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Understanding Neurofibromatosis Type 2 an INTRODUCTION for PATIENTS and PARENTS

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To Leah, the Sexton Family and everyone affected by NF2. “We cannot change the cards we are dealt, just how we play our hand.” (The Last Lecture, by Randy Pausch) Our hope someday is that there will be no need for this booklet. To the researchers and doctors who have dedicated their professions to finding treatments fot NF2: We did not choose NF2, but we are forever grateful you have. Project Leader: Kim Bischoff Layout and editing: Kelly Walsh-Curtis Published through the NF Network, 2012 www.nfnetwork.org Understanding Neurofibromatosis Type 2 AN INTRODUCTION FOR PATIENTS AND PARENTS Introduction What are the other forms of Neurofibromatosis? The purpose of this book is to assist NF2 patients and their family members Neurofibromatosis 1 (NF1): also to gain information and to know that known as von Recklinghausen NF or you are not alone. As you begin your Peripheral NF. NF1 occurs in 1:3,000 NF2 journey you may have feelings births, is characterized by multiple similar to others before you. You are cafe-au-lait spots and neurofibromas overwhelmed, wishing it would all go on or under the skin. Deformation of away, and most of all scared. Suddenly bones and curvature of the spine (sco- all the hopes and dreams you have for liosis) may also occur. Occasionally, yourself/family member may feel like tumors may develop in the brain, on they are being taken away. NF2 re- cranial nerves, or on the spinal cord. search continues to advance and scien- About 50% of people with NF also tists are beginning to piece together the have learning disabilities. NF2 puzzle. We now have hope that surgery will not be the only treatment Schwannomatosis: a rare form of NF for NF2 tumors, and that research that has only recently been recognized may lead to salvaging hearing, the and appears to affect around 1:40,000 life-altering sense typically robbed by individuals. It is less well understood those affected with NF2. Hopefully, than NF1 and NF2, and features may you will be glad you read this booklet, vary greatly between patients. more informed at the end, but most of all feeling optimistic that you are not alone and that together we can make ...together we can make a difference a difference and improve the lives of and improve the lives of those those affected by NF2. affected by NF2... 1 the first person in their family to have What is NF2? NF2. Neurofibromatosis type 2 is a genetic condition that causes a predisposition What are the presenting symptoms? to develop bilateral (affecting both The typical presenting symptoms for sides) vestibular schwannomas (tu- adult NF2 patients include hearing mors on the 8th cranial nerve, which loss, tinnitus (“ringing” in the ear), affect hearing and balance) and other and balance problems. In pediatric tumors on any nerves in the body. Pa- NF2 patients, presenting symptoms tients are born with NF2; it is not ac- may also include skin tumors, visual quired during life. problems, spinal cord compression, and seizures. How is NF2 different from unilateral vestibular schwannoma (acoustic How is a diagnosis of NF2 neuromas)? confirmed? Unilateral (one-sided) vestibular A diagnosis of NF2 is confirmed by schwannomas are common in the gen- clinical and radiologic evaluation. eral population and account for about There are multiple criteria that physi- 7-9% of all brain tumors. The aver- cians use including the National Insti- age age at presentation for a unilateral tutes of Health (NIH) criteria and the vestibular schwannomas is around 55 Manchester criteria. Your physician years. In contrast, bilateral vestibu- can provide details about the individ- lar schwannomas are characteristic of ual criteria. Essentially, three groups NF2. NF2 patients typically present in of patients meet these criteria. The the late teens or early 20s with symp- first group of patients includes those toms related to vestibular schwanno- with bilateral vestibular schwannomas mas. Some patients with NF2 can have on MRI scans. The second group of unilateral vestibular schwannomas plus patients includes those with a family other features of NF2 such as menin- history of NF2 in a first degree rela- giomas, non-vestibular schwannomas tive (eg., a parent or brother/sister) or cataracts. and a personal history of vestibular schwannoma (either unilateral or bi- How common is NF2? lateral). The third group of patients Neurofibromatosis 2 is an uncom- includes those with no family history mon disorder thought to occur in 1 of NF2 but with a unilateral vestibu- in 25,000 live births. Although it is lar schwannoma and at least 2 other a genetic disorder, many patients with clinical signs of NF2 that may include NF2 lack a family history. This oc- meningioma, neurofibroma, ependy- curs in about half of patients who are moma, or juvenile cataracts. 2 Why do I have NF2? NF2 presents in two different ways. In about half of the patients it is inherited from a parent, the term familial is used in these cases. The other half of patients have no family history and the term sporadic is used. A genetic mutation occurs shortly after fertilization, resulting in the NF2 gene alteration. Some sporadic cases present as mosaic NF2, a genetic term that means not all of the cells in their body have the NF2 gene alteration. Patients with mosaic NF2 may have milder symptoms compared to others. Key: squares = men; circles = women; filled in = affected with NF2; unfilled = unaffected Typical family tree for someone who inher- Typical family tree for someone who is the its NF2, each generation may be affected by first in their family with sporadic NF2. familial NF2. If I have NF2, what about my children? The transmission pattern for NF2 is autosomal dominiant. Meaning, on average, each pregnancy carries a 50% risk of passing the NF2 gene onto your children, whether the father or mother has NF2. The one ex- ception to this may be mosiac patients, whose risk may be less NF2 is passed by autoso- NF2 occurs sporadically in than 50%. For all those affect- mal dominance in about about half the cases, there is half the cases. If one no family history, they are ed by NF2, a genetic special- parent has NF2, just like the first in the family to be ist can help estimate the risks tossing a coin, each preg- diganosed. nancy carries a 50% risk based on your personal medical of NF2 passing onto the history. child. 3 What tests are important for a Chronic hearing loss is defined as a patient with a new diagnosis of decline in hearing over time (months NF2? to years). Surprisingly, there is a poor Patients with a new diagnosis of NF2 correlation between tumor size and should undergo an extent-of-disease hearing loss in patients with NF2. In evaluation. The goal of this evaluation practice, patients with large tumors is to understand what manifestations may have good hearing and patients of NF2 an individual patient has. The with small tumors may be deaf. Sur- evaluation may include an MRI scan gery is the mainstay of treatment for of the brain with contrast and with vestibular schwannomas, but medica- fine cuts (3 mm slices) through the tions are currently being studied as a internal auditory canal, an MRI scan treatment option. Surgeries that in- of the spine, a hearing test (including clude cochlear nerve implants and au- measurement of pure tones thresholds ditory brain stem implants maybe an and word recognition score), and an option for hearing assistance. ophthalmologic evaluation. In some individuals, evaluation of swallowing Potential complications of surgery or voice quality is indicated. In some include: Complete hearing loss, facial patients (those considering starting a weakness, hoarseness, difficulty swal- family), genetic counseling is also ad- lowing, and headache. It is important visable. for NF2 patients to consult with ex- perienced surgeons when they are What’s the deal with vestibular considering surgery for their vestibu- schwannomas? lar schwannomas. Studies have shown Vestibular schwannomas are the hall- that medical centers that perform mark tumor of NF2. These tumors are many surgeries have better outcomes associated with hearing loss that can than centers that perform only a few occur suddenly or gradually over time. surgeries. Sudden hearing loss is defined as a decrease in hearing that occurs in Facial weakness is associated with a re- less than 72 hours. This type of hear- duced quality of life in a patient with ing loss is usually treated with steroid NF2. Facial weakness can involve the medications taken by mouth and usu- upper face (forehead and eyes), mid- ally recovers with treatment. When pa- face (cheeks and nose), and lower face tients experience sudden hearing loss, (mouth and chin). There are surgical they should contact their medical team and non-surgical procedures that can immediately for treatment. improve this problem. 4 Patients with upper facial weakness dren with NF2 unless all other options usually have difficulty completely clos- have been considered. ing their eyes. If left untreated, this can result in scarring of the surface of the Medical researchers are actively look- eye (cornea) and ultimately blindness. ing for new treatments for NF2-relat- For this reason, treatment of facial ed vestibular schwannomas. Currently, weakness is essential for NF2 patients. clinical trials are underway to identify Patients with a “facial droop” are often new medicines to treat these tumors. self-conscious about their appearance. What’s the deal with meningiomas? Dealing with issues of self-esteem Meningiomas are benign (non-can- is important in maintaining mental cerous) tumors of the covering of the health for NF2 patients. brain and spinal cord.
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    Neurofibromatosis Type 2 (NF2)

