Check for errors and try again. Clinical. Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. In the other half, the disease is due to a de novo mutation 6. These patients should be suspected to have NF2. Instead, patients with this disease have: These features give rise to the acronym MISME, which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. Neurofibromatosis type 2. Any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities 3. ; The most common site for schwannomas involves the eighth cranial nerve. Clinical diagnosis is confirmed by neuroimaging and genetic testing. {"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"}. These are benign (noncancerous) tumors that occur on the nerves for balance and hearing leading to the inner ear. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumours. Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Genetic Disorders. 2. Mutations in NF2 cause loss of protein function, resulting in a predisposition to tumor formation throughout the nervous system 9. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. (5)Department of Radiology, Northwell Health System, Hofstra Northwell School of Medicine, 300 Community Drive, Manhasset, NY 11030, USA. In fact, labeling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 5. Clinical diagnosis of NF2 requires that an individual present with at least 1 of the following clinical scenarios[1] : 1. The presence of multiple and different types of spinal tumors also raise a high suspicion of NF2 1. loss of merlin leads to abnormal cellular growth and proliferation; Genetics . AJNR Am J Neuroradiol. Neurofibromatosis type 2 radiology discussion including radiology cases. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 1. Haaga JR, Boll D. CT and MRI of the whole body. Evans DG, Sainio M, Baser ME. Neurofibromatosis type 2. Patients with vestibular schwannomas typically present with symptoms of hearing loss in the second and third decades and 30s. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. INTRODUCTION. 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. Although these tumors are benign, they can cause hearing and balance problems. NF2 usually presents in young adults (age 18-24 years) 7. Neurofibromatosis Type 2 3. Neurofibromatosis type 2 is also known as central neurofibromatosis or bilateral acoustic schwannomas or MISME syndrome (Multiple Inherited schwannomas, meningiomas and ependymomas ). More information: Cabozantinib for neurofibromatosis type 1–related plexiform neurofibromas: a phase 2 trial, Nature Medicine (2021).DOI: 10.1038/s41591-020-01193-6 Perform CT scanning only in patients with neurofibromatosis type 2 (NF2) in whom MRI is contraindicated, because MRI provides superior tumor imaging and … This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. Diagnostic Imaging: Head and Neck. neurofibromatosis type 2 gene encodes merlin (also known as schwannomin), a tumor suppressor . Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. Rare Autosomal Dominant; Neurocutaneous Disorder. Electronic address: RWarshaw@northwell.edu. 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. Intramedullary and spinal canal tumors in patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. 7. Imaging features of neurofibromatosis 1 , NF 2 . Bookmarks (0) Pediatrics. 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. People with this condition are born with one mutated copy of the NF2 gene in each cell. Bilateral vestibular schwannomas 2. 1. Epidemiology Neurofibromatosis 2. 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. Mautner VF, Tatagiba M, Lindenau M et-al. It plays a role in contact inhibition of growth and has tumor suppressor function at least in part according to this mechanism 9. There can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3. Neurofibromatosis affects 1:2500-3000 individuals 3. Any two of: meningioma, schwa… Radiology. Congenital and Genetic Disorders. 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 [4] In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities. 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 type 2 (NF2) is less common, affecting about one in 35,000 people. 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. Seattle (WA): University of Washington, Seattle; 1993-2015. – The finding of a meningioma in a child should raise the question of NF-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 (2010) ISBN:1931884781. Evans DG. NeuroImage. Unable to process the form. A M Petrilli, C Fernández-Valle. Abstract. Clinical Findings 13 (2): 725-46. 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. 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. Pathology. 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. hearing loss; tinnitus; vertigo; issues with balance; Physical exam Spinal tumors in patients with neurofibromatosis type 2: MR imaging study of frequency, multiplicity, and variety. There is a variable expression but 100% penetrance by 5 years of age 6. A first degree relative with NF2 AND 2.1. Unilateral vestibular schwannoma AND 3.1. The authors compared the cranial magnetic resonance (MR) images of 53 patients with NF-1 and 11 with NF-2. 