Molecular pathology of endometrial hyperplasia and carcinoma

Xavier Matias-guiu, Lluis Catasus, Elena Bussaglia, Helena Lagarda, Arnald Garcia, Cristina Pons, Josefina Muoz, Rosmary Argüelles, Pilar Machin, Jaime Prat

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273 Citations (Scopus)


Four different genetic abnormalities may occur in endometrioid adenocarcinomas of the endometrium (mircosatellite instability and mutations in the PTEN, k-RAS and β-catenin genes), whereas nonendometrioid carcinomas of the endometrium often have p53 mutations and loss of heterozygosity on several chromosomes. Occasionally, a nonendometrioid carcinoma may develop as a result of dedifferentiation of a preexisting endometrioid carcinoma; in such a case, the tumor exhibits overlapping clinical, morphologic, immunohistochemical, and molecular features of the 2 types. The insaturation of microsatellite instability in endometrial carcinogenesis seems to occur late in the transition from complex hyperplasia to carcinoma, and it is preceded by progressive inactivation of MLH-1 by promoter hypermethylation. Moreover, the endometrioid adenocarcinomas that exhibit microsatellite instability show a stepwise progressive accumulation of secondary mutations in oncogenes and tumor suppressor genes that contain short-tandem repeats in their coding sequences. Mutations in the PTEN and k-RAS genes are also frequent in endometrioid adenocarcinomas of the endometrium, particularly in the tumors that exhibit microsatellite instability, whereas β-catenin mutations do not seem to be associated with such a phenomenon. Copyright © 2001 by W.B. Saunders Company.
Original languageEnglish
Pages (from-to)569-577
JournalHuman Pathology
Publication statusPublished - 1 Jan 2001


  • Endometrial carcinoma
  • MLH-1 methylation
  • Microsatellite instability
  • Molecular pathology
  • PTEN
  • k-RAS
  • β-catenin


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