    International Journal of Molecular Sciences Review Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis Suha Bachir 1,† , Sanjit Shah 2,† , Scott Shapiro 3,†, Abigail Koehler 4, Abdelkader Mahammedi 5 , Ravi N. Samy 3, Mario Zuccarello 2, Elizabeth Schorry 1 and Soma Sengupta 4,* 1 Department of Genetics, Cincinnati Children’s Hospital, Cincinnati, OH 45229, USA; [email protected] (S.B.); [email protected] (E.S.) 2 Department of Neurosurgery, University of Cincinnati, Cincinnati, OH 45267, USA; [email protected] (S.S.); [email protected] (M.Z.) 3 Department of Otolaryngology, University of Cincinnati, Cincinnati, OH 45267, USA; [email protected] (S.S.); [email protected] (R.N.S.) 4 Department of Neurology, University of Cincinnati, Cincinnati, OH 45267, USA; [email protected] 5 Department of Radiology, University of Cincinnati, Cincinnati, OH 45267, USA; [email protected] * Correspondence: [email protected] † These authors contributed equally. Abstract: Patients diagnosed with neurofibromatosis type 2 (NF2) are extremely likely to develop meningiomas, in addition to vestibular schwannomas. Meningiomas are a common primary brain tumor; many NF2 patients suffer from multiple meningiomas. In NF2, patients have mutations in the NF2 gene, specifically with loss of function in a tumor-suppressor protein that has a number of synonymous names, including: Merlin, Neurofibromin 2, and schwannomin. Merlin is a 70 kDa protein that has 10 different isoforms. The Hippo Tumor Suppressor pathway is regulated upstream by Merlin. This pathway is critical in regulating cell proliferation and apoptosis, characteristics that are important for tumor progression.
  • Risk Factors for Gliomas and Meningiomas in Males in Los Angeles County1

