PTEN mutations and microsatellite instability in complex atypical hyperplasia, a precursor lesion to uterine endometrioid carcinoma

Ross L. Levine, Colyn B. Cargile, Marian S. Blazes, Bastiaan Van Rees, Robert J. Kurman, Lora Hedrick Ellenson

Research output: Contribution to journalArticlepeer-review

Abstract

The two most common types of genetic alterations yet identified in uterine endometrioid carcinoma (UEC) are PTEN mutations and micro-satellite instability (MI). Furthermore, MI-positive UECs (defined as tumors with detectable alterations at two or more different microsatellite loci) are significantly more likely to contain PTEN mutations than are MI-negative UECs. To determine whether PTEN inactivation is a relatively early event in endometrial tumorigenesis, we evaluated complex atypical hyperplasia (CAH), the direct precursor to UEC, for the presence of PTEN mutations. Mutations were present in 3 of 11 (27%) CAHs with synchronous UEC and in 4 of 18 (22%) CAHs that were not associated with invasive carcinoma. One case with synchronous CAH and UEC contained a gem-line PTEN mutation. In addition, we evaluated the same series of CAHs for MI. We identified four MI-positive CAHs with synchronous UEC but did not detect the MI phenotype in any CAHs without associated invasive carcinoma. A PTEN-mutant (germ-line mutation) MI-negative CAH was synchronous with a PTEN-mutant MI-positive UEC. These results suggest that mutation of PTEN can be an early event in the pathogenesis of UEC and may precede the development of the MI phenotype in a subset of cases.

Original languageEnglish (US)
Pages (from-to)3254-3258
Number of pages5
JournalCancer Research
Volume58
Issue number15
StatePublished - Aug 1 1998

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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