Patients with vestibular schwannomas typically present with symptoms of hearing loss in the second and third decades and 30s. Evans DG, Sainio M, Baser ME. Although meningiomas are often isolated findings in adults, their presence in a child should raise suspicion regarding NF2. Besides, other benign brain and spinal tumors occur. (2009) ISBN:0323053750. A M Petrilli, C Fernández-Valle. Page 2 of 31 Learning objectives • Provide background information about neurofibromatosis type 2 (NF2) including genetics, mode of inheritance, clinical features and natural history • Become familiar with the criteria used to make the diagnosis and the role of imaging in the diagnosis Unilateral vestibular schwannoma AND 3.1. Unlike NF1, people with NF2 have few skin abnormalities and do not typically have café-au-lait macules, freckling or Lisch nodules. These lesions may be associated with multiple meningiomas or ependymomas. Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Unable to process the form. Seattle (WA): University of Washington, Seattle; 1993-2015. Schwannomas can involve other cranial nerves, most frequently III and V. 2 As such, the most common presenting clinical symptoms include hearing loss, dizziness, headaches, diplopia, and facial weakness. In about half of cases, the altered gene is inherited from an affected parent.The remaining cases result from new mutations in the NF2 gene and occur in people with no history of the disorder in their family. What is neurofibromatosis type 2?Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas. Neurofibromatosis affects 1:2500-3000 individuals 3. Neurofibromatosis type 2 (NF2) is a dominantly inherited syndrome that predisposes individuals to multiple tumors of the nervous system [].The most common of these are bilateral vestibular schwannomas; intracranial and spinal meningiomas and spine tumors, including intrinsic ependymomas, are also a prominent component of this condition. Imaging features of neurofibromatosis 1 , NF 2 . NeuroImage. Clinical. ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. The term neurofibromatosis 2 is a misnomer because neurofibromas are not seen with NF-2. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Neurofibromatosis type 2. Abstract. Instead, patients with this disease have: These features give rise to the acronym MISME, which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. INTRODUCTION. Bilateral vestibular schwannomas 2. Neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN) are three clinically distinct tumor predisposition syndromes with a shared tendency to develop peripheral and central nervous system neoplasms. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. neurofibromatosis type 2 gene encodes merlin (also known as schwannomin), a tumor suppressor . Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios[1] : 1. Given the increasing use of bevacizumab, a vascular endothelial growth factor inhibitor which results in an increased risk of bleeding, it is important to ascertain if there is a predisposition to vascular abnormalities in NF2. The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1201/. The disease is rare with an estimated prevalence of 1:50,000. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. Mutations in NF2 cause loss of protein function, resulting in a predisposition to tumor formation throughout the nervous system 9. Any two of: meningioma, schwa… In the spine of NF-2 patients, schwannomas and meningiomas have equal incidences and may occur simultaneously. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. In fact, labeling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 5. Mautner VF, Tatagiba M, Lindenau M et-al. Neurofibromatosis 1 (NF-1) (von Rekhlinghausen disease) and neurofibromatosis 2 (NF-2) (bilateral acoustic neurofibromatosis) have been recently recognized to be distinct disorders through genetic linkages. Purpose: To develop a three-dimensional (3D) segmentation and computerized volumetry technique for use in the assessment of neurofibromatosis and to assess the ability of this technique to aid in the calculation of tumor burden in patients with neurofibromatosis types 1 and 2 (NF1 and NF2, respectively) and schwannomatosis detected with whole-body magnetic resonance (MR) imaging. The presence of multiple and different types of spinal tumors also raise a high suspicion of NF2 1. The most common tumour associated with the syndrome is the vestibulo-cochlear (cranial nerve VIII) schwannoma, and as many as 10% of patients with this tumour have NF2 [1, 2]. Neurofibromatosis Type 2 Epidemiology. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 1. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. The most common site for schwannomas involves the eighth cranial nerve. In the other half, the disease is due to a de novo mutation 6. It plays a role in contact inhibition of growth and has tumor suppressor function at least in part according to this mechanism 9. In addition, patients may present with juvenile subcapsular lens opacity. Dominant means that only one altered copy of a gene is necessary to have the condition. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. Patronas NJ, Courcoutsakis N, Bromley CM et-al. These patients should be suspected to have NF2. Of patients with NF2, 50% have an affected parent (autosomal dominant inheritance) and 50% having a de novo mutation 6,7. More information: Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial, Nature Medicine (2021).DOI: 10.1038/s41591-020-01193-6 hearing loss; tinnitus; vertigo; issues with balance; Physical exam Genet. Diagnostic Imaging: Head and Neck. 1995;165 (4): 951-5. Mosby. Although variably expressed throughout the body during human development, merlin is highly expressed in adult neuronal, Schwann, and meningeal cells. This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. Neurofibromatosis type 2 (NF2) is less common, affecting about one in 35,000 people. Please refer articles on individual lesions for respective specific imaging features: Bilateral vestibular schwannomas are diagnostic of NF2 7 but care should be taken because bilateral internal acoustic meatus masses are not specific for vestibular schwannoma and can represent, for example, sarcoid or metastases 6. The authors believe that surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand the cord. Congenital and Genetic Disorders. NF2 usually presents in young adults (age 18-24 years) 7. A first degree relative with NF2 AND 2.1. Bookmarks (0) Pediatrics. Vargas WS, Heier LA, Rodriguez F, Bergner A, Yohay K. Incidental parenchymal magnetic resonance imaging findings in the brains of patients with neurofibromatosis type 2. There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). 