest that it’s harmful to patients,” notes one researcher.

(Abstract) Quality of Life (QoL) Assessment in Patients with Neurofibromatosis Type 2 (NF2)

Posted:Thu, 19 Mar 2015 11:30:00 EST

The aim of this study was to develop a multidimensional metric for assessing quality of life (QoL) in patients with neurofibromatosis type 2 (NF2). Overall, QoL in patients with NF2 was lower than that of the general population (P less than .01) and similar to that of patients with cancer. Patients with more facial weakness, hearing loss, and imbalance reported significantly lower QoL. However, domains most predictive of overall QoL were psychosocial, future uncertainty, and pain. Compared with patients with head and neck and brain cancer, patients with NF2 demonstrated significantly higher levels of psychosocial stressors, including disease-related anxiety, personal and financial stress, and lack of social support (P less than.01).

Curcumin proved effective at combating cancer

Posted:Thu, 19 Mar 2015 10:30:00 EST

WA scientists have helped re-affirm that curcumin, a chemical compound found in turmeric, is a safe and promising treatment for most cancers and other inflammation-driven diseases. The international review considered past clinical trials using curcumin to treat cancer patients and concluded curcumin was a safe and effective molecule to treat cancer. A/Prof Sethi says curcumin is possibly the only drug that can be given at high doses—up to 12g—without any toxicity.

Stem Cells Lurking in Tumors Can Resist Treatment

Posted:Thu, 19 Mar 2015 09:30:00 EST

New research proves that the threat posed by cancer stem cells is more prevalent than previously thought. Until now, stem cells had been identified only in aggressive, fast-growing tumors. But a mouse study at Washington University School of Medicine in St. Louis shows that slow-growing tumors also have treatment-resistant stem cells.

The upside of a demolished chromosome

Posted:Thu, 19 Mar 2015 08:30:00 EST

Researchers at the National Institutes of Health in Bethesda, Md., examined the woman’s DNA and found that some of her blood cells were missing the mutant copy of CXCR4 and 163 other genes. In one of her blood-forming stem cells, the chromosome carrying the mutant gene had shattered and reassembled Humpty-Dumpty style, leaving out some genes, the researchers report in the Feb. 12 Cell. Usually when chromosomes shatter, a rare process called chromothripsis (SN: 6/29/13, p. 4), it’s a catastrophe that can lead to cancer. This is the first known case of chromothripsis helping someone, and a rare case of a spontaneous cure of an inherited disease.

In vivo CRISPR-Cas9 screen sheds light on cancer metastasis and tumor evolution

Posted:Thu, 19 Mar 2015 07:30:00 EST

Using next-generation sequencing, the scientists were able to identify which genes were knocked out in the primary tumors and in the metastases, indicating that the genes are likely tumor suppressors that normally inhibit tumor growth but, when knocked out, promote it. The results highlighted some well-known tumor suppressor genes in human cancer, including Pten, Cdkn2a, and Nf2, but included some genes not previously linked to cancer. Unexpectedly, the screen also implicated several microRNAs—small RNA segments that are functional in the cell.

The Health Concerns in Wearable Tech

Posted:Thu, 19 Mar 2015 06:30:00 EST

We have long suspected that cellphones, which give off low levels of radiation, could lead to brain tumors, cancer, disturbed blood rhythms and other health problems if held too close to the body for extended periods. Yet here we are in 2015, with companies like Apple and Samsung encouraging us to buy gadgets that we should attach to our bodies all day long.

CDMRP Neurofibromatosis Research Program Funding Opportunities for Fiscal Year 2015 (FY15)

Posted:Mon, 16 Mar 2015 09:30:00 EST

The FY15 Defense Appropriations Act provides $15 million (M) to the Department of Defense Neurofibromatosis Research Program (NFRP) to support innovative, high-impact NF research. Applications to the FY15 NFRP are being solicited by the U.S. Army Medical Research Acquisition Activity (USAMRAA). The executing agent for the anticipated Program Announcements/Funding Opportunities is the Congressionally Directed Medical Research Programs (CDMRP).