    Risk Factors for Gliomas and Meningiomas in Males in Los Angeles County1

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  • Information About Mosaic Neurofibromatosis Type 2 (NF2)

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    Information about mosaic Neurofibromatosis type 2 (NF2) NF2 occurs because of a mutation (change) in the NF2 gene. When this change is present at the time of conception the changed gene will be present in all the cells of the baby. When this mutation occurs later in the development of the forming embryo, the baby will go on to have a mix of cells: some with the “normal” genetic information and some with the changed information. This mix of cells is called mosaicism. Approximately half the people who have a diagnosis of NF2 have inherited the misprinted NF2 gene change from their mother or father who will also have NF2. They will have that misprinted gene in all the cells of their body. When they have their children, there will be a 1 in 2 chance of passing on NF2 to each child they have. However about half of people with NF2 are the first person in the family to be affected. They have no family history and have not inherited the condition from a parent. When doctors studied this group of patients more closely they noticed certain characteristics. Significantly they observed that fewer children had inherited NF2 than expected some people in this group had relatively mild NF2 NF2 tumours in some patients tended to grow on one side of their body rather than both sides that when a blood sample was tested to identify the NF2 gene, the gene change could not be found in 30-40% of people This lead researchers to conclude that this group of people were most likely to be mosaic for NF2 i.e.
  • Adrenal Neuroblastoma Mimicking Pheochromocytoma in an Adult With

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  • A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1

    A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1

    KISEP J Korean Neurosurg Soc 36 : 69-71, 2004 Case Report A Case of Intramedullary Spinal Cord Astrocytoma Associated with Neurofibromatosis Type 1 Jae Taek Hong, M.D.,1 Sang Won Lee, M.D.,1 Byung Chul Son, M.D.,1 Moon Chan Kim, M.D.2 Department of Neurosurgery,1 St. Vincent Hospital, The Catholic University of Korea, Suwon, Korea Department of Neurosurgery,2 Kangnam St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea The authors report a symptomatic intramedullary spinal cord astrocytoma in the thoracolumbar area associated with neurofibromatosis type 1 (NF-1). A 38-year-old woman presented with paraparesis. Magnetic resonance imaging revealed an intramedullary lesion within the lower thoracic spinal cord and conus medullaris, which was removed surgically. Pathological investigation showed anaplastic astrocytoma. This case confirms that the diagnosis criteria set by the National Institute of Health Consensus Development Conference can be useful to differentiate ependymoma from astrocytoma when making a preoperative diagnosis of intramedullary spinal cord tumor in patients of NF-1. KEY WORDS : Astrocytoma·Intramedullary cord tumor·Neurofibromatosis. Introduction eurofibromatosis type 1 (NF-1), also known as von N Recklinghausen's disease, is one of the most common autosomal dominant inherited disorders with an incidence of 1 in 3,000 individuals and is characterized by a predisposition to tumors of the nervous system5,6,12,16). Central nervous system lesions associated with NF-1 include optic nerve glioma and low-grade gliomas of the hypothalamus, cerebellum and brain stem6,10). Since the introduction of magnetic resonance(MR) imaging, Fig. 1. Photograph of the patient's back shows multiple subcutaneous incidental lesions with uncertain pathological characteristic nodules (black arrow) and a cafe-au-lait spot (white arrow), which have been a frequent finding in the brain and spinal cord of are typical of NF-1.
  • Surgical Results of the Resection of Spinal Meningioma with the Inner Layer of Dura More Than 10 Years After Surgery

