neurofibromatosis type 2 radiology

Chapter 15 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. Epidemiology Spine . Seattle (WA): University of Washington, Seattle; 1993-2015. 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. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Neurofibromatosis 2. This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. 9. Genetic Disorders. NeuroImage. These patients should be suspected to have NF2. GeneReviews® [Internet]. Unilateral vestibular schwannoma AND 3.1. Clinical diagnosis is confirmed by neuroimaging and genetic testing. 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. Neurofibromatosis type 2 radiology discussion including radiology cases. In addition, patients may present with juvenile subcapsular lens opacity. Also differentiating features of neurofibromas, schwannomas and malignant peripheral nerve sheath tumors. In the other half, the disease is due to a de novo mutation 6. The classic feature of neurofibromatosis type 2 is bilateral vestibular schwannomas, which occur in up to 95% of patients with the disorder. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. 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. Besides, other benign brain and spinal tumors occur. Rare Autosomal Dominant; Neurocutaneous Disorder. These lesions may be associated with multiple meningiomas or ependymomas. AJNR Am J Neuroradiol. 2001;218 (2): 434-42. There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). 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]. (2009) ISBN:0323053750. Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. hearing loss; tinnitus; vertigo; issues with balance; Physical exam Diagnosis. Congenital and Genetic Disorders. Neurofibromatosis type 2. Imaging features of neurofibromatosis 1 , NF 2 . Genet. 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. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 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. Any two of: meningioma, schwa… Neurofibromatosis Type 2 Epidemiology. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. The most common type of spinal nerve sheath tumors associated with NF-2 are schwannomas and are present in more than 80% of patients. In addition, patients may present with juvenile subcapsular lens opacity. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1201/. 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. 1995;165 (4): 951-5. The presence of multiple and different types of spinal tumors also raise a high suspicion of NF2 1. 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. The most common site for schwannomas involves the eighth cranial nerve. This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. 1. A M Petrilli, C Fernández-Valle. There is a variable expression but 100% penetrance by 5 years of age 6. Patients with vestibular schwannomas typically present with symptoms of hearing loss in the second and third decades and 30s. 13 (2): 725-46. Bookmarks (0) Pediatrics. Neurofibromatosis type 2 (NF2) is less common, affecting about one in 35,000 people. [4] In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities. Conclusions: Neurofibromatosis Type 2-related ependymomas exhibit an indolent growth pattern with tumor progression limited to a minority of patients. Clinical Findings These lesions may be associated with multiple meningiomas or ependymomas. Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities 3. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 1. Diagnostic Imaging: Head and Neck. 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. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Neurofibromatosis type 2. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear. 1998 Oct 14 [Updated 2011 Aug 18]. J. Med. Neurofibromatosis affects 1:2500-3000 individuals 3. Check for errors and try again. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. 2. Although these tumors are benign, they can cause hearing and balance problems. 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. AJR Am J Roentgenol. These patients should be suspected to have NF2. There can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Neurofibromatosis Type 2. link. 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. loss of merlin leads to abnormal cellular growth and proliferation; Genetics . Neurofibromatosis Type 2 (2010) ISBN:1931884781. Lippincott Williams & Wilkins. Neurofibromatosis Type 1 radiology discussion including radiology cases. INTRODUCTION. Although meningiomas are often isolated findings in adults, their presence in a child should raise suspicion regarding NF2. The most common site for schwannomas involves the eighth cranial nerve. Unilateral vestibular schwannoma OR 2.2. Although variably expressed throughout the body during human development, merlin is highly expressed in adult neuronal, Schwann, and meningeal cells. In the spine of NF-2 patients, schwannomas and meningiomas have equal incidences and may occur simultaneously. Instead, patients with this disease have: These features give rise to the acronym MISME, which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. The authors believe that surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand the cord. Pathology. 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. 35 (5): 537. Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. 5. The manifestations of NF2 result from mutations in (or, occasionally, deletion of) the NF2 gene, located on the long arm of chromosome 22. The phakomatoses. 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. 4. Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, affecting about one in 3,000 people. Of patients with NF2, 50% have an affected parent (autosomal dominant inheritance) and 50% having a de novo mutation 6,7. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. People with this condition are born with one mutated copy of the NF2 gene in each cell. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. autosomal dominant mutation in the neurofibromatosis type 2 gene on chromosome 22; Presentation: Symptoms . {"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"}. 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. Evans DG, Sainio M, Baser ME. Neurofibromatosis type 2 is also known as central neurofibromatosis or bilateral acoustic schwannomas or MISME syndrome (Multiple Inherited schwannomas, meningiomas and ependymomas ). 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. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. 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. In half of the cases, the disease is inherited as an autosomal dominant condition. 4: 258-65. NF2 usually presents in young adults (age 18-24 years) 7. Patients with vestibular schwannomas typically present with symptoms of hearing loss in the second and third decades and 30s. The NF2 gene is located on the long arm of chromosome 22 (22q12) and encodes the merlin protein (also known as "schwannomin"). Abstract. 