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Written2006-08Lan Kluwe
Laboratory for Tumor Biology,, Developmental Disorders, University Hospital Eppendorf, Martinistr. 52, 20246 Hamburg, Germany

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Atlas_Id 10122
Genes implicated inSMARCB1  
Note A third major form of neurofibromatosis
Inheritance Up to 90% of schwannomatosis are isolated cases. An annual incidence of newly identified cases was estimated to be approximately 1 in 1,700,000. Inheritance in familial cases is autosomal dominant with incomplete penetrance.


Note Clinical spectrum of schwannomatosis has similarity to neurofibromatosis type 2 (NF2) and overlap to some extent with that of NF2. Both disorders share the predisposition to multiple schwannomas.
Phenotype and clinics
  • Critetia for definite diagnosis: two or more pathologically sampled schwannomas and lack of evidence of vestibular nerve tumor on magnetic resonance imaging performed after age 18 years.

  • Criteria for presumptive diagnosis: two or more pathologically ascertained schwannomas without symptoms of eighth nerve dysfunction at age above 30 years or two or more pathologically sampled schwannomas in an anatomically limited distribution without symptoms of eighth nerve dysfunction at any age
  • Neoplastic risk Benign schwannomas of peripheral nerve.
    Treatment Surgical resection upon indication for pain and neurological symptoms. Electromyographical or electrohpysiological monitoring can be used to minimize the risk of iatrogenic injery to the nerve or spinal cord during surgery.
    Prognosis Schwannomatosis-associated tumors are basically of benign nature. Surgical outcome depends on anatomical localization and size of the tumor. No reduction in life-span expectation.


    Inborn conditions No special feature.

    Genes involved and Proteins

    Note The genetic cause for schwannomatosis has not yet be identified. Linkage analysis has exclude the NF2 gene region and located the responsible locus to a 5 mega-basepair interval proximal to the NF2 gene on chromosome 22
    Note Though alterations of the NF2 gene have been found in schwannomatosis-associated tumors, none of them has ever been found in any non-tumor tissues such as peripheral leukocytes of the patients.
    Somatic Somatic mutations and allele loss of the NF2 gene have been found in schwannomatosis-associated schwannomas.


    Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas.
    Antinheimo J, Sankila R, Carpén O, Pukkala E, Sainio M, Jääskelä J
    Neurology. 2000 ; 54 (1) : 71-76.
    PMID 10636128
    Increasing the specificity of diagnostic criteria for schwannomatosis.
    Baser ME, Friedman JM, Evans DG
    Neurology. 2006 ; 66 (5) : 730-732.
    PMID 16534111
    Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.
    Jacoby LB, Jones D, Davis K, Kronn D, Short MP, Gusella J, MacCollin M
    American journal of human genetics. 1997 ; 61 (6) : 1293-1302.
    PMID 9399891
    Diagnostic criteria for schwannomatosis.
    MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jaramillo D, Lev M, Mautner VF, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES
    Neurology. 2005 ; 64 (11) : 1838-1845.
    PMID 15955931
    Multiple schwannomas: schwannomatosis or neurofibromatosis type 2?
    Seppälä MT, Sainio MA, Haltia MJ, Kinnunen JJ, Setälä KH, Jääskelä JE
    Journal of neurosurgery. 1998 ; 89 (1) : 36-41.
    PMID 9647170


    This paper should be referenced as such :
    Kluwe, L
    Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):59-60.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    External links

    OrphanetNeurofibromatosis type 3
    Other databaseSchwannomatosis (GARD)
    Genes implicated inSMARCB1   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
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