title: Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias.
abstract: Mutation and deletion of the PTEN tumor suppressor gene occurs in about 40% of endometrial carcinomas. The purpose of this study was to determine whether PTEN mutations also are present in endometrial hyperplasias, which are premalignant precursors of invasive endometrial adenocarcinomas. Genomic DNA from 51 endometrial hyperplasias was extracted from paraffin blocks, and PCR was used to amplify the nine exons of the PTEN gene. These products were screened using single-strand conformation analysis, and variant bands were sequenced. Somatic mutations in the PTEN gene were seen in 10 of 51 cases (20%), and two mutations were found in one case. An identical 4-bp deletion in exon 8 was seen in three cases, and 8 of 11 PTEN mutations predicted truncated protein products. There was no higher frequency of PTEN mutations in endometrial hyperplasias with atypia (6 of 32; 19%) relative to those without atypia (4 of 19; 21%). These data suggest that inactivation of the PTEN tumor suppressor gene is an early event in the development of some endometrial cancers.
authors.affiliation: Department of Obstetrics and Gynecology/Division of Gynecologic Oncology, Duke University Medical Center, Durham, North Carolina 27710, USA.
authors.forename: G L
authors.initials: GL
authors.lastname: Maxwell
authors.forename: J I
authors.initials: JI
authors.lastname: Risinger
authors.forename: C
authors.initials: C
authors.lastname: Gumbs
authors.forename: H
authors.initials: H
authors.lastname: Shaw
authors.forename: R C
authors.initials: RC
authors.lastname: Bentley
authors.forename: J C
authors.initials: JC
authors.lastname: Barrett
authors.forename: A
authors.initials: A
authors.lastname: Berchuck
authors.forename: P A
authors.initials: PA
authors.lastname: Futreal
mesh_terms: D004714:Endometrial Hyperplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases; D016133:Polymerase Chain Reaction; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D009363:Neoplasm Proteins; D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D017027:Protein Tyrosine Phosphatases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human