Journal of Clinical Pathology 2009;62:777-785
DEMYSTIFIED
Molecular pathology of endometrial carcinoma: practical aspects from the diagnostic and therapeutic viewpoints
Department of Pathology and Molecular Genetics and Research Laboratory, Hospital Universitari Arnau de Vilanova, University of Lleida, Irblleida, Spain
Correspondence to Professor X Matias-Guiu, Department of Pathology and Molecular Genetics, Hospital Universitari Arnau de Vilanova, Av Alcalde Rovira Roure 80, 25198 Lleida, Spain; xmatias{at}arnau.scs.es
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 β-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.
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