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根据突变谱进行分子分型，对于提供精准治疗和了解肿瘤异质性尤其重要。然而，晚期乳腺癌不同亚型的体细胞突变谱大多未知。 2017年7月20日，英国《自然》旗下《科学报告》在线发表中国医学科学院肿瘤医院、国家癌症中心、北京吉因加、北京桓兴肿瘤医院的研究报告（通讯作者：马飞），应用靶区捕获深度测序，确定晚期乳腺癌不同亚型循环肿瘤DNA（ctDNA）常见癌症相关基因的突变率和突变谱，并分析其与临床特征的相关性。 该回顾研究入组100例女性晚期乳腺癌患者，其中96例（96.0%）ctDNA有体细胞基因组变化，包括拷贝数变异和点突变。结果表明，晚期乳腺癌不同亚型的基因变化具有突出特征。多变量回归分析提示，体细胞突变数量与内分泌治疗失败次数呈正比，躯干突变比例与靶向治疗失败次数呈正比。 相关阅读 Sci Rep. 2017 Jul 20;7(1):5995. Landscape of somatic mutations in different subtypes of advanced breast cancer with circulating tumor DNA analysis. Yi Z, Ma F, Li C, Chen R, Yuan L, Sun X, Guan X, Li L, Liu B, Guan Y, Qian H, Xu B. National Cancer Center/Cancer Institute/Cancer hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China; Geneplus-Beijing, Beijing, China; Huanxing Cancer Hospital, Beijing, China. It is particularly important to provide precise therapies and understand tumor heterogeneity based on the molecular typing of mutational landscape. However, the landscape of somatic mutations in different subtypes of advanced breast cancer (ABC) is largely unknown. We applied target-region capture deep sequencing to determine the frequency and spectrum of common cancer-related gene mutations in circulating tumor DNA (ctDNA) among different ABC subtypes and analyze their association with clinical features. In this retrospective study of 100 female advanced breast cancer patients, 96 (96.0%) had somatic genomic alterations in ctDNA, including copy number variants and point mutations. The results revealed that different subtypes of ABC have distinct features in terms of genetic alterations. Multivariate regression analyses revealed that the number of somatic mutations increased with the line of endocrine therapy and the fractions of trunk mutations was positive associated with the line of target therapy. PMID: 28729728 DOI: 10.1038/s41598-017-06327-4 |
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