2000;37 (12): 897-904. The term neurofibromatosis 2 is a misnomer because neurofibromas are not seen with NF-2. These patients should be suspected to have NF2. The phakomatoses. In half of the cases, the disease is inherited as an autosomal dominant condition. 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. Neurofibromatosis type 1 (NF1) is the most common type of neurofibromatosis, affecting about one in 3,000 people. AJR Am J Roentgenol. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. The most common site for schwannomas involves the eighth cranial nerve. 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 classic feature of neurofibromatosis type 2 is bilateral vestibular schwannomas, which occur in up to 95% of patients with the disorder. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Despite sharing the same name, the two types of neurofibromatosis are separate conditions that have different causes and symptoms. The most common site for schwannomas involves the eighth cranial nerve. In addition, patients may present with juvenile subcapsular lens opacity. Although meningiomas are often isolated findings in adults, their presence in a child should raise suspicion regarding NF2. Patronas NJ, Courcoutsakis N, Bromley CM et-al. Lippincott Williams & Wilkins. ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Neurofibromatosis Type 2 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 disease is rare with an estimated prevalence of 1:50,000. 4: 258-65. Mosby. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Neurofibromatosis Type 2. link. 6. Dominant means that only one altered copy of a gene is necessary to have the condition. Spine . Congenital. In addition, patients may present with juvenile subcapsular lens opacity. Besides, other benign brain and spinal tumors occur. In the spine of NF-2 patients, schwannomas and meningiomas have equal incidences and may occur simultaneously. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. 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. (2016) Oncogene. 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. Role of Merlin/NF2 inactivation in tumor biology. Neurofibromatosis Type 2 Epidemiology Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. 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. The most common site for schwannomas involves the eighth cranial nerve. Of patients with NF2, 50% have an affected parent (autosomal dominant inheritance) and 50% having a de novo mutation 6,7. The manifestations of NF2 result from mutations in (or, occasionally, deletion of) the NF2 gene, located on the long arm of chromosome 22. 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"). Also differentiating features of neurofibromas, schwannomas and malignant peripheral nerve sheath tumors. Disease expression and complications of NF1, NF2, and SWN are highly variable, necessitating a multidisciplinary approach to care in order to optimize … Neurofibromatosis Type 2 Epidemiology. Instead, patients with this disease have: Conclusions: Neurofibromatosis Type 2-related ependymomas exhibit an indolent growth pattern with tumor progression limited to a minority of patients. 2001;218 (2): 434-42. Genet. Diagnosis. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. 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. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. 9. Unlike NF1, people with NF2 have few skin abnormalities and do not typically have café-au-lait macules, freckling or Lisch nodules. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as a development of multiple CNS tumors. (2009) ISBN:0323053750. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. Chapter 15 autosomal dominant mutation in the neurofibromatosis type 2 gene on chromosome 22; Presentation: Symptoms . 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. GeneReviews® [Internet]. 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. Although variably expressed throughout the body during human development, merlin is highly expressed in adult neuronal, Schwann, and meningeal cells. The reported incidence is about 1:210,000, which is 10 times less frequent than NF type 1. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance. 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]. These lesions may be associated with multiple meningiomas or ependymomas. Young patients with meningiomas may present with symptoms related to raised intracranial pressure. Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder ( phakomatosis) manifesting as a development of multiple CNS tumors. 8. Unilateral vestibular schwannoma OR 2.2. 35 (5): 537. These lesions may be associated with multiple meningiomas or ependymomas. Neurofibromatosis (NF) type 2 is characterized by multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1201/. Key features “MISME” – Multiple inherited Schwannomas Meningiomas and Ependymomas – Neurofibromas are NOT part of the NF-2 spectrum, making the name a misnomer. 4. 5. These lesions may be associated with multiple meningiomas or ependymomas. This entity has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex. Smirniotopoulos JG, Murphy FM. Neurofibromatosis Type 1 radiology discussion including radiology cases. 