墨西哥人群非小细胞肺癌的靶向下一代测序突变特征分析。
Mutational profile by targeted next generation sequencing of non-small cell lung cancer in the Mexican population.
机构信息
Laboratorio de Medicina Personalizada, Instituto Nacional de Cancerología. Mexico City, Mexico.
Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica. Mexico City, Mexico.
出版信息
Salud Publica Mex. 2019 May-Jun;61(3):308-317. doi: 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 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.
目的
靶向二代测序（t-NGS）技术的发展使得对基因组改变的多重检测成为可能，从而彻底改变了临床诊断。本研究评估了 t-NGS 技术在墨西哥非小细胞肺癌（NSCLC）患者中检测体细胞突变的特点。
材料和方法
从 90 例肺腺癌中提取基因组 DNA，并对 48 个肿瘤相关基因的一组进行测序。同时采用实时定量 PCR 方法检测表皮生长因子受体（EGFR）基因突变。
结果
NSCLC 的突变谱显示有 27 个基因发生了改变，其中 TP53（47.8%）和 EGFR（36.7%）的突变率最高。14 例（15.6%）存在 EGFR Q787 突变，10 例存在外显子 19 缺失（11.1%），7 例存在 L858R（7.8%）。与白种人相比，EGFR、MET、HNF1A、HER2 和 GUSB 等基因的突变频率有所不同。
结论
t-NGS 技术具有较高的灵敏度和特异性，提高了 NSCLC 治疗的效果。在墨西哥人群中发现了独特的体细胞突变模式。
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