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

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

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Résumé

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.

langue originale	Anglais
Pages (de - à)	188-192
Nombre de pages	5
journal	Case Reports in Oncology
Volume	13
Numéro de publication	1
Les DOIs	https://doi.org/10.1159/000505723
état	Publié - 1 janv. 2020
Modification externe	Oui

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10.1159/000505723

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

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",

author = "Salim Moussa and Fatima Saleh and {El Shamieh}, Said and Tarek Assi and Ahmad Othman and Fadi Farhat",

note = "Publisher Copyright: {\textcopyright} 2020 The Author(s). Published by S. Karger AG, Basel.",

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T1 - Detection of PIK3R1 (L449S) Mutation in a Patient with Ovarian Cancer

T2 - A Case Report

AU - Moussa, Salim

AU - Saleh, Fatima

AU - El Shamieh, Said

AU - Assi, Tarek

AU - Othman, Ahmad

AU - Farhat, Fadi

PY - 2020/1/1

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N2 - 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.

AB - 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.

KW - AKT/mTOR pathway

KW - Next-generation sequencing

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