Regeneration of Damaged Neurons Promoted by Cancer Drug

Posted:Sat, 14 Mar 2015 09:30:00 EST

Nerve cells in the limbs, torso and nose can regenerate to some degree and regain some or all of their function. In contrast, the neurons in the brain and spinal cord do not have this ability. An international team of researchers led by DZNE scientists in Bonn now reports in Science that help might be on the way from an unexpected quarter: in animal studies, the cancer drug epothilone reduced the formation of scar tissue in injuries to the spinal cord and stimulated growth in damaged nerve cells. Both promoted neuronal regeneration and improved the animals’ motor skills.

(Abstract) Stereotactic Radiosurgery for Facial Nerve Schwannomas: Meta-analysis and Clinical Review

Posted:Sat, 14 Mar 2015 08:30:00 EST

Research Highlight: Although several small individual series on stereotactic radiosurgery (SRS) for facial nerve schwannomas (FNSs) have been published, we aim to systematically aggregate data from the literature as well as from our institution to better understand the safety and efficacy of SRS for FNS.

A trial looking at sorafenib in skin schwannomas

Posted:Sat, 14 Mar 2015 06:30:00 EST

The aim of this trial is to find out how much sorafenib gets into the skin schwannomas of people with NF 2. This may help doctors to decide whether or not to look at sorafenib in trials as a treatment for tumours caused by a change to the NF 2 gene. Held in the UK, recruitment ends May 30, 2015.

(Abstract) Plexiform schwannoma of the posterior pharyngeal wall in a patient with neurofibromatosis 2

Posted:Fri, 06 Mar 2015 08:30:00 EST

Research Highlight: We report a case of plexiform schwannoma of the posterior pharyngeal wall that occurred in a 37-year-old man who had been previously diagnosed with neurofibromatosis type 2 (NF2). Plexiform schwannoma has been rarely reported in association with NF2. This case illustrates that plexiform schwannoma is a possible finding in NF2 and that transoral laser excision is a safe surgical procedure in such a case.

(Abstract) MS-29 Sorafenib and Regorafenib Inhibit Growth and Migration of Meningioma Cells

Posted:Fri, 06 Mar 2015 06:30:00 EST

Research Highlight: Both drugs consistently had lower effects (MTT assay) in two syngenous derivatives of the benign SF4068 meningioma line exhibiting a massive NF2 loss (shRNA mediated) as compared to two syngenous SF4068 derivatives with NF2 wildtype. This suggests a modifying role of the NF2 status on the effects of Regorafenib and Sorafenib.

(PDF) Intracranial and Intraspinal Tumors: Review of MRI Findings In a Rare NF2 Case

Posted:Sun, 01 Mar 2015 13:30:00 EST

Research Highlight: In this report we aim to report a 24-year-old male who was evaluated for progressive hearing loss, vertigo, ataxic gait and right lower limb weakness. During the workup, cranial CT, Brain and whole Spine MRI was done which showed all the findings in one patient including bilateral vestibulocochlearschwannoma, multiple meningiomas, and intramedullary and extramedullarytumours in spinal cord.

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Posted:Sun, 01 Mar 2015 11:30:00 EST

We have previously estimated that one in two million people will develop bilateral vestibular schwannomas by chance. We show for the first time molecular proof that a man who developed bilateral vestibular schwannomas aged 52 and 67 years of age had developed these by independent events in the NF2 gene with no evidence of a germline or mosaic NF2 mutation or chromosome 22q linked inherited aetiology.

VGH doctor first in Canada to use robotic laser to target brain tumours

Posted:Sun, 01 Mar 2015 10:30:00 EST

A neurosurgeon at Vancouver General Hospital has become the first surgeon in Canada to use new robotic laser heat technology to destroy brain tumours and other abnormal growths inside the skull. “It’s working great. There’s no doubt it kills the cancer cells you want it to kill, and patients are going home the next day instead of being in hospital for three to five days after conventional surgery,” said Dr. Brian Toyota, who has completed three cases in as many months.

An Interview with Dr. Ignacio Blanco

Posted:Sun, 01 Mar 2015 09:30:00 EST

Dr. Ignacio Blanco is not only a highly recognized professional but also a reference for people affected with NF2. His work places patients at the center and he focuses on the progressive complexity the disease carries into their lives. He works as the Coordinator of Consulting and Clinical Genetics at the Hospital Germans Trias i Pujol, Barcelona, and he was one of the organizers of the 16th European Neurofibromatosis Meeting held in the same city, last September.

