Volume 22: Spring, 2023

Highlights

• NF1 MPNSTs: Researchers discover genomic signatures of MPNSTs that could hopefully be used one day to predict an individual's prognosis and response to treatment using only a blood test.
• ​​​​​​​​​​​​​​​​​​​​​NF1 Learning Disabilities: Certain executive functioning skills are linked with academic performance over time in children with NF1.​​​​​​​
• ​​​​​​​NF1 Clinical Management: Free papers share European clinical guidelines for NF1-related tumor surveillance and resources for adolescents transitioning from pediatric to adult care settings.
• NF1 Biology: Combining MEK inhibitors like selumetinib and mirdametinib with other medications may lead to more effective treatment options for plexiform neurofibromas and MPNSTs.
• NF2 Clinical Trials: Using a lower dose of bevacizumab for long-term maintenance treatment is effective at controlling tumor size and preserving hearing, and safer than standard doses.
• NF2 Biology: Ubiquitin proteasome pathway inhibitor medications such as ixazomib show promising preclinical testing results against schwannomas and meningiomas.
• Schwannomatosis: New mouse model of schwannomatosis using patient tumor tissue shows that blocking IL-6 can reduces pain, supporting a soon-to-launch clinical trial testing siltuximab and other medications for treatment of schwannomatosis-related pain.
• Quality of Life: A review of previously published papers summarizes psychological and social difficulties of NF1, as well as protective factors and coping strategies used by people with NF1.

Volume 21: Winter, 2022

Highlights

• NF1 Clinical Trials: Selumetinib, which is already approved to treat symptomatic plexiform neurofibromas in children with NF1, may also help prevent symptoms from ever developing in children with asymptomatic plexiform tumors in high-risk locations of the body.
• NF1 MPNSTs: Research on a blood test to diagnose MPNSTs early expands, and a new, first-in-class REF1 inhibitor shows promising results in the lab to potentially treat MPNSTs.
• NF1 Optic Pathway Gliomas: Treating mice with the antiseizure medication lamotrigine helped prevent optic pathway gliomas from forming and growing.
• NF1 Clinical Management: Many internal neurofibromas may shrink over time without any treatment in adults with NF1.
• NF1 Biology: First genetically engineered mouse model of cutaneous neurofibromas established.
• NF2 Clinical Trials: A phase 2 clinical trial of icotinib shows modest success in shrinking/ stabilizing vestibular schwannomas and improving hearing over one year of treatment.
• NF2 Biology: Researchers test multiple strategies for gene therapy in NF2, including a technique to correct the mutated NF2 gene in tumors so that cells can produce a functional NF2 protein.
• Schwannomatosis: Two clinical trials to treat schwannomatosis-related pain are underway
• Quality of Life and Other NF Updates: People with NF1, NF2, and schwannomatosis do not appear to be at increased risk of getting COVID-19 or being hospitalized with COVID-19.  

Volume 20: Fall, 2021

Highlights

• NF1 Clinical Trials: L-carnitine supplements were safe and well-tolerated by children with NF1 in a small clinical trial; future trials will confirm whether these supplements can improve children’s muscle strength and endurance.
• NF1 Learning Disabilities: Initial testing shows that MEK inhibitors like selumetinib and computer training games like Cogmed might improve cognitive functioning in children with NF1.
• NF1 MPNSTs: A new blood test analyzing cell-free DNA from tumors that floats in our bloodstream holds exciting promise for early detection and monitoring of MPNSTs.
• NF1 Optic Pathway Gliomas: Treating mice with MEK inhibitors like mirdametinib shortly after birth may prevent optic pathway gliomas from forming.
• NF2 Clinical Trials: Analyzing resected tumors from NF2 patients taking everolimus helps uncover why the drug was not as effective as hoped in shrinking vestibular schwannomas.
• NF2 Biology: Two FDA-approved drugs - brigatinib and losartan – hold promise for being repurposed to treat vestibular schwannomas and other NF2-related tumors.
• Quality of Life: Treating depression may help buffer the impact of pain on people’s everyday lives; similarly, building resiliency may help reduce the impact of stress on people’s quality of life.   
• REiNS Update: A new series of articles highlights NF clinical trial recommendations, including how NF patients and their family members have contributed to REiNS research.

