遗传 ›› 2017, Vol. 39 ›› Issue (6): 482-490.doi: 10.16288/j.yczz.16-357

• 综述 • 上一篇    下一篇

结直肠癌原发与配对转移肿瘤遗传异质性研究进展

鲁有望1(),王昆华1,2,3()   

  1. 1. 昆明理工大学医学院,昆明 650500
    2. 昆明医科大学第一附属医院胃肠与疝外科,昆明 650500
    3. 云南省消化病研究所,昆明 650500
  • 收稿日期:2016-12-22 修回日期:2017-04-05 出版日期:2017-06-20 发布日期:2017-04-28
  • 作者简介:鲁有望，博士研究生，专业方向：环境医学工程。E-mail: youwanglu@163.com|王昆华，教授，主任医师，博士生导师。研究方向：结直肠基因组学及肿瘤异质性。E-mail: wangkunhua_group@163.com
  • 基金资助:
    云南省卫生厅内设机构云南省消化病研究所项目资助课题(2016NS001,2016NS003,2016NS004);云南省教育厅科学研究项目资助课题(2015J054);云南省教育厅科学研究基金重大专项资助课题(ZD2015010)

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

Youwang Lu1(),Kunhua Wang1,2,3()   

  1. 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
  • Received:2016-12-22 Revised:2017-04-05 Online:2017-06-20 Published:2017-04-28
  • Supported by:
    the Foundation of Yunnan Institute of Digestive Disease(2016NS001,2016NS003,2016NS004);the Scientific Research Project of Yunnan Provincial Bureau of Education(2015J054);The Major project of Yunnan Provincial Bureau of Education(ZD2015010)

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摘要：

结直肠癌(colorectal cancer, CRC)是我国常见的致死性肿瘤类型之一。根据体细胞突变谱预测抗EGFR单抗治疗疗效已成为转移性结直肠癌(metastatic colorectal cancer, mCRC)治疗的标准步骤。由于临床上转移样本难以获得,只能采用原发肿瘤替代进行检测。原发和配对转移肿瘤间的遗传异质性会导致原发灶取样无法代表转移灶突变谱。目前CRC原发和配对转移肿瘤间遗传异质性程度仍存在争议。本文就CRC原发和配对转移基因组谱的对比研究进行了综述,并讨论了原发与配对转移肿瘤遗传异质性形成的原因及应对策略。

关键词: 结直肠肿瘤, 遗传异质性, 原发灶, 转移灶

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.

Key words: colorectal cancer, genetic heterogeneity, primary site, metastases site