Genetic profile of patients with stage I–IIIA non-small cell lung cancer

Author:

Kazakov A. M.1ORCID,Laktionov K. K.2ORCID,Sarantseva K. A.1ORCID

Affiliation:

1. N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia

2. N.N. Blokhin National Medical Research Center of Oncology, Ministry of Health of Russia; Pirogov Russian National Research Medical University, Ministry of Health of Russia

Abstract

Background. The article presents data on somatic mutations found in the Russian population of patients with non-small cell lung cancer (NSCLC), their frequency, distribution depending on the histological type of tumor.Aim. To study the molecular genetic profile of Russian patients with stage I–IIIA localized NSCLC, the frequency of occurrence of various somatic mutations, variants of the switching status.Materials and methods. Genetic testing for a panel of 78 genes using the Next Generation Sequencing method of tumor material obtained after surgical treatment of 65 patients with localized stage I–IIIA NSCLC. Processing of the received data was carried out by methods of descriptive statistics.43Results. Mutations in the EGFR, ALK, ROS1, RET, BRAF, KRAS, MET, HER2 genes were found only in adenocarcinoma. Among non-targeted mutations in adenocarcinoma, TP53, STK11, FGFR3, EML4, NF1, RB1, and KMTC2 mutations were the most common. In squamous cell lung cancer, TP53, KMT2C, TSC1, EML4, PTEN, NF1, COL22A1, CDKN2A, RB1, BRCA1 were the most common. Mutations in the EGFR gene were most often associated with mutations in TP53 (30 % of cases), RB1 (15 % of cases), COL22A1 (15 % of cases); ALK was combined with TP53, NF1, WT1 – in 33 % of cases, ROS1 with DDR2 (33 % of cases), ERBB2 was combined with NTRK1, GPC3, HIP1, KIF5B, TP53, XPC, COL22A1 – in 14 % of cases, BRAF was most often associated with mutations in the TP53 gene (14 %) and COL22A1 (13.8 %); a mutation in the RET gene was associated with a TP53 mutation; ROS1 translocation in 50 % of cases was associated with mutations in the TRIM33 and TP53 genes.Conclusion. The data obtained give an idea of the frequency of occurrence of somatic mutations among Russian patients with NSCLC, which is important for the selection of diagnostic panels, interpretation of their results, and also potentially for the development of original custom Next Generation Sequencing testing panels.

Publisher

Publishing House ABV Press

Subject

General Medicine

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3