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Salud Pública de México

versión impresa ISSN 0036-3634

Resumen

HERNANDEZ-PEDRO, Norma et al. Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population. Salud pública Méx [online]. 2019, vol.61, n.3, pp.308-317.  Epub 03-Mar-2020. ISSN 0036-3634.  https://doi.org/10.21149/10113.

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 non-small 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.

Conclusion:

t-NGS improved NSCLC treatments efficacy due to its sensitivity and specificity. A distinct pattern of somatic mutations was found in Mexican population.

Palabras llave : mutational analysis, DNA; adenocarcinoma; lung; DNA sequencing.

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