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Neurofibromatosis, type 2(NF2)

MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Synonyms: Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Central Neurofibromatosis; Familial Acoustic Neuromas; Neurofibromatosis 2; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; NF2; Schwannoma, Acoustic, Bilateral
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: BANF - Bilateral acoustic neurofibromatosis (92503002); Neurofibromatosis type 2 (92503002); Neurofibromatosis, type 2 (92503002); Bilateral acoustic neurofibromatosis (92503002); Familial vestibular schwannoma (700060008); Neurofibromatosis, central type (700060008); Bilateral acoustic neurofibromatosis (700060008); NF2 (700060008); Familial acoustic neuroma (700060008); Neurofibromatosis 2 (700060008)
 
Gene: NF2
Cytogenetic location: 22q12.2
OMIM: 101000

Disease characteristics

Excerpted from the GeneReview: Neurofibromatosis 2
Neurofibromatosis 2 (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, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
D Gareth Evans   view full author information

Additional descriptions

From OMIM
The central or type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosis type II is 1 in 25,000 live births (Asthagiri et al., 2009). NF2 has few of the hallmarks of the peripheral or type I form of neurofibromatosis (NF1; 162200), also known as von Recklinghausen disease. Asthagiri et al. (2009) provided a detailed review of neurofibromatosis type II.  http://www.omim.org/entry/101000
From GHR
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 or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found 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. In most cases, these tumors occur in both ears 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.  http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2

Clinical features

Meningioma
MedGen UID:
505374
Concept ID:
CN002583
Finding
The presence of a `meningioma` (MPATH:251), i.e., a benign tumor originating from the `dura mater` (FMA:9592) or `arachnoid mater` (FMA:9591).
Ependymoma
MedGen UID:
505390
Concept ID:
CN002611
Finding
The presence of an `ependymoma` (MPATH:247) of the `central nervous system` (FMA:55675).
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A `neoplasm` (MPATH:218) of the `skin` (FMA:7163).
Bilateral vestibular Schwannoma
MedGen UID:
428984
Concept ID:
CN008454
Finding
A bilateral vestibular Schwannoma (acoustic neurinoma).
Astrocytoma
MedGen UID:
506296
Concept ID:
CN008457
Finding
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` (HP:0009733).
Peripheral Schwannoma
MedGen UID:
429402
Concept ID:
CN008458
Finding
The presence of a `peripheral` (PATO:0002107) `schwannoma` (MPATH:438).
Occasional neurofibromas
MedGen UID:
506297
Concept ID:
CN008460
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Glioma
MedGen UID:
506305
Concept ID:
CN008593
Finding
The presence of a `glioma` (MPATH:249), which is a `neoplasm` (MPATH:218) of the `central nervous system` (FMA:55675) originating from a glial cell (astrocytes or oligodendrocytes).
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Visual impairment
MedGen UID:
504469
Concept ID:
CN000473
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Epiretinal membrane
MedGen UID:
451409
Concept ID:
CN116913
Finding
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.
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Finding
Tinnitus is often described as a ringing in the ears. It also can sound like roaring, clicking, hissing, or buzzing. It may be soft or loud, high pitched or low pitched. You might hear it in either one or both ears. Millions of Americans have tinnitus. People with severe tinnitus may have trouble hearing, working or even sleeping. Causes of tinnitus include: -Hearing loss in older people. -Exposure to loud noises. -Ear and sinus infections. -Heart or blood vessel problems. -Meniere's disease. -Brain tumors. -Hormonal changes in women. -Thyroid problems. -Certain medicines. Treatment depends on the cause. Treatments may include hearing aids, sound-masking devices, medicines, and ways to learn how to cope with the noise. NIH: National Institute on Deafness and Other Communication Disorders .
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).
Vertigo
MedGen UID:
500924
Concept ID:
CN002108
Finding
An abnormal sensation of spinning while the body is actually stationary.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
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- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Migraine
MedGen UID:
505085
Concept ID:
CN001878
Finding
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Meningioma
MedGen UID:
505374
Concept ID:
CN002583
Finding
The presence of a `meningioma` (MPATH:251), i.e., a benign tumor originating from the `dura mater` (FMA:9592) or `arachnoid mater` (FMA:9591).
Ependymoma
MedGen UID:
505390
Concept ID:
CN002611
Finding
The presence of an `ependymoma` (MPATH:247) of the `central nervous system` (FMA:55675).
Bilateral vestibular Schwannoma
MedGen UID:
428984
Concept ID:
CN008454
Finding
A bilateral vestibular Schwannoma (acoustic neurinoma).
Astrocytoma
MedGen UID:
506296
Concept ID:
CN008457
Finding
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` (HP:0009733).
Peripheral Schwannoma
MedGen UID:
429402
Concept ID:
CN008458
Finding
The presence of a `peripheral` (PATO:0002107) `schwannoma` (MPATH:438).
Occasional neurofibromas
MedGen UID:
506297
Concept ID:
CN008460
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Glioma
MedGen UID:
506305
Concept ID:
CN008593
Finding
The presence of a `glioma` (MPATH:249), which is a `neoplasm` (MPATH:218) of the `central nervous system` (FMA:55675) originating from a glial cell (astrocytes or oligodendrocytes).
Peripheral neuropathy
MedGen UID:
506330
Concept ID:
CN008687
Finding
Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A `neoplasm` (MPATH:218) of the `skin` (FMA:7163).
Peripheral Schwannoma
MedGen UID:
429402
Concept ID:
CN008458
Finding
The presence of a `peripheral` (PATO:0002107) `schwannoma` (MPATH:438).
Occasional neurofibromas
MedGen UID:
506297
Concept ID:
CN008460
Finding
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Abnormality of the retinal vasculature
MedGen UID:
446889
Concept ID:
CN007073
Finding
An arterial or venous retinal vascular anomaly.
Facial palsy
MedGen UID:
506391
Concept ID:
CN009454
Finding
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