Volume 19: Spring, 2021

Highlights

• NF1 Clinical Trials: In Phase II clinical trials, both mirdametinib and cabozantinib shrunk plexiform neurofibromas in 42% of participants (all ages 16+) and seem to have improved participants’ tumor-related pain.
• NF1 Basic Science: Disrupting RAC1 gene function helps prevent plexiform neurofibromas from forming in mice, and treatment with mebendazole and celecoxib may help prevent malignant peripheral nerve sheath tumors (MPNSTs) from forming in mice.
• Clinical Management of NF: The COVID-19 pandemic delayed appointments and clinical trial enrollment in U.S. NF clinics, but also radically increased the use of telehealth for NF care. 
• NF2 Update: Researchers determine safe dose of AR-42 (also called REC-2282) for use in future clinical trials; researchers review the signaling pathways affected by NF2 mutations and how different drugs target these pathways.
• Schwannomatosis Update: People being diagnosed with schwannomatosis benefit from education, psychosocial support, and a collaborative relationship with their doctor. Researchers find molecular differences in schwannomas from people with and without schwannomatosis. 
• Quality of Life: A brief psychosocial intervention delivered over the phone by other people with rare diseases may improve coping skills in adults with NF.  Researchers develop a new measure of quality of life specifically for adults with plexiform neurofibromas.

Volume 18: Autumn, 2020

Highlights

• NF1 Clinical Trials: Selumetinib shrank plexiform neurofibromas in 68% of children and improved pain, motor function, appearance, and quality of life for many participants, leading to FDA approval of Selumetinib for kids with NF1 and symptomatic plexiform neurofibromas.
• NF1 Clinical Trials: Selumetinib and everolimus are both promising treatments for low-grade gliomas that did not respond to prior chemotherapy in children and young adults with NF1.
• NF1 Translational Science: Minipigs can mimic NF1 symptoms and be used to test new treatments; dietary supplements with L-carnitine improve muscle function in mice with NF1.
• Cutaneous Neurofibromas: European adults with NF1 say #1 treatment priority for cutaneous neurofibromas is developing a new cream, pill, or implant to block their continued growth.
• NF2 Clinical Trials: Higher doses of bevacizumab are no more effective than standard doses in treating vestibular schwannomas.
• Schwannomatosis Update: Damage to small nerve fibers called C-fibers may play a role in causing schwannomatosis pain.​​​​​​​​​​​​​​
• Quality of Life: A small-group, live-video intervention teaching resiliency and coping skills successfully improves the quality of life of teenagers with NF1 and NF2.

Volume 17: Autumn, 2019

Highlights

• Breast Cancer Risk in NF1 – The risk of developing a second breast cancer (on the other side) in NF1 is elevated compared to sporadic breast cancers, and breast cancer survival in NF1 is lower. This information should be taken into consideration when considering treatment and surveillance.
• Heart and Blood Vessel Abnormalities in NF1 – Developmental defects in heart structure and function are frequent in NF1, and may correlate with specific mutation types.
• Malignant Peripheral Nerve Sheath Tumors (MPNST) – While the result of a reported clinical trial is negative, new genetic targets and new imaging tools are also reported which are advancing the field of MPNST.
• Other Clinical Features of NF1 – A large series of patients with NF1-associated dural ectasia (outpouching of the sac that keeps the spinal fluid in place) gives insight into management strategies.
• Quality of Life in NF1, NF2, and Schwannomatosis – Quality of life and patient reported outcomes are discussed in plexiform neurofibromas and cutaneous neurofibromas, respectively, as well as resiliency training and quality of life measures in adults with NF2.
• NF2 Diagnosis and Clinical Management – Speech and swallow dysfunction are common with NF2, and it is important to consider both patient reports and test results, which don’t always align.
• Schwannomatosis Update – Painful schwannomas secrete inflammatory cytokines, which increase sensory nerve reactivity to pain, and may be a therapeutic target for schwannoma-related pain.

