中国癌症杂志 ›› 2018, Vol. 28 ›› Issue (8): 627-633.doi: 10.19401/j.cnki.1007-3639.2018.08.011

• 指南与共识 • 上一篇    下一篇

中国前列腺癌患者基因检测专家共识(2018年版)

中国抗癌协会泌尿男生殖系肿瘤专业委员会前列腺癌学组   

  • 出版日期:2018-08-30 发布日期:2018-09-14
  • 通信作者: 叶定伟 E-mail: dwyeli@163.com

Expert consensus on genetic testing in Chinese prostate cancer patients (2018 edition)

Prostate Cancer Working Group of China Anti-Cancer Association Genitourinary Cancer Committee   

  • Published:2018-08-30 Online:2018-09-14
  • Contact: YE Dingwei E-mail: dwyeli@163.com

摘要: 随着第二代测序技术(next generation sequencing,NGS)在前列腺癌诊疗中愈加广泛地应用,前列腺癌精准诊治策略已使越来越多的患者受益。目前的研究已表明,对于同源重组修复缺陷的转移性去势抵抗性前列腺癌(metastatic castration-resistant prostate cancer,mCRPC)患者,可从奥拉帕利和铂类化疗药物中获益;针对免疫检查点抑制剂PD-1/PD-L1抗体,未经筛选的前列腺癌患者受益有限,然而错配修复缺陷及高度微卫星不稳定型前列腺癌患者则可接受PD-1抑制剂帕博利珠单抗(pembrolizumab)治疗。除提示药物敏感性外,NGS基因检测对于驱动基因突变患者发病风险的预估也起着重要作用。如何利用NGS精准定位可使前列腺癌患者获益的同时避免过度检测,以及针对突变基因进行解读提供后续诊疗建议,从而为中国前列腺癌患者制定个体化的治疗方案是我们每位临床医师面临的重要问题。为此,中国抗癌协会泌尿男生殖系肿瘤专业委员会前列腺癌学组组织专家撰写了本共识,以规范并促进NGS基因检测在前列腺癌诊疗中的应用。

关键词: 前列腺癌, 第二代测序技术, 基因检测

Abstract: With the application of next generation sequencing (NGS) in prostate cancer more widely, more and more patients with prostate cancer have benefited from the precision treatment. Previous studies have revealed that metastatic castration-resistant prostate cancer (mCRPC) patients with homologous recombination repair defects can benefit from PARP inhibitor olaparib and platinum-based chemotherapy. As for PD-1/PD-L1, the outcome of unselected cases is limited whereas patients with mismatch repair defects have a positive reponse to pembrolizumab. In addition, the application of NGS plays an important role in predicting the cancer risk in people with gene mutations. And it is important for every clinician to consider how to precisely locate the patients likely benefitting from NGS, avoiding overdetection and provide advices based on gene mutations. In order to regulate and promote the application of NGS in prostate cancer, China Anti-Cancer Association Genitourinary Cancer Committee composed this expert consensus.

Key words: Prostate cancer, Next generation sequencing, Genetic testing