Slusarz KM, Merker VL, Muzikansky A, Francis SA, Plotkin SR
Cancer Chemother Pharmacol 2014 Jun;73(6):1197-204. Epub 2014 Apr 8 doi: 10.1007/s00280-014-2456-2. [Epub ahead of print] PMID: 24710627
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. PMID: 23108832
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819

Diagnosis

Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Barrett VJ, Tan MH, Elston JS
J Neuroophthalmol 2012 Dec;32(4):329-31. doi: 10.1097/WNO.0b013e3182726b49. PMID: 23196945
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819
Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DG
Genet Med 2011 Jun;13(6):576-81. doi: 10.1097/GIM.0b013e318211faa9. PMID: 21451418

Therapy

Slusarz KM, Merker VL, Muzikansky A, Francis SA, Plotkin SR
Cancer Chemother Pharmacol 2014 Jun;73(6):1197-204. Epub 2014 Apr 8 doi: 10.1007/s00280-014-2456-2. [Epub ahead of print] PMID: 24710627
Petrilli A, Copik A, Posadas M, Chang LS, Welling DB, Giovannini M, Fernández-Valle C
Oncogene 2014 Jul 3;33(27):3571-82. Epub 2013 Aug 12 doi: 10.1038/onc.2013.320. [Epub ahead of print] PMID: 23934191Free PMC Article
Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Angelo LS, Wu JY, Meng F, Sun M, Kopetz S, McCutcheon IE, Slopis JM, Kurzrock R
Mol Cancer Ther 2011 Nov;10(11):2094-103. Epub 2011 Sep 8 doi: 10.1158/1535-7163.MCT-11-0243. [Epub ahead of print] PMID: 21903608
Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd
Otol Neurotol 2010 Sep;31(7):1135-43. doi: 10.1097/MAO.0b013e3181eb328a. PMID: 20736812Free PMC Article

Prognosis

Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. [Epub ahead of print] PMID: 23817811
Monteiro TA, Goffi-Gomez MV, Tsuji RK, Gomes MQ, Brito Neto RV, Bento RF
Braz J Otorhinolaryngol 2012 Oct;78(5):128-34. PMID: 23108832
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Hoa M, Slattery WH 3rd
Otolaryngol Clin North Am 2012 Apr;45(2):315-32, viii. doi: 10.1016/j.otc.2011.12.005. PMID: 22483819
Aguilera DG, Mazewski C, Schniederjan MJ, Leong T, Boydston W, Macdonald TJ
Childs Nerv Syst 2011 May;27(5):757-64. Epub 2010 Dec 4 doi: 10.1007/s00381-010-1351-3. [Epub ahead of print] PMID: 21132433

Clinical prediction guides

Plotkin SR, Ardern-Holmes SL, Barker FG 2nd, Blakeley JO, Evans DG, Ferner RE, Hadlock TA, Halpin C; REiNS International Collaboration
Neurology 2013 Nov 19;81(21 Suppl 1):S25-32. doi: 10.1212/01.wnl.0000435746.02780.f6. PMID: 24249803Free PMC Article
Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. [Epub ahead of print] PMID: 23817811
Szudek J, Briggs R, Leung R
Curr Opin Otolaryngol Head Neck Surg 2012 Oct;20(5):347-52. doi: 10.1097/MOO.0b013e32835762a1. PMID: 22929112
Aguilera DG, Mazewski C, Schniederjan MJ, Leong T, Boydston W, Macdonald TJ
Childs Nerv Syst 2011 May;27(5):757-64. Epub 2010 Dec 4 doi: 10.1007/s00381-010-1351-3. [Epub ahead of print] PMID: 21132433
Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd
Otol Neurotol 2010 Sep;31(7):1135-43. doi: 10.1097/MAO.0b013e3181eb328a. PMID: 20736812Free PMC Article

Recent systematic reviews

Vranceanu AM, Merker VL, Park E, Plotkin SR
J Neurooncol 2013 Sep;114(3):257-62. Epub 2013 Jul 2 doi: 10.1007/s11060-013-1195-2. [Epub ahead of print] PMID: 23817811
Koontz NA, Wiens AL, Agarwal A, Hingtgen CM, Emerson RE, Mosier KM
AJR Am J Roentgenol 2013 Jun;200(6):W646-53. doi: 10.2214/AJR.12.8577. PMID: 23701098
Carlson ML, Breen JT, Driscoll CL, Link MJ, Neff BA, Gifford RH, Beatty CW
Otol Neurotol 2012 Jul;33(5):853-62. doi: 10.1097/MAO.0b013e318254fba5. PMID: 22664900
Tysome JR, Macfarlane R, Durie-Gair J, Donnelly N, Mannion R, Knight R, Harris F, Vanat ZH, Tam YC, Burton K, Hensiek A, Raymond FL, Moffat DA, Axon PR
Otol Neurotol 2012 Apr;33(3):466-72. doi: 10.1097/MAO.0b013e318248eaaa. PMID: 22334163
Plotkin SR, Halpin C, McKenna MJ, Loeffler JS, Batchelor TT, Barker FG 2nd
Otol Neurotol 2010 Sep;31(7):1135-43. doi: 10.1097/MAO.0b013e3181eb328a. PMID: 20736812Free PMC Article

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