Volume 16: Spring, 2019

Highlights

• NF1 Clinical Trials – A pilot study of everolimus for cutaneous neurofibromas led to significant shrinkage of a minority of tumors for a small number of patients tested.
• Breast Cancer Risk in NF1 – New genetic information better informs breast cancer risk for patients with NF1, and reveals unique and targetable information about breast tumors.
• NF1 and the Eye: Optic Pathway Gliomas and Other Features – There are distinct differences in the genetic makeup of gliomas in patients with NF1 vs sporadic gliomas.
• What’s new in NF1 biology – Researchers found both a vaccination and a medication that reduce pain in rodents with pain from NF1 and other sources.
• Malignant Peripheral Nerve Sheath Tumors (MPNST) – MPNST usually arise from plexiform neurofibromas, with an intermediary pathological stage as atypical neurofibroma. Here, researchers define the genetic changes that occur between atypical and malignant tumors.
• NF1 and Autism – Simvastatin treatment has a direct impact on MRI findings associated with autism spectrum disorder, and early indication of behavioral benefit as well
• Social Challenges in Neurofibromatosis – Social isolation and distress are reduced by participation in a social network specifically for caregivers of children with NF1.
• Clinical Trials for NF2 – A vaccination targeting VEGF (the same target as Avastin) shows early promising outcomes in controlling tumor size and hearing.
• NF2 Diagnosis and Clinical Management – Lapatinib treatment led to significant shrinkage of meningiomas in a large minority of tumors, and stabilization in another large proportion.
• What’s new in NF2 biology – Crizotinib shows the ability to slow schwannoma cell growth in culture, and allows for a lower dose of radiation to have the same anti-tumor effect but with less side effect potential.
• Schwannomatosis Update – New research shows a correlation between genetic alteration and pain severity in schwannomatosis. Also, an updated study population frequency of schwannomatosis is presented.

Volume 15: Winter, 2017

Highlights

• NF1 Quality of Life and Mental Health: Children with NF1 have high rates of emotional distress and negative effects on quality of life, and newly validated questionnaires may identify patients with these symptoms, who would benefit from intervention.
• Optic Pathway Gliomas in NF1: Mutations in the front part of the NF1 gene (especially those that prematurely stop NF1 protein production) are associated with a higher risk of optic pathway glioma development.
• Optic Pathway Gliomas in NF1: Only 15% of optic pathway gliomas required treatment in a recent study, and most were treated due to vision impairment. No optic pathway glioma found incidentally on MRI (e.g. without symptoms) required treatment.
• Malignant Peripheral Nerve Sheath Tumors: NF1-associated MPNSTs tend to develop earlier, have more severe symptoms, and worse outcomes than sporadic MPNSTs.
• NF2 Malignancy Potential:  Among patients without prior irradiation, no malignant peripheral nerve sheath tumor or malignant glioma was found in a large database of patients with NF2.
• NF2 symptoms: Voice and swallow dysfunction occur in 35% and 50% of patients with NF2, respectively. These symptoms affect quality of life and should be discussed with physicians in case of opportunities for therapy.
• Schwannomatosis Update: New insights on the genetic sequence of events that cause schwannomatosis were reported, and a new strain of mouse that mimics the actual human disease was created.
• Communication with Medical Teams: Evaluating a patient or family’s ability to understand medical information may improve communications with healthcare team.

Volume 14: Spring, 2017

Highlights

• NF1 Clinical Trials: In an early stage clinical trial, selumetinib shrank plexiform  neurofibromas in 71% of children, with anecdotal improvements in appearance, pain and motor function.   
• NF1 Clinical Trials: Lovastatin does not significantly improve visual/spatial processing or attention in children with NF1.
• NF1 Brain Tumors: Larger optic pathway gliomas are more likely to cause vision problems; research in mice suggests that estrogen might lead to more vision problems in females.
• NF2 Clinical Management:  Bevacizumab can shrink fluid-filled cysts in spinal ependymomas, leading to clinical improvements in some patients.
• Schwannomatosis Update: An international patient registry seeks to increase research opportunities and collaborations for schwannomatosis.
• Quality of Life: Two new surveys specifically designed to measure quality of life in children, adolescents and adults with NF1 are being developed.

Volume 13: Fall, 2016

Highlights

• Congressional Update: Twenty-one new NF projects are being funded by the Congressionally Directed Medical Research Program - Neurofibromatosis Research Program (CDMRP-NFRP).
• NF Clinical Trials: Pegylated interferon slows down the growth of plexiform neurofibromas in young people with NF1; vinblastine may be an effective treatment for optic pathway glioma.
• NF1 Biology: Researchers study how neurofibromas begin and later transform into MPNSTs, with some success identifying potential genes and pathways that new drugs can target.
• NF2 Clinical Management: Researchers review auditory brainstem implants in NF2.
• NF2 Biology: Research using two FDA-approved drugs, celecoxib and crizotinib, to treat schwannomas shows promising results in the lab and in mice.
• Schwannomatosis Update:  A special type of MRI reveals nerve abnormalities in people with segmental schwannomatosis.
• Quality of Life:  The Relaxation Response Resiliency Program (3RP) delivered over Skype shows promising results in improving quality of life of adults with NF1, NF2, and schwannomatosis.