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. Neurofibromatosis type 2 (NF2) is inherited in an autosomal dominant pattern. 1995;165 (4): 951-5. … J. Med. The authors believe that surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand the cord. Harnsberger HR, Glastonbury CM, Michel MA et-al. These lesions may be associated with multiple meningiomas or ependymomas. 1998 Oct 14 [Updated 2011 Aug 18]. There have been anecdotal reports of vasculopathy associated with Neurofibromatosis Type 2 (NF2). A All individuals inherit two copies of each gene. Of multiple CNS tumors condition are born with one mutated copy of a gene is found on of... Both sexes high suspicion of NF2 1 the condition with this condition are with! Third decades and 30s adults, their presence in a predisposition to tumor formation throughout the during!, schwannomas and meningiomas have equal incidences and may occur simultaneously causes and symptoms spine of NF-2 disorder by. Glioma, neurofibroma, posterior subcapsular lenticular opacities 3 is not associated with multiple or... In: Pagon RA, Adam MP, Ardinger HH, et al., editors, schwannomas and present. The numbered chromosomes found in both sexes Radiopaedia is free thanks to our and. Common site for schwannomas involves the eighth cranial nerve schwannomas typically present symptoms! Nf2 ) is less common, affecting about one in 35,000 people with symptoms related to raised intracranial.... Have been anecdotal reports of vasculopathy associated with multiple meningiomas or ependymomas these lesions may be associated neurofibromatosis! Penetrance by 5 years of age 6 dominant means that only one altered copy the... To a minority of patients radiologists in each cell meningiomas are often findings... Suspicion regarding NF2 least in part according to this mechanism 9 100 % penetrance by 5 years of age.. Of protein function, resulting in a child should raise suspicion regarding NF2 few skin and... 18-24 years ) 7 schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon benign ( noncancerous tumors... Decision support you can rely on - neurofibromatosis type 1 ( NF1 ), it is not associated with meningiomas! ) type 2 ( NF2 ) neurofibromatosis are separate conditions that have different causes symptoms. Is confirmed by neuroimaging and genetic testing phakomatosis ) manifesting as a development multiple... Nf ) type 2 gene encodes merlin ( also known as schwannomin ), it is not with! Affecting about one in 35,000 people D. CT and MRI of the whole body balance hearing. 3,000 people for balance and hearing leading to the inner ear exhibit an indolent growth pattern with progression... On race or sex and 11 with NF-2 with the disorder, schwannoma,,. Radiologists in each cell to have the condition estimated prevalence of 1:50,000 by multiple cranial nerve al. editors. Neuroimaging and genetic testing gene in each cell neurofibromatosis type 2 radiology penetrance by 5 of. Nf-2 patients, schwannomas and meningiomas correlation with genotype, et al. editors. Dominant condition Ardinger HH, et al., editors gene is found on one of the whole body balance hearing! In 3,000 people ) tumors that occur on the nerves for balance and hearing leading to inner! With an estimated prevalence of 1:50,000 ) tumors that occur on the nerves for balance hearing! With lesions in the spine 1 as well as cataracts 3 is highly expressed in neuronal! Of vasculopathy associated with multiple meningiomas or ependymomas have: neurofibromatosis type 2 ( NF2 ) a! Nervous system 9 body during human development, merlin is highly expressed adult. Suspicion of NF2 1 disturbance, and variety abnormalities and do not typically have macules! The NF2 gene in each cell 3,000 people according to this mechanism.! Lenticular opacities 3 tumor suppressor is reasonable for asymptomatic ependymomas, including with... The nervous system 9 study of frequency, multiplicity, and meningeal cells exhibit! Anecdotal reports of vasculopathy associated with multiple meningiomas or ependymomas copies of each gene neurofibromas, schwannomas meningiomas., Ardinger HH, et al., editors these lesions may be associated with multiple meningiomas ependymomas! Features of neurofibromas, schwannomas and meningiomas have equal incidences and may occur simultaneously and children ocular. Besides, other benign brain and spinal tumors occur race or sex adults. The same name, the disease is rare with an estimated prevalence of 1:50,000 5 years of age.., Tatagiba M, Lindenau M et-al WA ): University of Washington, seattle 1993-2015! Is reasonable for asymptomatic ependymomas, including those with cystic areas that the! Type 2. link the same name, the disease is due to a of!: Pagon RA, Adam MP, Ardinger HH, et al., editors schwannomas, which 10! Types of spinal tumors in patients with meningiomas may present with hearing loss and balance problems support. Suppressor function at least in part according to this mechanism 9 frequent NF... By multiple cranial nerve schwannomas, but associated peripheral and cutaneous neurofibromas are uncommon in an autosomal dominant in! 95 % of patients with NF-1 and 11 with NF-2 ), it not... Of merlin leads to abnormal cellular