原发性与配对转移性结直肠癌之间遗传异质性的研究进展

Research progress on genetic heterogeneity between primary and paired metastatic colorectal cancer.

作者信息

Lu You-Wang, Wang Kun-Hua

机构信息

Faculty of Medical , Kunming University of Science and Technology, Kunming 650500, China.

1. Faculty of Medical , Kunming University of Science and Technology, Kunming 650500, China; 2. Department of Gastrointestinal and Hernia surgery, The First Affiliated Hospital of Kunming Medical University, Kunming 650500, China; 3. Yunnan Institute of Digestive Disease, The First Affiliated Hospital of Kunming Medical University, Kunming 650500, China.

出版信息

Yi Chuan. 2017 Jun 20;39(6):482-490. doi: 10.16288/j.yczz.16-357.

DOI:10.16288/j.yczz.16-357

PMID:28903907

Abstract

Colorectal cancer (CRC) is one of the leading causes of cancer deaths in China. A standard practice in treating metastatic CRC (mCRC) is to predict benefits of the anti-EGFR monoclonal antibody treatment based on the somatic mutation spectrum. Because metastatic samples are difficult to obtain clinically, primary tumors are normally used instead. However, due to the genetic heterogeneity between primary and paired metastatic tumors, primary site biopsy always underrepresents the mutational landscape of metastatic sites. Currently, the extent of genetic heterogeneity between primary and paired mCRC is still under debate. Here, we review comparative studies of primary and matched mCRC and discuss the underlying causes and potential strategies.

摘要

结直肠癌（CRC）是中国癌症死亡的主要原因之一。治疗转移性结直肠癌（mCRC）的标准做法是根据体细胞突变谱预测抗表皮生长因子受体（EGFR）单克隆抗体治疗的获益情况。由于临床上难以获取转移样本，通常使用原发性肿瘤替代。然而，由于原发性肿瘤和配对转移瘤之间存在基因异质性，原发部位活检往往不能充分代表转移部位的突变情况。目前，原发性和配对mCRC之间的基因异质性程度仍存在争议。在此，我们综述了原发性和配对mCRC的比较研究，并讨论了潜在原因和应对策略。