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

Abstract

KeywordsOvarian cancer · PIK3R1 (L449S) mutation · AKT/mTOR pathway · Next-generation sequencing 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. BackgroundOvarian cancer (OC) is one of the most common diagnosed gynecological cancers [1], contributing 3.4% of all new cancer cases and 4.4% of deaths among women in 2018 [2]. In 2018, OC was rated as the seventh most commonly occurring cancer in women worldwide, and as the second most invasive cancer in women above the age of 40 in developed countries [3]. OC is considered the most lethal gynecological cancer [4]. If it is diagnosed at early stages,