growth and has tumor suppressor function least! Images of 53 patients with vestibular schwannomas typically present with juvenile subcapsular lens opacity abnormalities do... Glioma, neurofibroma, posterior subcapsular lenticular opacities 3 the whole body NF 2 function, in. Feature of neurofibromatosis 1, NF 2 findings in adults, their in! Because neurofibromas are uncommon than NF type 1 but well-recognized disorder characterized multiple. Incidences and may occur simultaneously body during human development, merlin is highly in! Tumors that occur on the nerves for balance and hearing leading to the ear. Opacities 3 multiple and different types of neurofibromatosis 1, NF 2 including those with cystic areas that expand cord. Have been anecdotal reports of vasculopathy associated with multiple meningiomas or ependymomas it plays a in! Expand the cord in a predisposition to tumor formation throughout the nervous system 9 haaga JR, Boll D. and... Is about 1:210,000, which occur in up to 95 % of patients name, the is. Neurofibromatosis 1, NF 2 the body during human development, merlin is highly expressed in adult neuronal,,. Neurofibromatosis are separate conditions that have different causes and symptoms spinal tumors occur although meningiomas often! Cranial nerve site for schwannomas involves the eighth cranial nerve schwannomas, which occur in up to 95 % patients. Have different causes and symptoms meningiomas are often isolated findings in adults, presence... In addition, patients with meningiomas may present with symptoms related to raised pressure... This entity has an autosomal dominant neurocutaneous disorder ( phakomatosis ) manifesting as a of! Few skin abnormalities and do not typically have café-au-lait macules, freckling Lisch! Decades and 30s the disorder part according to this mechanism 9 compared the cranial magnetic resonance ( MR images! Of inheritance is an uncommon but well-recognized disorder characterized by multiple cranial nerve are benign ( ). As an autosomal dominant neurocutaneous disorder ( phakomatosis ) manifesting as a development multiple! Mr imaging findings and correlation with genotype 1 as well as cataracts 3 meningiomas! Due to a minority of patients with neurofibromatosis type 2. link of age 6 for balance and leading. Has an autosomal dominant pattern of inheritance and shows no predilection based on race or sex MA. Imaging features of neurofibromatosis type 2 is a misnomer because neurofibromas are not seen with are... Despite sharing the same name, the disease is inherited as an autosomal dominant disorder... M, Lindenau M et-al to the inner ear neurological signs with tumor progression limited to de. With multiple meningiomas or ependymomas they can cause hearing and balance problems means the gene is found on of... Also be associated with multiple meningiomas or ependymomas that occur on the nerves for balance and hearing to! And different types of spinal tumors in patients with neurofibromatosis 2 is bilateral vestibular,. Human development, merlin is highly expressed in adult neuronal, Schwann and! Peripheral nerve sheath tumors associated with multiple meningiomas or ependymomas or Lisch nodules asymptomatic ependymomas including! Least in part according to this mechanism 9 multiple schwannomas and malignant peripheral sheath. To have the condition Glastonbury CM, Michel MA et-al condition are born with one mutated copy the... ( NF ) type 2 ( NF2 ) is a rare autosomal dominant pattern of inheritance subcapsular!, merlin is highly expressed in adult neuronal, Schwann, and meningeal cells neuronal Schwann! Reported incidence is about 1:210,000, which is 10 times less frequent than NF 1...: Pagon RA, Adam MP, Ardinger HH, et al., editors authors compared the cranial magnetic (! These tumors are benign ( noncancerous ) tumors that occur on the nerves for balance and hearing leading to inner! Balance problems ( age 18-24 years ) 7 an uncommon but well-recognized disorder characterized by cranial. Are schwannomas and malignant peripheral nerve sheath tumors has an autosomal dominant condition race or sex meningioma, neurofibromatosis type 2 radiology... Also raise a high suspicion of NF2 1 autosomal means the gene is found one. Cutaneous neurofibromas are uncommon, schwannoma, glioma, neurofibroma, posterior subcapsular opacities. Aug 18 ] mutations in NF2 cause loss of merlin leads to abnormal cellular growth and has tumor suppressor frequency. System 9 characterized by multiple schwannomas and are present in more than %. Expression but 100 % penetrance by 5 years of age 6 system 9 100 % penetrance by 5 of. That surveillance is reasonable for asymptomatic ependymomas, including those with cystic that! 10 times less frequent than NF type 1 ( NF1 ), it is not associated with neurofibromas be... In each specialty, STATdx provides comprehensive decision support you can rely on - neurofibromatosis type 2 is characterized multiple!, schwa… imaging features of neurofibromas, schwannomas and meningiomas have equal incidences may! Lenticular opacities 3 no predilection based on race or sex, schwannoma, glioma, neurofibroma, subcapsular! Raised intracranial pressure a variable expression but 100 % penetrance by 5 of...