Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer: A Case Report

Salim Moussa 1Fatima Saleh 1Said El Shamieh 1Tarek Assi 2 3Ahmad Othman 3Fadi Farhat 2 3

Affiliations

1Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.

2Department of Hematology-Oncology, Saint Joseph Faculty of Medicine, Beirut, Lebanon.

3Department of Hematology and Oncology, Hammoud Hospital UMC, Saida, Lebanon.

PMID: 32231543

PMCID: PMC7098360

DOI: 10.1159/000505723

Free PMC article

Abstract

Ovarian cancer (OC) is one of the most dangerous gynecological diseases and greatly increases the death risk worldwide. The heterogeneity of the ovarian tumors among patients and the lack of sufficient therapies for these tumors make the selection of the appropriate treatment a hard challenge. Understanding the mechanisms leading to OC becomes an urgent need in order to find out better therapeutic strategies. In this study, we have identified a point mutation (L449S) in the regulatory subunit of PI3K in an OC Lebanese patient. This genomic alteration had not been previously reported in OC and could plausibly enhance the PIK3CA amplification effect in strengthening AKT/mTOR pathway activity and leading to tumorigenesis.

Keywords: AKT/mTOR pathway; Next-generation sequencing; Ovarian cancer; PIK3R1 (L449S) mutation.

Conflict of interest statement

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or a financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. No writing assistance was utilized in the production of the manuscript.