3D-printed guides can help restore function in damaged nerves

Posted:Sun, 01 Mar 2015 08:30:00 EST

Scientists at the University of Sheffield have succeeded in using a 3D printed guide to help nerves damaged in traumatic incidents repair themselves. The team used the device to repair nerve damage in animal models and say the method could help treat many types of traumatic injury. The device, called a nerve guidance conduit (NGC), is a framework of tiny tubes, which guide the damaged nerve ends towards each other so that they can repair naturally.

A Faster Way to Try Many Drugs on Many Cancers

Posted:Sun, 01 Mar 2015 07:30:00 EST

Chemotherapy and radiation failed to thwart Erika Hurwitz’s rare cancer of white blood cells. So her doctors offered her another option, a drug for melanoma. The result was astonishing. Within four weeks, a red rash covering her body, so painful she had required a narcotic patch and the painkiller OxyContin, had vanished. Her cancer was undetectable. “It has been a miracle drug,” said Mrs. Hurwitz, 78, of Westchester County. She is part of a new national effort to try to treat cancer based not on what organ it started in, but on what mutations drive its growth.

The professor who ‘cured’ his cancer with a cocktail of everyday pills and 20 years on remains disease-free

Posted:Sun, 01 Mar 2015 06:30:00 EST

His doctor wanted him to stick to the standard regimen of surgery, radiotherapy and chemotherapy. But the rebellious Harvard alumnus insisted on adding to this a veritable cocktail of drugs – in addition to the acne pills, there were blood pressure and insomnia tablets. All were cheap and had little or no toxicity, and for all of them Williams had gathered some credible evidence from scientific trials that they might reduce his tumour, boost his immune system and make chemotherapy more effective. But none had been approved in the United States for use in the management of brain tumours, so his own specialist had dismissed them.

Researchers Sheds New Light on Biological Pathways of Vestibular Schwannomas

Posted:Sun, 22 Feb 2015 10:30:00 EST

Researchers from the Eaton-Peabody Laboratories of Massachusetts Eye and Ear and the Harvard Medical School/ Massachusetts Institute of Technology Program in Speech and Hearing Bioscience and Technology have revealed new understanding of the pathobiology behind a head and neck tumor that may someday lead to new methods of targeted drug therapy. Their paper, “Interplay Between VEGF-A and cMET Signaling in Human Vestibular Schwannomas and Schwann Cells,” by Sonam Dilwali, B.S., Daniel Roberts, M.D., Ph.D., and Konstantina M. Stankovic, M.D., Ph.D., FACS, is online in the Feb. 20 issue of Cancer Biology and Therapy.

Synthetic biology yields new approach to gene therapy

Posted:Sun, 22 Feb 2015 09:30:00 EST

Gene therapy aims to replace defective genes with healthy versions. Typically the good genes are packaged with a delivery mechanism called a vector, which transports the genetic material inside cells. With traditional approaches, once in the cell, the gene permanently integrates itself into the cell’s DNA. If a therapeutic gene is inserted in the wrong place in the cell’s DNA, such as too close to a cancer-related gene, the process could activate additional disease-causing genes, resulting in lifelong health problems for the patient.

Pill that could stop both hearing loss and tinnitus is now being tested

Posted:Sun, 22 Feb 2015 08:30:00 EST

A new pill designed to combat both hearing loss and tinnitus is now being tested on patients for the first time. The first drug treatment for both conditions has been developed by scientists in the UK and acts on brain cells involved in the processing of sound. Laboratory studies have shown that the drug has the potential to reduce symptoms of age-related hearing loss and tinnitus.

Sound barrier broken for children born without a hearing nerve

Posted:Sun, 22 Feb 2015 07:30:00 EST

A multi-institutional team of hearing and communication experts led by the Keck School of Medicine of USC is breaking sound barriers for children born without a hearing nerve in a clinical trial backed by the National Institutes of Health. Launched in March 2014, the three-year study has enrolled five of 10 participants and successfully implanted an auditory brainstem implant (ABI) device in four children who previously could not hear.

