Somatic Instability of the NF2 Gene in Schwannomatosis
- 1 September 2003
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Neurology
- Vol. 60 (9) , 1317-1320
- https://doi.org/10.1001/archneur.60.9.1317
Abstract
Context Schwannomatosis is a newly described form of neurofibromatosis of unclear pathogenesis. Patient and Methods We studied the NF2 locus on chromosome 22 in 7 tumor specimens resected from a 36-year-old man with schwannomatosis of the right ulnar nerve. Results Unrelated truncating NF2 gene mutations were detected in 4 tumor specimens. None of the NF2 mutations were present in the blood specimen. Loss of heterozygosity at the NF2 locus was seen in all tumors, and in every case the same allele was lost. Loss of distal chromosome 22 markers was variable. Fluorescence in situ hybridization results were consistent with monosomy 22 in 4 tumors and mitotic recombination or nondisjunction in 1. Conclusions Molecular analysis of tumor specimens distinguishes schwannomatosis from other forms of neurofibromatosis. Further work is needed to understand the natural history and molecular biology of this condition.Keywords
This publication has 15 references indexed in Scilit:
- The Neurofibromatosis Type 2 Gene Product, merlin, Reverses the F-Actin Cytoskeletal Defects in Primary Human Schwannoma CellsMolecular and Cellular Biology, 2002
- Aggressive Phenotypic and Genotypic Features in Pediatric and NF2-Associated Meningiomas: A Clinicopathologic Study of 53 CasesJournal of Neuropathology and Experimental Neurology, 2001
- Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomasNeurology, 2000
- A group of schwannomas with interstitial deletions on 22q located outside the NF2 locus shows no detectable mutations in the NF2 geneHuman Genetics, 1999
- Molecular Analysis of the NF2 Tumor-Suppressor Gene in SchwannomatosisAmerican Journal of Human Genetics, 1997
- Frequency and distribution ofNF2 mutations in schwannomasGenes, Chromosomes and Cancer, 1996
- Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomasHuman Genetics, 1996
- SchwannomatosisNeurology, 1996
- Analysis of mutations in the SCH gene in schwannomasGenes, Chromosomes and Cancer, 1994
- Exon scanning for mutation of the NF2 gene in schwannomasHuman Molecular Genetics, 1994