Mutation of the PTEN tumor suppressor gene in endometrial hyperplasias.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Maxwell, GL; Risinger, JI; Gumbs, C; Shaw, H; Bentley, RC; Barrett, JC; Berchuck, A; Futreal, PA

Published Date

  • June 15, 1998

Published In

Volume / Issue

  • 58 / 12

Start / End Page

  • 2500 - 2503

PubMed ID

  • 9635567

International Standard Serial Number (ISSN)

  • 0008-5472


  • eng

Conference Location

  • United States