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Neurofibromatosis, type 2(SWNV)

MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Synonyms: Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; SCHWANNOMATOSIS, VESTIBULAR; SWNV
SNOMED CT: BANF - Bilateral acoustic neurofibromatosis (92503002); Neurofibromatosis type 2 (92503002); Bilateral acoustic neurofibromatosis (92503002); Familial vestibular schwannoma (92503002); Neurofibromatosis, central type (92503002); Familial acoustic neuroma (92503002); Full NF2-related schwannomatosis (92503002); Nonmosaic NF2-related schwannomatosis (92503002); Full neurofibromatosis type 2 (92503002); Nonmosaic neurofibromatosis type 2 (92503002)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): NF2 (22q12.2)
 
Monarch Initiative: MONDO:0007039
OMIM®: 101000
Orphanet: ORPHA637

Disease characteristics

Excerpted from the GeneReview: NF2-Related Schwannomatosis
NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and (very rarely) low-grade astrocytomas. Because NF2 is considered an adult-onset disease, it may be underrecognized in children, in whom skin tumors and ocular findings (retinal hamartoma, thickened optic nerves, cortical wedge cataracts, third cranial nerve palsy) may be the first manifestations. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy or hand/foot drop. [from GeneReviews]
Authors:
D Gareth Evans   view full author information

Additional descriptions

From OMIM
Vestibular schwannomatosis (SWNV), also known as neurofibromatosis type II (NF2), is an autosomal dominant multiple neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors, called schwannomas, particularly affecting the vestibular nerve (usually bilaterally), but also involving cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, affecting up to 80% of affected individuals. Ependymomas are seen in 20 to 35% of affected individuals. Ocular manifestations, including cataracts, retinal hamartomas, and epiretinal membranes, are also seen (summary by Plotkin et al., 2022). Schwannoma tumors have been found to be caused by somatic mutations in the NF2 gene. For a discussion of genetic heterogeneity of schwannomatosis, see SWN1 (162091).  http://www.omim.org/entry/101000
From MedlinePlus Genetics
Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that form on the membrane that covers the brain and spinal cord (meninges) are also common in neurofibromatosis type 2. These tumors are called meningiomas. Tumors can also occur on other nerves or tissues in the brain or spinal cord in people with this condition.

The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. Less commonly, vestibular schwannomas cause facial weakness or paralysis. In most cases, these tumors occur in both ears (bilaterally) by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.  https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ependymoma
MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
The presence of an ependymoma of the central nervous system.
Headache
MedGen UID:
9149
Concept ID:
C0018681
Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Meningioma
MedGen UID:
7532
Concept ID:
C0025286
Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Optic nerve sheath meningioma
MedGen UID:
138057
Concept ID:
C0346328
Neoplastic Process
A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.
Bilateral vestibular schwannoma
MedGen UID:
209678
Concept ID:
C1136042
Neoplastic Process
A bilateral vestibular schwannoma (acoustic neurinoma).
Unilateral vestibular schwannoma
MedGen UID:
350232
Concept ID:
C1863653
Finding
A unilateral vestibular schwannoma (acoustic neurinoma).
Occasional neurofibromas
MedGen UID:
816804
Concept ID:
C3810474
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Peripheral schwannoma
MedGen UID:
869845
Concept ID:
C4024276
Neoplastic Process
The presence of a peripheral schwannoma.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Cortical cataract
MedGen UID:
82868
Concept ID:
C0271160
Acquired Abnormality
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
Preretinal fibrosis
MedGen UID:
87388
Concept ID:
C0339543
Anatomical Abnormality
An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
Juvenile posterior subcapsular lenticular opacities
MedGen UID:
354976
Concept ID:
C1863408
Finding
Retinal hamartoma
MedGen UID:
354977
Concept ID:
C1863411
Neoplastic Process
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Neurofibromatosis, type 2 in Orphanet.

Professional guidelines

PubMed

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG
Genet Med 2022 Sep;24(9):1967-1977. Epub 2022 Jun 9 doi: 10.1016/j.gim.2022.05.007. PMID: 35674741
Chukwueke UN, Wen PY
Handb Clin Neurol 2020;170:291-302. doi: 10.1016/B978-0-12-822198-3.00048-3. PMID: 32586501
Goldbrunner R, Weller M, Regis J, Lund-Johansen M, Stavrinou P, Reuss D, Evans DG, Lefranc F, Sallabanda K, Falini A, Axon P, Sterkers O, Fariselli L, Wick W, Tonn JC
Neuro Oncol 2020 Jan 11;22(1):31-45. doi: 10.1093/neuonc/noz153. PMID: 31504802Free PMC Article

Recent clinical studies

Etiology

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG
Genet Med 2022 Sep;24(9):1967-1977. Epub 2022 Jun 9 doi: 10.1016/j.gim.2022.05.007. PMID: 35674741
Jordan JT, Plotkin SR
Hematol Oncol Clin North Am 2022 Feb;36(1):253-267. Epub 2021 Oct 27 doi: 10.1016/j.hoc.2021.08.010. PMID: 34756486
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Rosser T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):96-129. doi: 10.1212/CON.0000000000000562. PMID: 29432239
Ardern-Holmes S, Fisher G, North K
J Child Neurol 2017 Jan;32(1):9-22. Epub 2016 Sep 29 doi: 10.1177/0883073816666736. PMID: 27655473