Volume 12: Summer, 2016

Highlights

• NF1 Learning Disabilities: Lovastatin may help improve memory in children and adults with NF1.
• NF1 and Cancer: People with NF1 under 30 are the most likely to develop brain tumors or MPNST; women with NF1, especially those under 45, have an increased risk of breast cancer.
• NF1 Brain Tumors: Children with NF1 and low grade gliomas have good short-term and long-term survival after treatment; controversy continues over MRI screening for optic pathway gliomas.
• NF2 Vestibular Schwannomas: Treatment with bevacizumab can improve hearing in some patients with NF2; a new mouse model offers a good opportunity to test new drugs.
• Schwannomatosis Update: Schwannomas may appear cancerous on PET scans even when they are not; advances in MRI techniques may improve our ability to understand this phenomenon.
• Quality of Life: A preliminary study of Acceptance and Commitment Therapy (ACT) shows promising results helping adolescents with NF1 and chronic pain.

Volume 11: Spring, 2016

Highlights

• Congressional Update: $15 million in funding is secured for the Congressionally Directed Medical Research Program-Neurofibromatosis Research Program (CDMRP-NFRP) in 2016!
• NF1 Learning Disabilities: Large brain size in NF1 may relate to learning and social disabilities; the challenge of translating findings in mice to clinical applications in humans is examined.
• NF1 Tumors: Old imaging technologies to monitor MPNSTs are used in new ways; hormones and neurofibroma growth are examined; what makes plexiform tumors bleed during surgery?
• NF2: Successful use of cochlear implants and auditory brainstem implants in people with NF2 is reported; researchers focus on children with NF2.  
• Schwannomatosis: New cell lines will help open up research into this rarest form of NF.
• Breast Cancer in NF1: Two different outcomes highlight the importance of this area.
• New Roles for the NF1 Gene: The NF1 gene emerges as a regulator of brain progenitor cells and also plays a role in chromosome organization and very early cardiovascular development.

Volume 10: Fall, 2015

Highlights

• New insights into how Bevacizumab is used to treat NF2 schwannoma and ependymoma tumors.
• How a new UK Registry facilitates exploration of the causes and predictors of mortality in NF2.
• Impact of migraine and pain on NF1 quality of life.
• An analysis of teaching approaches to improve reading skills in children with NF1.
• How NF2 schwannomas arise in the brain, and their possible relevance to treatment decisions.
• NF2 biology updates: new drug candidates for meningiomas, understanding merlin biology.
• The value of early life monitoring for NF1 optic pathway gliomas using MRI.

Volume 9: Summer, 2015

Highlights

• A new mouse model of NF1 dystrophic scoliosis: A new mouse model will allow closer study and drug testing.
• Malignant peripheral nerve sheath tumors: New drug targets show promise; studies examine a “personalized medicine” approach to finding the right drug treatments.  
• Increased age-specific breast cancer risk in NF1: A British population study suggests women with NF1 may be at greatest increased risk of breast cancer in their 30’s.
• NF1 learning disabilities: A new candidate drug target is identified; studies examine impact of NF1 mutation type.  
• Recognizing early life cognitive differences in NF1: Differences in brain function in children with NF1 may be seen in the first months of life, before they are recognized by parents.  
• Quality of life in NF2: Complications of NF can prevent people from engaging with the world. New studies examine how challenges may be identified and addressed. 
• NF2 Drug Treatments: Bevacizumab remains most promising; studies suggest tapering down the dose to reduce side effects while maintaining the drug’s tumor-treating effects.

Volume 8: Spring, 2015

Highlights

• A new NF1 patient registry highlights the value of patient-reported data.  
• rhBMP-2, a candidate drug for promoting bone healing shows promise in NF1 mouse models.  
• In NF1, understanding autism spectrum disorder and finding evidence for depression risk.  
• SUZ12, a new genetic regulator of MPNSTs and candidate drug target; testing new MPNST drugs.  
• Methylphenidate shows promise for treatment of AD(H)D in NF1. 
• Children with NF1 have compromised motor skills, not necessarily due to attention deficits.
• Implicating the NF1 gene in alcohol dependence. 
• A closer look at Sirolimus treatment of plexiform tumors – do people respond differently to this?
• What makes meningiomas become malignant? New candidate treatments for these NF2 tumors.
• Hope comes from a promising single-case trial of Bevacizumab to treat schwannomatosis.

