title: PTEN gene mutations are seen in high-grade but not in low-grade gliomas.
abstract: The PTEN gene, located on 10q23, has recently been implicated as a candidate tumor suppressor gene in brain, breast and prostate tumors. In the present study, 123 brain tumors, including various grades and histological types of gliomas occurring in children and adults, were analyzed for PTEN mutations by SSCP assay and sequencing. Mutations in the PTEN gene were found in 13 of 42 adult glioblastomas and 3 of 13 adult anaplastic astrocytomas, whereas none of the 21 low-grade adult gliomas or the 22 childhood gliomas of all grades showed mutations. The single medulloblastoma with a mutation was a recurrent tumor that also possessed a p53 mutation. High-grade adult gliomas with PTEN mutations included cases that also contained gene amplification or p53 gene mutations, as well as cases that did not contain either of these abnormalities. There was no obvious relationship between presence of PTEN mutation and survival; however, there was a tendency for PTEN mutations to occur in older age group patients. This analysis suggest that PTEN gene mutations are restricted to high-grade adult gliomas and that this abnormality is independent of the presence or absence of gene amplification or p53 gene mutation in these tumors.
authors.affiliation: Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: B K
authors.initials: BK
authors.lastname: Rasheed
authors.forename: T T
authors.initials: TT
authors.lastname: Stenzel
authors.forename: R E
authors.initials: RE
authors.lastname: McLendon
authors.forename: R
authors.initials: R
authors.lastname: Parsons
authors.forename: A H
authors.initials: AH
authors.lastname: Friedman
authors.forename: H S
authors.initials: HS
authors.lastname: Friedman
authors.forename: D D
authors.initials: DD
authors.lastname: Bigner
authors.forename: S H
authors.initials: SH
authors.lastname: Bigner
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D018450:Disease Progression; D005260:Female; D016147:Genes, Tumor Suppressor; D016158:Genes, p53; D005910:Glioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008527:Medulloblastoma / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D004273:DNA, Neoplasm