Perfil molecular tumoral del cáncer pulmonar medido por secuenciación de nueva generación

J. Alatorre-Alexander, Patricio Santillán-Doherty, L. Martínez-Barrera, J. Rodríguez-Cid, María del Rosario Flores-Soto, Carla Paola Sánchez-Ríos
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Abstract

. Introduction: Lung cancer is the leading cause of cancer death worldwide, showing an increase in women and non‑smokers in the last decade. Currently, the diagnostic‑therapeutic approach is being studied with the knowledge of the heterogeneity of tumors and the optimization in molecular analysis with novel techniques such as genetic sequencing. Material and methods: A cross‑sectional and descriptive study was carried out. We included 112 patients with clinical stage IV non‑small cell lung cancer. Relevant regions for the search for cancer‑associated mutations in 15 genes were analyzed in tumor tissue samples and subsequently a univariate descriptive analysis was performed. Results: A higher frequency of mutations was observed in TP53 (64.3%), followed by 32 subjects (28.6%) with mutation in EGFR and 29 subjects (25.9%) with mutation in ERBB2. Followed in order of frequency KRAS, PIK3CA, KIT, BRAF NRAS. No mutations were found in AKT and MET. Conclusions: We corroborated by sequencing of new generation the approximate frequency reported of mutations in EGFR and its association with antecedent of smoking and the female gender as it has been established in the international literature.
新一代测序法测定的肺癌肿瘤分子谱
。肺癌是世界范围内癌症死亡的主要原因,在过去十年中,女性和非吸烟者的人数有所增加。目前,诊断-治疗方法正在研究与肿瘤的异质性知识和优化分子分析的新技术,如基因测序。材料和方法:采用横断面和描述性研究。我们纳入了112例临床期非小细胞肺癌患者。在肿瘤组织样本中分析了15个基因中寻找癌症相关突变的相关区域,随后进行了单变量描述性分析。结果:TP53突变频率最高(64.3%),其次为EGFR突变32例(28.6%),ERBB2突变29例(25.9%)。频率依次为KRAS、PIK3CA、KIT、BRAF NRAS。AKT和MET未见突变。结论:我们通过新一代的测序证实了国际文献中已经确定的EGFR突变的大致频率及其与吸烟背景和女性性别的关联。
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