Volume 7: December, 2014

Highlights

• Survey of insurance claims shows NF1 may be linked to higher risk of other medical conditions.
• Candidate drugs to improve bone mineralization and treat pseudarthrosis in NF1 are presented; sunshine exposure improves Vitamin D levels in NF1 but still falls short. 
• From MPNST biology, a new candidate drug and two new drug targets emerge.  
• Impact of NF1 on communication, academic success in early life, and later lifestyle is examined.  
• In NF1 clinical trial, drug Sirolimus doesn’t shrink plexiform tumors, but it may help with NF1-related learning and behavioral challenges.  
• Bevacizumab shows promise in clinical trial for treatment of the rare NF1 high-grade glioma.
• New mouse model of NF2 represents human condition, opens the door to new research.  
• Quality of life impact is a key consideration in selecting NF2 treatment regimes.

Volume 6: Fall, 2014

Highlights

• Understanding aneurysms and stenosis in NF1. 
• Exploring Methylphenidate (Ritalin) for treatment of attention deficits in NF1.  
• Real-life impact of NF1 learning disabilities on individuals and families.
• Interpreting MRI hyperintensities in the NF1 and the NF2 brain.
• New candidate drug targets and treatment approaches for NF1 and NF2.  
• Surgical decision making in NF2 clinical management.  
• Updates on clinical trial and drug treatment reports for NF1 and NF2.  
• A new schwannomatosis gene is identified.  
• Legius Syndrome updates; possible genetic links to leukemia.

Volume 5: Fall, 2013

Highlights

• Social challenges for those with NF1 and NF2. 
• A new look at life expectancy in NF1 and NF2.  
• Unique considerations of seizure and epilepsy management in NF1.  
• NF1 learning disabilities – clinical trials update; new modes of early detection; a possible link with sleep disorders.
• Updates on monitoring for MPNSTs; developing targeted drugs for these tumors.
• New NF2 candidate drug targets.
• The search for NF1-related gene mutations beyond the NF1 gene.  
• A definitive link between autism and NF1.

Volume 4: Summer, 2013

Highlights

• New biological markers to better predict development of MPNSTs. 
• Imaging brain structure: a new approach to measuring NF1 vision loss in NF1?
• A potentially helpful role for radiotherapy following NF2 meningioma surgery.  
• Café-au-lait marks may carry secrets of NF1 biology. 
• Children with NF1 have reduced brain blood flow. 
• New NF2 drug therapy shows promise. 
• Growth factor TGF-beta contributes to NF1 bone abnormalities. 
• Special considerations for surgical management of very large NF1 plexiform tumors. 
• Sleep disturbances in NF1. 
• A new mouse model for studying NF1 learning disabilities.  
• Early screening for BRCA mutations in women with NF1 to detect breast cancer risk.
• Multiple-spinal-menigioma disease, a new genetic condition defined.

Volume 3: Spring, 2013

Highlights

• Evaluating progress in the CDMRP NF Clinical Trial Consortium.
• Bevacizumab is not effective in shrinking NF2 meningiomas.
• Women with NF1: challenges faced in pregnancy.
• Young adults with NF1 often overlook the importance of their clinical care.
• New quality of life surveys for those with NF1 and NF2 could help detect health concerns.
• High blood pressure and vascular health issues may affect children with NF1.
• Breakthrough findings uncover the basis of nerve damage and pain in NF2.
• International consensus update on schwannomatosis diagnosis and clinical care.
• NF2 diagnosis in infancy may predict poorest outlook.
• Update on genetic testing for Legius Syndrome.

​​​​​​Volume 2: Winter, 2013

Highlights

• CDMRP NFRP – A Critical Funder of NF Research. 
• A Focus on NF1 Malignant Peripheral Nerve Sheath Tumors. 
• NF2 Clinical Management Updates. 
• NF1 Learning Disabilities: News from the Clinic and the Bench.
• NF1 Clinical Management Updates. 
• What’s New in NF2 Biology?
• Heart and Blood Vessel Abnormalities in NF1: New Findings. 
• What’s New in NF1 Biology?
• NF1 Bony Abnormalities Update. 
• The Evolving Link Between NF and Cancer.

Volume 1: Fall, 2012

Highlights

• Impact of the Neurofibromatosis Network on Federal NF Research Funding.
• CDMRP NFRP Clinical Trials Network Expands.
• NF1 Clinical Trials.
• NF1 Clinical Management.
• NF2 Clinical Trials.
• NF2 Clinical Management.
• NF1 Learning Disabilities.
• NF1 Bony Abnormalities.
• Schwannomatosis Update.
• Increased Breast Cancer Risk in NF1.
• Other Clinical Features of NF1.
• What’s New in NF1 Biology and Drug Targets?
• What’s New in NF2 Biology and Drug Targets?
• Legius Syndrome Update.