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Molecular pathology of endometrial carcinoma: practical aspects from the diagnostic and therapeutic viewpoints
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  1. D Llobet,
  2. J Pallares,
  3. A Yeramian,
  4. M Santacana,
  5. N Eritja,
  6. A Velasco,
  7. X Dolcet,
  8. X Matias-Guiu
  1. Department of Pathology and Molecular Genetics and Research Laboratory, Hospital Universitari Arnau de Vilanova, University of Lleida, Irblleida, Spain
  1. 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

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 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.

https://doi.org/10.1136/jcp.2008.056101

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    Footnotes

    • Funding Supported by grants FISPI060577, FISPI070304, FISPI070276, SAF2002-10529-E, Marató de TV3 2005-47, 2004XT00090 and RD06/0020/1034. XD holds a postdoctoral fellowship from the Fondo de Investigaciones Sanitarias, Ministerio de Sanidad y Consumo (CP05/00028). DL holds a predoctoral fellowship from the Fondo de Investigaciones Sanitarias, Ministerio de Sanidad y Consumo (FI05/00191). NE holds a predoctoral fellowship from the Fondo de Investigaciones Sanitarias, Ministerio de Sanidad y Consumo (FI08/00012) and Fundació Alicia Cuello de Merigó.

    • Competing interests None.

    • Ethics approval Ethics approval was obtained.