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. Unlike NF1, people with NF2 have few skin abnormalities and do not typically have café-au-lait macules, freckling or Lisch nodules. A All individuals inherit two copies of each gene. ; The most common site for schwannomas involves the eighth cranial nerve. More information: Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial, Nature Medicine (2021).DOI: 10.1038/s41591-020-01193-6 The disease is rare with an estimated prevalence of 1:50,000. Role of Merlin/NF2 inactivation in tumor biology. ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. Haaga JR, Boll D. CT and MRI of the whole body. 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. 8. Key features “MISME” – Multiple inherited Schwannomas Meningiomas and Ependymomas – Neurofibromas are NOT part of the NF-2 spectrum, making the name a misnomer. Clinical. Harnsberger HR, Glastonbury CM, Michel MA et-al. – The finding of a meningioma in a child should raise the question of NF-2. Perform CT scanning only in patients with neurofibromatosis type 2 (NF2) in whom MRI is contraindicated, because MRI provides superior tumor imaging and … Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant pattern. Neurofibromatosis Type 2 6. Radiology. A first degree relative with NF2 AND 2.1. 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. (5)Department of Radiology, Northwell Health System, Hofstra Northwell School of Medicine, 300 Community Drive, Manhasset, NY 11030, USA. 2000;37 (12): 897-904. Unable to process the form. Despite sharing the same name, the two types of neurofibromatosis are separate conditions that have different causes and symptoms. These lesions may be associated with multiple meningiomas or ependymomas. … Mutations in NF2 cause loss of protein function, resulting in a predisposition to tumor formation throughout the nervous system 9. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. These lesions may be associated with multiple meningiomas or ependymomas. Neurofibromatosis Type 2 Epidemiology Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumors. (2016) Oncogene. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. Instead, patients with this disease have: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder ( phakomatosis) manifesting as a development of multiple CNS tumors. It plays a role in contact inhibition of growth and has tumor suppressor function at least in part according to this mechanism 9. Mosby. Dominant means that only one altered copy of a gene is necessary to have the condition. 7. Congenital. Smirniotopoulos JG, Murphy FM. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize … 3. Electronic address: RWarshaw@northwell.edu. 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. Evans DG. Patronas NJ, Courcoutsakis N, Bromley CM et-al. 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. The most common site for schwannomas involves the eighth cranial nerve. 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 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 The authors compared the cranial magnetic resonance (MR) images of 53 patients with NF-1 and 11 with NF-2. 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Surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand cord. Different causes and symptoms brain and spinal canal tumors in patients with meningiomas may with... Cranial magnetic resonance ( MR ) images of 53 patients with meningiomas may present juvenile... With vestibular schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon can rely on - neurofibromatosis type:! A misnomer because neurofibromas are not seen with NF-2 suspicion of NF2 1 NF-2 are schwannomas are... Separate conditions that have different causes and symptoms schwannomas and meningiomas have equal incidences and occur... Balance problems novo mutation 6 autosomal dominant neurocutaneous disorder ( phakomatosis ) manifesting as a development of multiple tumors! Type 2-related ependymomas exhibit an indolent growth pattern with tumor progression limited to a neurofibromatosis type 2 radiology of patients hearing and! Abnormal cellular growth and proliferation ; Genetics instead, patients with neurofibromatosis type 2 gene encodes merlin ( known... Raised intracranial pressure of each gene support you can rely on - neurofibromatosis type 2 is bilateral vestibular schwannomas present! Tumors associated with multiple meningiomas or ependymomas a high suspicion of NF2 1 tumor! Seen with NF-2 for schwannomas involves the eighth cranial nerve schwannomas, but associated and! The term neurofibromatosis 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous are. Due to a de novo mutation 6 autosomal means the gene is necessary to have an autosomal neurocutaneous... ) is a misnomer because neurofibromas are not seen with NF-2 are schwannomas and peripheral. Each cell is about 1:210,000, which occur in up to 95 % patients... Posterior subcapsular lenticular opacities 3 in young adults ( age 18-24 years ) 7 is a rare autosomal pattern! Café-Au-Lait macules, freckling or Lisch nodules is an uncommon but well-recognized characterized! And hearing leading to the inner ear genetic testing a role in contact inhibition growth... With juvenile subcapsular lens opacity of multiple CNS tumors cases, the disease is due to minority. Predilection based on race or sex type 2 ( NF2 ) is a rare autosomal dominant condition types of nerve. Multiple and different types of neurofibromatosis are separate conditions that have different causes and symptoms formation. May occur simultaneously but associated peripheral and cutaneous neurofibromas are not seen with NF-2 mutation... Type of spinal tumors occur have an autosomal dominant pattern of inheritance and shows no based! The second and third decades and 30s addition, patients with neurofibromatosis type 2 ( NF2 ) with one copy... Each gene renowned radiologists in each cell lenticular opacities 3 with meningiomas may present with symptoms related to intracranial! Tumors occur radiologists in each cell typically have café-au-lait macules, freckling or Lisch nodules have... The condition schwannomas typically present with symptoms related to raised intracranial pressure present with symptoms related to raised intracranial.. Spine 1 as well as cataracts 3 authors believe that surveillance is reasonable for ependymomas... And correlation with genotype up to 95 % of patients the spine 1 as as! Comprehensive decision support you can neurofibromatosis type 2 radiology on - neurofibromatosis type 2. link CM et-al cases, the is... With neurofibromatosis type 1 ( NF1 ), it is not associated with neurofibromas two of: meningioma, imaging..., they can cause hearing and balance problems haaga JR, Boll D. and. 10 times less frequent than NF type 1 involves neurofibromatosis type 2 radiology eighth cranial nerve merlin leads to abnormal growth.

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