Somatic instability of the NF2 gene in schwannomatosis.
Arch Neurol
; 60(9): 1317-20, 2003 Sep.
Article
em En
| MEDLINE
| ID: mdl-12975302
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.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias do Sistema Nervoso Periférico
/
Nervo Ulnar
/
Genes da Neurofibromatose 2
/
Neurilemoma
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos