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AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma

Dorit E Zilberman1, Yoram Cohen, Ninette Amariglio

  • 1Department of Urology, The Chaim Sheba Medical Center, Tel-Ha'Shomer, Ramat-Gan, Affiliated to Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. dorit1e@yahoo.com

Cancer Genetics and Cytogenetics
|April 25, 2009
PubMed

Insights

The AKT1 E17K mutation, a rare genetic alteration, was investigated in urothelial carcinoma. This specific mutation was identified in 3.8% of patients, suggesting its infrequent occurrence in this cancer type.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The Phosphatidylinositol 3-kinase/AKT (PI3K/AKT) pathway is often hyperactivated in various human cancers.
  • A specific G to A point mutation, designated E17K, has been identified in the pleckstrin homology domain of the AKT1 gene.

Purpose of the Study:

  • To investigate the prevalence and characteristics of the AKT1 E17K mutation in patients diagnosed with urothelial carcinoma.
  • To determine if this mutation is associated with specific clinical or pathological features in urothelial carcinoma cases.

Main Methods:

  • Analysis of 26 total RNA samples from patients with confirmed urothelial carcinoma.
  • Utilized chip-based matrix-assisted laser desorption-time-of-flight (MALDI-TOF) mass spectrometry to detect the AKT1 E17K mutation.

Main Results:

  • The AKT1 E17K mutation was detected in one out of 26 (3.8%) urothelial carcinoma samples.
  • The identified mutation occurred in a 46-year-old female with low-grade transitional cell carcinoma (Ta disease) confined to the lamina propria.

Conclusions:

  • The AKT1 E17K mutation is rare in urothelial carcinoma, consistent with findings in other cancer types.
  • Further research is necessary to ascertain if the AKT1 E17K mutation correlates with less aggressive disease or a better patient prognosis.

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