Diagnosis

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG
Genet Med 2022 Sep;24(9):1967-1977. Epub 2022 Jun 9 doi: 10.1016/j.gim.2022.05.007. PMID: 35674741
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Goldbrunner R, Weller M, Regis J, Lund-Johansen M, Stavrinou P, Reuss D, Evans DG, Lefranc F, Sallabanda K, Falini A, Axon P, Sterkers O, Fariselli L, Wick W, Tonn JC
Neuro Oncol 2020 Jan 11;22(1):31-45. doi: 10.1093/neuonc/noz153. PMID: 31504802Free PMC Article
Cimino PJ, Gutmann DH
Handb Clin Neurol 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X. PMID: 29478615
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article

Therapy

Tamura R, Toda M
Int J Mol Sci 2022 May 13;23(10) doi: 10.3390/ijms23105462. PMID: 35628268Free PMC Article
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Chukwueke UN, Wen PY
Handb Clin Neurol 2020;170:291-302. doi: 10.1016/B978-0-12-822198-3.00048-3. PMID: 32586501
Packer RJ, Fisher MJ, Cutter G, Cole-Plourde K, Korf BR
J Child Neurol 2018 Jan;33(1):82-91. doi: 10.1177/0883073817739196. PMID: 29246097
Lim SH, Ardern-Holmes S, McCowage G, de Souza P
Cancer Treat Rev 2014 Aug;40(7):857-61. Epub 2014 May 16 doi: 10.1016/j.ctrv.2014.05.004. PMID: 24877986

Prognosis

Coy S, Rashid R, Stemmer-Rachamimov A, Santagata S
Acta Neuropathol 2020 Apr;139(4):643-665. Epub 2019 Jun 4 doi: 10.1007/s00401-019-02029-5. PMID: 31161239Free PMC Article
Sofuoğlu ÖE, Abdallah A
Med Sci Monit 2018 Oct 5;24:7072-7089. doi: 10.12659/MSM.910447. PMID: 30287802Free PMC Article
Petrilli AM, Fernández-Valle C
Oncogene 2016 Feb 4;35(5):537-48. Epub 2015 Apr 20 doi: 10.1038/onc.2015.125. PMID: 25893302Free PMC Article
Evans DG
Handb Clin Neurol 2015;132:87-96. doi: 10.1016/B978-0-444-62702-5.00005-6. PMID: 26564072
Asthagiri AR, Parry DM, Butman JA, Kim HJ, Tsilou ET, Zhuang Z, Lonser RR
Lancet 2009 Jun 6;373(9679):1974-86. Epub 2009 May 22 doi: 10.1016/S0140-6736(09)60259-2. PMID: 19476995Free PMC Article

Clinical prediction guides

Wang VY, Liu TY, Fang TY, Chen YH, Huang CJ, Wang PC
Acta Otolaryngol 2022 Jan;142(1):36-42. Epub 2021 Dec 16 doi: 10.1080/00016489.2021.2012594. PMID: 34915804
Goldbrunner R, Weller M, Regis J, Lund-Johansen M, Stavrinou P, Reuss D, Evans DG, Lefranc F, Sallabanda K, Falini A, Axon P, Sterkers O, Fariselli L, Wick W, Tonn JC
Neuro Oncol 2020 Jan 11;22(1):31-45. doi: 10.1093/neuonc/noz153. PMID: 31504802Free PMC Article
Halliday D, Parry A, Evans DG
Curr Opin Oncol 2019 Nov;31(6):562-567. doi: 10.1097/CCO.0000000000000579. PMID: 31425178
North HJD, Lloyd SKW
Adv Otorhinolaryngol 2018;81:93-104. Epub 2018 Apr 6 doi: 10.1159/000485526. PMID: 29794459
Tsermoulas G, Turel MK, Wilcox JT, Shultz D, Farb R, Zadeh G, Bernstein M
J Neurosurg 2018 May;128(5):1403-1409. Epub 2017 Jul 21 doi: 10.3171/2017.2.JNS162608. PMID: 28731398

Recent systematic reviews

Acar S, Nieblas-Bedolla E, Armstrong AE, Hirbe AC
Pediatr Neurol 2022 Sep;134:1-6. Epub 2022 Jun 10 doi: 10.1016/j.pediatrneurol.2022.06.003. PMID: 35759947
Tosi U, Maayan O, An A, Lavieri MET, Guadix SW, DeRosa AP, Christos PJ, Pannullo S, Stieg PE, Brandmaier A, Knisely JPS, Ramakrishna R
J Neurooncol 2022 Jan;156(2):431-441. Epub 2022 Jan 18 doi: 10.1007/s11060-021-03910-8. PMID: 35040021
Chung LK, Nguyen TP, Sheppard JP, Lagman C, Tenn S, Lee P, Kaprealian T, Chin R, Gopen Q, Yang I
World Neurosurg 2018 Jan;109:47-58. Epub 2017 Sep 4 doi: 10.1016/j.wneu.2017.08.159. PMID: 28882713
Lloyd SKW, King AT, Rutherford SA, Hammerbeck-Ward CL, Freeman SRM, Mawman DJ, O'Driscoll M, Evans DG
Clin Otolaryngol 2017 Dec;42(6):1329-1337. Epub 2017 Apr 26 doi: 10.1111/coa.12882. PMID: 28371358
Merkus P, Di Lella F, Di Trapani G, Pasanisi E, Beltrame MA, Zanetti D, Negri M, Sanna M
Eur Arch Otorhinolaryngol 2014 Jan;271(1):3-13. Epub 2013 Feb 13 doi: 10.1007/s00405-013-2378-3. PMID: 23404468

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