9. 2000;37 (12): 897-904. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Neurofibromatosis Type 2 Epidemiology Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. AJNR Am J Neuroradiol. AJR Am J Roentgenol. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. The most common site for schwannomas involves the eighth cranial nerve. GeneReviews® [Internet]. 6. autosomal dominant mutation in the neurofibromatosis type 2 gene on chromosome 22; Presentation: Symptoms . Genetic Disorders. [4] In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities. (2016) Oncogene. These lesions may be associated with multiple meningiomas or ependymomas. central nervous system manifestations of NF1, Sturge-Weber syndrome (encephalotrigeminal angiomatosis), basal cell nevus syndrome (Gorlin-Goltz syndrome), progressive facial hemiatrophy (Parry-Romberg syndrome), usually an inferior vestibular division of cranial nerve eight. Patients with vestibular schwannomas typically present with symptoms of hearing loss in the second and third decades and 30s. Neurofibromatosis Type 1 radiology discussion including radiology cases. The NF2 gene is located on the long arm of chromosome 22 (22q12) and encodes the merlin protein (also known as "schwannomin"). 5. Neurofibromatosis 2. Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant pattern. Unilateral vestibular schwannoma OR 2.2. Neurofibromatosis type 2. Despite sharing the same name, the two types of neurofibromatosis are separate conditions that have different causes and symptoms. 3. Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities 3. 2001;218 (2): 434-42. Harnsberger HR, Glastonbury CM, Michel MA et-al. 8. {"url":"/signup-modal-props.json?lang=us\u0026email="}, {"containerId":"expandableQuestionsContainer","displayRelatedArticles":true,"displayNextQuestion":true,"displaySkipQuestion":true,"articleId":4967,"mcqUrl":"https://radiopaedia.org/articles/neurofibromatosis-type-2-3/questions/1714?lang=us"}. Perform CT scanning only in patients with neurofibromatosis type 2 (NF2) in whom MRI is contraindicated, because MRI provides superior tumor imaging and … There is a variable expression but 100% penetrance by 5 years of age 6. Pathology. Chapter 15 Spine . Click to share on Twitter (Opens in new window), Click to share on Facebook (Opens in new window), Click to share on Google+ (Opens in new window), Squamous Cell Carcinoma of the Palatine (Faucial) Tonsil. loss of merlin leads to abnormal cellular growth and proliferation; Genetics . There can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder ( phakomatosis) manifesting as a development of multiple CNS tumors. In addition, patients may present with juvenile subcapsular lens opacity. Also differentiating features of neurofibromas, schwannomas and malignant peripheral nerve sheath tumors. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Rare Autosomal Dominant; Neurocutaneous Disorder. The most common type of spinal nerve sheath tumors associated with NF-2 are schwannomas and are present in more than 80% of patients. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. – The finding of a meningioma in a child should raise the question of NF-2. 4. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Congenital. This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize … Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition which may be inherited or may arise spontaneously. Check for errors and try again. … 35 (5): 537. Clinical Findings 1. ; The most common site for schwannomas involves the eighth cranial nerve. The phakomatoses. Radiology. The manifestations of NF2 result from mutations in (or, occasionally, deletion of) the NF2 gene, located on the long arm of chromosome 22. Haaga JR, Boll D. CT and MRI of the whole body. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 1. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear. Epidemiology Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Neurofibromatosis Type 2. link. The most common site for schwannomas involves the eighth cranial nerve. Although these tumors are benign, they can cause hearing and balance problems. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. Neurofibromatosis Type 2 These lesions may be associated with multiple meningiomas or ependymomas. 13 (2): 725-46. (2010) ISBN:1931884781. These patients should be suspected to have NF2. Neurofibromatosis type 2 radiology discussion including radiology cases. A All individuals inherit two copies of each gene. Key features “MISME” – Multiple inherited Schwannomas Meningiomas and Ependymomas – Neurofibromas are NOT part of the NF-2 spectrum, making the name a misnomer. Conclusions: Neurofibromatosis Type 2-related ependymomas exhibit an indolent growth pattern with tumor progression limited to a minority of patients. Here we report the case of a 30-year-old woman with a history of neurofibromatosis type 2 (NF2) who presented with an incidentally discovered pelvic mass on an ultrasound. 1998 Oct 14 [Updated 2011 Aug 18]. Instead, patients with this disease have: These lesions may be associated with multiple meningiomas or ependymomas. Neurofibromatosis Type 2 Etiology: mutations in NF2 gene result in predisposition to tumor formation throughout nervous system Imaging: multiple cranial nerve schwannomas (vestibular schwannoma most common), meningiomas, spinal ependymomas, spinal nerve scwannomas Clinical: lack of skin stigmata of neurofibromatosis type 1 Neurofibromatosis type 2 is also known as central neurofibromatosis or bilateral acoustic schwannomas or MISME syndrome (Multiple Inherited schwannomas, meningiomas and ependymomas ). J. Med. People with this condition are born with one mutated copy of the NF2 gene in each cell. 7. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Smirniotopoulos JG, Murphy FM. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. 2. Diagnosis. Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, affecting about one in 3,000 people. Neurofibromatosis type 2 (NF2) is sometimes more difficult to diagnose, since most of the features of this disorder may require imaging by CT or MRI scan to detect. Neurofibromatosis Type II, AKA NF2 is inherited as an autosomal dominant condition, although half of affected individuals have NF2 as a result of a new (de novo) gene mutation. Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumors. 4: 258-65. Lippincott Williams & Wilkins. The classic feature of neurofibromatosis type 2 is bilateral vestibular schwannomas, which occur in up to 95% of patients with the disorder. Role of Merlin/NF2 inactivation in tumor biology. The authors compared the cranial magnetic resonance (MR) images of 53 patients with NF-1 and 11 with NF-2. 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