(Abstract) Conservative Management Versus Stereotactic Radiation for Vestibular Schwannomas

Posted:Fri, 13 Feb 2015 10:30:00 EST

Research Highlight: Current data on conservative management and stereotactic radiation do not provide enough evidence to make a clear conclusion on the outcome of useful hearing preservation in a long-term manner. In this study, however, stereotactic radiation is shown to have better tumor control rates than conservative management. Additional studies reporting long-term follow-ups of patients are required so as to provide the medical field with a better understanding of vestibular schwannoma treatment therapies.

Defeating cancer, the ‘evil genius’

Posted:Fri, 13 Feb 2015 09:30:00 EST

Unlike conventional chemotherapy, which attacks all rapidly dividing cells, targeted drugs focus on the genetic mutations that drive cancer growth. The key to this new generation of cancer drugs is our greater understanding of human genetics.

U.S. to Collect Genetic Data to Hone Care

Posted:Sat, 31 Jan 2015 10:30:00 EST

Saying that “the possibilities are boundless,” President Obama on Friday announced a major biomedical research initiative, including plans to collect genetic data on one million Americans so scientists could develop drugs and treatments tailored to the characteristics of individual patients. White House officials said the “precision medicine initiative” would begin with a down payment of $215 million in the president’s budget request for the fiscal year that starts Oct. 1.

Researchers Find Salicylates, a Class of NSAIDs, Stop Growth of Vestibular Schwannomas

Posted:Sat, 31 Jan 2015 09:30:00 EST

Researchers from Massachusetts Eye and Ear and the Harvard Medical School/ Massachusetts Institute of Technology’s Program in Speech and Hearing Bioscience and Technology have demonstrated that salicylates, a class of non-steroidal inflammatory drugs (NSAIDs), reduced the proliferation and viability of cultured vestibular schwannoma cells that cause a sometimes lethal intracranial tumor that typically causes hearing loss and tinnitus.

Astra Zeneca drive to develop drugs from genome project

Posted:Sat, 31 Jan 2015 07:30:00 EST

Astra Zeneca has announced a research programme to develop a generation of medicines to treat the genetic causes of many debilitating diseases. It will be the first concerted use of an emerging technique called Crispr to “snip out” specific disease genes in order to discover drugs. The technique is cheaper, faster and more accurate than current methods. The research will be carried out with four leading academic and industrial gene-research centres across the world.

Novel Technique Might Enhance Radioguided Surgery

Posted:Sat, 31 Jan 2015 06:30:00 EST

The beta-minus–emitting tracer technique called Y-90 DOTATOC appears to be able to effectively delineate the margins of meningiomas and high-grade gliomas, they say. This in turn may help surgeons better identify residual malignant cells as well as limit radiation exposure for patients and staff. The technique utilizes a radiolabeled tracer that is preferentially taken up by the tumor to differentiate malignant from healthy tissue, along with a probe that is sensitive to the emission released by the tracer.

Man Saves Wife’s Sight by 3D Printing Her Tumor

Posted:Wed, 21 Jan 2015 10:30:00 EST

Micheal Balzer wanted a tangible model of his wife’s (Pamela Shavaun Scott), cranium so that he could get perspective on the location and size of the tumor and think about what kind of treatment to pursue. The standard removal process for a tumor like Scott’s, known as a meningioma, is a craniotomy, in which the skull is sawed open. Her tumor was located under her brain, so to remove it, doctors would have to physically lift her brain out of the way. This is as risky as it sounds. Nerves can be dislodged, and patients can lose their sense of smell, taste, or even sight. Thinking about her thyroid surgery, she and Balzer wondered if a similarly noninvasive procedure might be possible.

Words in the mouth: CSU device lets you hear with your tongue

Posted:Wed, 21 Jan 2015 09:30:00 EST

In the future, those with substantial hearing loss may no longer need a doctor to surgically implant a cochlear device into their ear to restore their sense of sound. If researchers at CSU (Colorado State University) are successful, they may just pop a retainer into their mouths. The team of engineers and neuroscientists are developing a hearing device that bypasses the ear altogether and puts words in the mouth. The technology relies on a Bluetooth-enabled earpiece to detect sound and send electrical impulses to an electrode-packed retainer that wearers press their tongue against to “hear.”

(Abstract) Phase II study of mTORC1 inhibition by everolimus in neurofibromatosis type 2 patients with growing vestibular schwannomas

Posted:Wed, 21 Jan 2015 07:30:00 EST

Research Highlight: We conducted a prospective single-institution open-label phase II study to evaluate the effects of everolimus in ten NF2 patients with progressive VS. Drug activity was monitored every 3 months.

