title: Allelic status of 1p, 14q, and 22q and NF2 gene mutations in sporadic schwannomas.
abstract: Schwannomas are common benign tumours of schwann cell origin, frequently found in patients with neurofibromatosis type 2 (NF2). Inactivation of the NF2 tumour suppressor gene appears to be a molecular event responsible for the development of up to 60% of cases, but no data are available on other superimposed secondary or alternative molecular abnormalities in those schwannomas lacking NF2 gene inactivation. We analysed 23 sporadic schwannomas for mutations in the NF2 gene and for the allelic status at 1p, 14q and 22q, as alterations of these genomic regions appear to be related to tumour progression in meningiomas, another NF2-associated neoplasm. Nine samples displayed allelic losses for markers on chromosome 22, and deletions at 1p were detected in two. No case showed losses for 14q. Three tumours displayed NF2 gene mutations, at exons 2, 7 and 12. Our results confirm that inactivation of the NF2 gene is a primary event in schwannoma development, and provide data suggesting that allelic loss at 1p may contribute to the pathogenesis of a small subgroup of this histological tumour type.
authors.affiliation: Instituto de Investigaciones Biomedicas (CSIC), Madrid, Spain.
authors.forename: P E
authors.initials: PE
authors.lastname: Leone
authors.forename: M J
authors.initials: MJ
authors.lastname: Bello
authors.forename: M
authors.initials: M
authors.lastname: Mendiola
authors.forename: M E
authors.initials: ME
authors.lastname: Kusak
authors.forename: J M
authors.initials: JM
authors.lastname: De Campos
authors.forename: J
authors.initials: J
authors.lastname: Vaquero
authors.forename: J L
authors.initials: JL
authors.lastname: Sarasa
authors.forename: A
authors.initials: A
authors.lastname: Pestana
authors.forename: J A
authors.initials: JA
authors.lastname: Rey
mesh_terms: D000483:Alleles; D002878:Chromosomes, Human, Pair 1; D002883:Chromosomes, Human, Pair 14; D002892:Chromosomes, Human, Pair 22; D004252:DNA Mutational Analysis; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D009154:Mutation; D009442:Neurilemmoma / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers