美国德克萨斯大学安德森癌症中心Y. A. Jakubek等研究人员利用大规模分析发现，癌症患者非肿瘤样本中存在获得性染色体改变。2019年11月4日，国际学术期刊《自然—生物技术》在线发表了该研究成果。
为了进行大规模组织镶嵌分析，研究人员调查了来自27个癌症位点的1708例正常出现的邻近肿瘤（NAT）组织样本以及来自The Cancer Genome Atlas的7149份血液样本中的单倍型特异性体拷贝数变化（sCNA）。研究人员发现sCNA的速率、负担和类型（包括跨越整个染色体臂的sCNA）在整个组织中存在很大差异。研究人员在NAT组织和邻近的肿瘤中记录了匹配的sCNA，这提示了一个共同的克隆起源，以及NAT组织和肿瘤组织都具有相同癌基因的增益的情况，这些癌基因是由不同的亲本单倍体平行产生的。这些结果揭示了区域癌变的特征性泛组织突变，即与癌细胞相邻的致癌过程的存在。
据介绍，组织镶嵌是携带体细胞突变的细胞亚群的存在，与疾病和衰老有关，并且已在多种组织中检测到，包括与肿瘤相邻的显然正常的细胞。
附：英文原文
Title: Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer
Author: Y. A. Jakubek, K. Chang, S. Sivakumar, Y. Yu, M. R. Giordano, J. Fowler, C. D. Huff, H. Kadara, E. Vilar, P. Scheet
Issue&Volume: 2019-11-04
Abstract: Mosaicism, the presence of subpopulations of cells bearing somatic mutations, is associated with disease and aging and has been detected in diverse tissues, including apparently normal cells adjacent to tumors. To analyze mosaicism on a large scale, we surveyed haplotype-specific somatic copy number alterations (sCNAs) in 1,708 normal-appearing adjacent-to-tumor (NAT) tissue samples from 27 cancer sites and in 7,149 blood samples from The Cancer Genome Atlas. We find substantial variation across tissues in the rate, burden and types of sCNAs, including those spanning entire chromosome arms. We document matching sCNAs in the NAT tissue and the adjacent tumor, suggesting a shared clonal origin, as well as instances in which both NAT tissue and tumor tissue harbor a gain of the same oncogene arising in parallel from distinct parental haplotypes. These results shed light on pan-tissue mutations characteristic of field cancerization, the presence of oncogenic processes adjacent to cancer cells.
DOI: 10.1038/s41587-019-0297-6
Source: https://www.nature.com/articles/s41587-019-0297-6
Nature Biotechnology：《自然—生物技术》，创刊于1996年。隶属于施普林格·自然出版集团，最新IF：68.164
官方网址：https://www.nature.com/nbt/
投稿链接：https://mts-nbt.nature.com/cgi-bin/main.plex
本期文章：《自然—生物技术》：Online/在线发表
