Schwannomatosis

2006-08-01   Lan Kluwe 

Laboratory for Tumor Biology,, Developmental Disorders, University Hospital Eppendorf, Martinistr. 52, 20246 Hamburg, Germany

Identity

Name

Schwannomatosis

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.

Omim

162091

Mesh

C536641

Orphanet

93921 Neurofibromatosis type 3

Umls

C0917817;C1335929

Clinics

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.

    Cytogenetics

    Inborn condition

    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

    Somatic

    Somatic mutations and allele loss of the NF2 gene have been found in schwannomatosis-associated schwannomas.

    Bibliography

    Pubmed IDLast YearTitleAuthors
    106361282000Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas.Antinheimo J et al
    165341112006Increasing the specificity of diagnostic criteria for schwannomatosis.Baser ME et al
    93998911997Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis.Jacoby LB et al
    159559312005Diagnostic criteria for schwannomatosis.MacCollin M et al
    96471701998Multiple schwannomas: schwannomatosis or neurofibromatosis type 2?Seppälä MT et al

    External Links