    Surgical Results of the Resection of Spinal Meningioma with the Inner Layer of Dura More Than 10 Years After Surgery

    www.nature.com/scientificreports OPEN Surgical results of the resection of spinal meningioma with the inner layer of dura more than 10 years after surgery Hiroyuki Tominaga1*, Ichiro Kawamura1, Kosei Ijiri2, Kazunori Yone1 & Noboru Taniguchi1 Most spinal meningiomas arise from the thoracic dura in middle-aged and elderly women. Simpson grade 1 resection is recommended to avoid recurrence. For ventral and ventrolateral tumors, reconstruction after total dural resection is difcult, and spinal fuid leakage is likely. To overcome this concern, Saito et al. developed the technique of resecting the tumor with the inner dural layer, preserving the outer dural layer. Although meningioma rarely recurs, the recurrence period is approximately 8 years postoperatively. No studies have evaluated long-term (> 10-year) outcomes of the Saito method. Here, we report 10 cases of the Saito method with > 10-year follow-up and compare outcomes with those of other standard approaches. Twenty-nine pathology-confrmed meningioma patients underwent surgery in our department, ten with the Saito method. We investigated resection method (dura mater treatment), pathological type, and recurrence and compared pre- and postoperative clinical fndings. The median follow-up was 132 months. Recurrence occurred after Simpson grades 3 and 4 resection. Simpson grades 1, 2, and the Saito method resulted in no recurrence. Neurological symptoms improved in all patients at fnal follow-up. This is the frst report of long-term outcomes of the Saito method. The method achieved good neurological improvement with no recurrence in > 10-year follow-up. Spinal cord meningioma is an intradural, extramedullary tumor that occurs most frequently at the thoracic level in middle-aged and elderly women.
  • The WHO Grade I Collagen-Forming Meningioma Produces Angiogenic Substances

    The WHO Grade I Collagen-Forming Meningioma Produces Angiogenic Substances

    ANTICANCER RESEARCH 36: 941-950 (2016) The WHO Grade I Collagen-forming Meningioma Produces Angiogenic Substances. A New Meningioma Entity JOHANNES HAYBAECK1*, ELISABETH SMOLLE1,2*, BERNADETTE SCHÖKLER3 and REINHOLD KLEINERT1 1Department of Neuropathology, Institute of Pathology, Medical University Graz, Graz, Austria; 2Department of Internal Medicine, Division of Pulmonology, Medical University Graz, Graz, Austria; 3Department of Neurosurgery, Medical University Graz, Graz, Austria Abstract. Background: Meningiomas arise from arachnoid seems to be most appropriate. Conclusion: The "WHO Grade cap cells, the so-called meningiothelial cells. They account I collagen-forming meningioma" reported herein produces for 20-36% of all primary intracranial tumours, and arise collagen and angiogenic substances. To the best of our with an annual incidence of 1.8-13 per 100,000 knowledge, no such entity has been reported on in previous individuals/year. According to their histopathological features literature. We propose this collagen-producing meningioma meningiomas are classified either as grade I (meningiothelial, as a novel WHO grade I meningioma sub-type. fibrous/fibroblastic, transitional/mixed, psammomatous, angiomatous, microcystic, secretory and the Meningiomas arise from arachnoid cap cells, the so-called lympholasmacyterich sub-type), grade II (atypical and clear- meningiothelial cells (1-5). They account for 20-36% of all cell sub-type) or grade III (malignant or anaplastic primary intracranial tumours, and arise with an annual phenotype). Case Report: A 62-year-old female patient incidence of 1.8-13 per 100,000 individuals/year (1-5). presented to the hospital because of progressive obliviousness Meningiomas are the second most common central nervous and concentration difficulties. In the magnetic resonance system neoplasms in adults (6-9).
  • A Case of Mushroom‑Shaped Anaplastic Oligodendroglioma Resembling Meningioma and Arteriovenous Malformation: Inadequacies of Diagnostic Imaging

