Norma Hernández-Pedro1, Giovanny Soca-Chafre1, Carmen Alaez-Versón2, Karol Carrillo-Sánchez2, Alejandro Avilés-Salas3, Edgar Vergara4, Oscar Arrieta4. 1. Laboratorio de Medicina Personalizada, Instituto Nacional de Cancerología. Mexico City, Mexico. 2. Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica. Mexico City, Mexico. 3. Departamento de Patalogía, Instituto Nacional de Cancerología. Mexico City, Mexico. 4. Unidad Funcional de Oncología Torácica, Instituto Nacional de Cancerología. Mexico City, Mexico.
Abstract
OBJECTIVE: Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed detection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with nonsmall cell lung cancer (NSCLC). MATERIALS AND METHODS: Genomic DNA was extracted from 90 lung adenocarcinomas and sequences were generated for a panel of 48 cancer genes. Epidermal Growth Factor Receptor (EGFR) mutations were detected in parallel by quantitative PCR. RESULTS: The mutational profile of NSCLC revealed alterations in 27 genes, where TP53 (47.8%) and EGFR (36.7%) exhibited the highest mutation rates. EGFR Q787 mutations were present in 14 cases (15.6%), 10 cases had exon 19 deletions (11.1%), seven cases had L858R (7.8%). The mutational frequency for genes like EGFR, MET, HNF1A, HER2 and GUSB was different compared to caucasian population. CONCLUSIONS: t-NGS improved NSCLC treatments efficacy due to its sensitivity and specificity. A distinct pattern of somatic mutations was found in Mexican population.
OBJECTIVE: Targeted next-generation sequencing (t-NGS) has revolutionized clinical diagnosis allowing multiplexed detection of genomic alterations. This study evaluated the profile of somatic mutations by t-NGS in Mexican patients with nonsmall cell lung cancer (NSCLC). MATERIALS AND METHODS: Genomic DNA was extracted from 90 lung adenocarcinomas and sequences were generated for a panel of 48 cancer genes. Epidermal Growth Factor Receptor (EGFR) mutations were detected in parallel by quantitative PCR. RESULTS: The mutational profile of NSCLC revealed alterations in 27 genes, where TP53 (47.8%) and EGFR (36.7%) exhibited the highest mutation rates. EGFR Q787 mutations were present in 14 cases (15.6%), 10 cases had exon 19 deletions (11.1%), seven cases had L858R (7.8%). The mutational frequency for genes like EGFR, MET, HNF1A, HER2 and GUSB was different compared to caucasian population. CONCLUSIONS: t-NGS improved NSCLC treatments efficacy due to its sensitivity and specificity. A distinct pattern of somatic mutations was found in Mexican population.
Entities:
Keywords:
DNA sequencing; adenocarcinoma; lung; mutational analysis, DNA
Authors: Pedro Barrios-Bernal; Zyanya Lucia Zatarain-Barrón; Norma Hernández-Pedro; Mario Orozco-Morales; Alejandra Olivera-Ramírez; Federico Ávila-Moreno; Ana Laura Colín-González; Andrés F Cardona; Rafael Rosell; Oscar Arrieta Journal: Pharmaceuticals (Basel) Date: 2022-06-24
Authors: Rossana Ruiz; Marco Galvez-Nino; Katia Roque; Jaime Montes; Maria Nuñez; Luis Raez; Sergio Sánchez-Gambetta; Sandra Jaúregui; Sandra Viale; Edward S Smith; Joseph A Pinto; Luis Mas Journal: Front Oncol Date: 2022-09-29 Impact factor: 5.738