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

Salim Moussa; Fatima Saleh; Said El Shamieh; Tarek Assi; Ahmad Othman; Fadi Farhat

doi:10.1159/000505723

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

Case Rep Oncol. 2020 Feb 20;13(1):188-192. doi: 10.1159/000505723. eCollection 2020 Jan-Apr.

Authors

Salim Moussa¹, Fatima Saleh¹, Said El Shamieh¹, Tarek Assi^{2

3}, Ahmad Othman³, Fadi Farhat^{2

3}

Affiliations

¹ Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
² Department of Hematology-Oncology, Saint Joseph Faculty of Medicine, Beirut, Lebanon.
³ Department of Hematology and Oncology, Hammoud Hospital UMC, Saida, Lebanon.

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.

Publication types

Case Reports