    A Case of Mushroom‑Shaped Anaplastic Oligodendroglioma Resembling Meningioma and Arteriovenous Malformation: Inadequacies of Diagnostic Imaging

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  • Brain Invasion in Meningioma—A Prognostic Potential Worth Exploring

    Brain Invasion in Meningioma—A Prognostic Potential Worth Exploring

    cancers Review Brain Invasion in Meningioma—A Prognostic Potential Worth Exploring Felix Behling 1,2,* , Johann-Martin Hempel 2,3 and Jens Schittenhelm 2,4 1 Department of Neurosurgery, University Hospital Tübingen, Eberhard-Karls-University Tübingen, 72076 Tübingen, Germany 2 Center for CNS Tumors, Comprehensive Cancer Center Tübingen-Stuttgart, University Hospital Tübingen, Eberhard-Karls-University Tübingen, 72076 Tübingen, Germany; [email protected] (J.-M.H.); [email protected] (J.S.) 3 Department of Diagnostic and Interventional Neuroradiology, University Hospital Tübingen, Eberhard-Karls-University Tübingen, 72076 Tübingen, Germany 4 Department of Neuropathology, University Hospital Tübingen, Eberhard-Karls-University Tübingen, 72076 Tübingen, Germany * Correspondence: [email protected] Simple Summary: Meningiomas are benign tumors of the meninges and represent the most common primary brain tumor. Most tumors can be cured by surgical excision or stabilized by radiation therapy. However, recurrent cases are difficult to treat and alternatives to surgery and radiation are lacking. Therefore, a reliable prognostic marker is important for early identification of patients at risk. The presence of infiltrative growth of meningioma cells into central nervous system tissue has been identified as a negative prognostic factor and was therefore included in the latest WHO classification for CNS tumors. Since then, the clinical impact of CNS invasion has been questioned by different retrospective studies and its removal from the WHO classification has been suggested. Citation: Behling, F.; Hempel, J.-M.; There may be several reasons for the emergence of conflicting results on this matter, which are Schittenhelm, J. Brain Invasion in discussed in this review together with the potential and future perspectives of the role of CNS Meningioma—A Prognostic Potential invasion in meningiomas.
  • Cutaneous Neurofibromas: Clinical Definitions Current Treatment Is Limited to Surgical Removal Or Physical Or Descriptors Destruction

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  • Meningioma ACKNOWLEDGEMENTS

    AMERICAN BRAIN TUMOR ASSOCIATION Meningioma ACKNOWLEDGEMENTS ABOUT THE AMERICAN BRAIN TUMOR ASSOCIATION Meningioma Founded in 1973, the American Brain Tumor Association (ABTA) was the first national nonprofit advocacy organization dedicated solely to brain tumor research. For nearly 45 years, the ABTA has been providing comprehensive resources that support the complex needs of brain tumor patients and caregivers, as well as the critical funding of research in the pursuit of breakthroughs in brain tumor diagnosis, treatment and care. To learn more about the ABTA, visit www.abta.org. We gratefully acknowledge Santosh Kesari, MD, PhD, FANA, FAAN chair of department of translational neuro- oncology and neurotherapeutics, and Marlon Saria, MSN, RN, AOCNS®, FAAN clinical nurse specialist, John Wayne Cancer Institute at Providence Saint John’s Health Center, Santa Monica, CA; and Albert Lai, MD, PhD, assistant clinical professor, Adult Brain Tumors, UCLA Neuro-Oncology Program, for their review of this edition of this publication. This publication is not intended as a substitute for professional medical advice and does not provide advice on treatments or conditions for individual patients. All health and treatment decisions must be made in consultation with your physician(s), utilizing your specific medical information. Inclusion in this publication is not a recommendation of any product, treatment, physician or hospital. COPYRIGHT © 2017 ABTA REPRODUCTION WITHOUT PRIOR WRITTEN PERMISSION IS PROHIBITED AMERICAN BRAIN TUMOR ASSOCIATION Meningioma INTRODUCTION Although meningiomas are considered a type of primary brain tumor, they do not grow from brain tissue itself, but instead arise from the meninges, three thin layers of tissue covering the brain and spinal cord.