(Abstract) Group I Paks as therapeutic targets in NF2-deficient meningioma

Posted:Wed, 21 Jan 2015 06:30:00 EST

Research Highlight: We assessed the signaling and anti-tumor effects of three group-I specific Pak inhibitors – Frax597, 716 and 1036 – in NF2-/- meningiomas in vitro and in an orthotopic mouse model. Collectively, these results suggest that Pak inhibitors might be useful agents in treating NF2-deficient meningiomas.

Radical therapies that could beat my brain tumor

Posted:Mon, 12 Jan 2015 10:30:00 EST

My medical career ended the day I was diagnosed with a glioma brain tumour, back in 2008. I was given a 50 per cent chance of making it to 2020, but who knows – one of these new options could help me live longer. Nanotherapy. When a tumour is buried deep within the brain, removing it risks causing brain damage. Nanotechnology offers a safer alternative. A technique dubbed Nanotherm involves injecting tiny metallic spheres – just 12 nanometres across – into tumours.

From Vertigo to Tinnitus, Ear Ailments Are New Focus for Drugs

Posted:Mon, 12 Jan 2015 09:30:00 EST

Rob Gerk, a 31-year-old man in Denver who lost most of his hearing when he had meningitis as a toddler is the first patient in a clinical trial of gene therapy aimed at regenerating hair cells. The trial is being sponsored by Novartis and uses a gene therapy developed by GenVec, a Maryland biotech company. Companies are also working on drugs for tinnitus, in which sound is perceived without a source of the sound being present.

Research findings have implications for regenerating damaged nerve cells

Posted:Mon, 12 Jan 2015 07:30:00 EST

Two new studies involving the University of Colorado Boulder and the University of Queensland (UQ) in Brisbane, Australia have identified a unique molecule that not only gobbles up bad cells, but also has the ability to repair damaged nerve cells. The finding that the PSR-1 molecule also can help reconnect and knit together broken nerve fibers, called axons, that has caught the attention of both science teams.

Elastic implant ‘restores movement’ in paralysed rats

Posted:Mon, 12 Jan 2015 06:30:00 EST

An elastic implant that moves with the spinal cord can restore the ability to walk in paralysed rats, say scientists. Implants are an exciting field of research in spinal cord injury, but rigid designs damage surrounding tissue and ultimately fail. A team at Ecole Polytechnique Federale de Lausanne (EPFL) has developed flexible implants that work for months.

CDMRP (Congressionally Directed Medical Research Programs) Research Funding for 2015

Posted:Tue, 06 Jan 2015 09:30:00 EST

The Fiscal Year 2015 Department of Defense Appropriations Act provides research funding for the following peer reviewed programs managed by the Department of Defense office of Congressionally Directed Medical Research Programs (CDMRP): Neurofibromatosis Research Program – $15.0 million.

(Abstract) Gamma Knife radiosurgery for meningiomas in patients with NF2

Posted:Tue, 06 Jan 2015 08:30:00 EST

Research Highlight: The role of stereotactic radiosurgery (SRS) is poorly defined in NF2, and although the procedure has excellent control rates in the non-NF2 population, its utility has been questioned because radiation has been hypothesized to predispose patients to malignant transformation of benign tumors. To the authors’ knowledge, this is the first study to examine the use of SRS specifically for meningiomas in patients with NF2.

An Ultrasonic Scalpel for Brain Surgery

Posted:Tue, 06 Jan 2015 07:30:00 EST

Through “transcranial focused ultrasound,” physicians can now use high frequencies of ultrasound (typically from 650 to 710 kilohertz) to create discrete lesions in brain tissue without making direct physical cuts. Patients and doctors alike hope this could be a transformative tool for treating many different psychiatric and neurological disorders more easily and more effectively.

(Abstract) Neurofibromatosis-related tumors: emerging biology and therapies

Posted:Tue, 06 Jan 2015 06:00:00 EST

Research Highlight: Clinical trials with molecular-targeted therapies have become a reality for neurofibromatosis patients, and hold substantial promise for improving the morbidity and mortality of individuals affected with these disorders.