Molecular pathology of endometrial carcinoma: practical aspects from the diagnostic and therapeutic viewpoints

J Clin Pathol. 2009 Sep;62(9):777-85. doi: 10.1136/jcp.2008.056101. Epub 2008 Oct 31.

Abstract

This article reviews the main molecular alterations involved in endometrial carcinoma. Five molecular features (microsatellite instability, and mutations in the PTEN, k-RAS, PIK3CA and beta-catenin genes) are characteristic of endometrioid carcinomas, whereas non-endometrioid carcinomas show alterations of p53, loss of heterozygosity (LOH) on several chromosomes, as well as other molecular alterations (STK15, p16, E-cadherin and C-erb B2). The review also covers the phenomenon of apoptosis resistance, as well as the results obtained from cDNA array studies, and the perspectives for targeted therapies. A group of practical applications of molecular pathology techniques are also mentioned: diagnosis of hereditary non-polyposis colon cancer syndrome in patients with endometrial carcinoma; evaluation of precursor lesions; prognosis; diagnosis, particularly for synchronous endometrioid carcinomas of the uterus and the ovaries; and targeted therapies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Apoptosis / genetics
  • Endometrial Neoplasms / diagnosis
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / therapy
  • Female
  • Genetic Therapy / methods
  • Humans
  • Microsatellite Instability
  • Mutation
  • Oligonucleotide Array Sequence Analysis / methods