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Published on: August 27, 2013

AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma

Yoram Cohen1, Bruria Shalmon, Jacob Korach

  • 1Department of Obstetrics and Gynecology, Sheba Medical Center, Tel-Hashomer, Israel. ycohen1@gmail.com

Gynecologic Oncology
|October 27, 2009
PubMed
Abstract

Insights

The AKT1 E17K mutation was found in 4% of endometrial carcinomas (EC). This mutation, along with PTEN loss, suggests multiple genetic events drive EC, potentially indicating more aggressive tumors.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The PI3K/AKT pathway is crucial in endometrial carcinogenesis, often activated by PIK3CA and PTEN mutations.
  • Somatic activating mutations in AKT1 (E17K) have been observed in various cancers.

Purpose of the Study:

  • To determine the frequency of the AKT1 E17K mutation in endometrial carcinoma (EC).
  • To investigate coexisting mutations within the PI3K/AKT pathway in EC.

Main Methods:

  • Analyzed tumor DNA from 73 EC patients for the AKT1 E17K mutation using MALDI-TOF MS.
  • Screened tumors for concurrent mutations in PTEN, PIK3CA, and KRAS.

Main Results:

  • The AKT1 E17K mutation was identified in 4% of EC cases.
  • One case exhibited coexisting AKT1 E17K mutation and a PTEN loss-of-function mutation.

Conclusions:

  • AKT1 E17K mutation occurs in 4% of EC, supporting the multi-hit hypothesis for PI3K pathway activation.
  • The mutation's prevalence in high-grade, advanced-stage tumors suggests a link to aggressive EC behavior.

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