中国前列腺癌患者基因检测专家共识(2020年版)

Chinese expert consensus on genomic testing of prostate cancer patients(the 2020 edition)

随着第二代测序(next-generation sequencing,NGS)技术在前列腺癌诊疗中愈加广泛的应用,越来越多的患者能够从前列腺癌精准治疗中获益。美国食品药品管理局(Food and Drug Administration,FDA)已批准多聚腺苷二磷酸核糖聚合酶[poly(ADP-ribose)polymerase,PARP]抑制剂用于携带同源重组修复基因突变的转移性去势抵抗性前列腺癌的治疗;而就程序性死亡[蛋白]-1(programmed death-1,PD-1)/程序性死亡[蛋白]配体-1(programmed death ligand-1,PD-L1)抗体等免疫检查点抑制剂而言,错配修复缺陷及高微卫星不稳定型前列腺癌患者能够通过帕博利珠单抗(pembrolizumab)治疗获益。此外,NGS检测对于携带胚系基因突变患者家属肿瘤发病风险的预估也具有重要作用。如何在利用NGS技术精准定位可获益前列腺癌患者的同时避免过度检测,如何在遗传咨询中针对基因突变进行解读并提供后续的诊疗建议,从而为中国前列腺癌患者制定个体化的治疗方案是所有临床医师面临的重要问题。在《中国前列腺癌患者基因检测专家共识(2018年版)》和《中国前列腺癌患者基因检测专家共识(2019年版)》的基础上,中国抗癌协会泌尿男生殖系肿瘤专业委员会及中国临床肿瘤学会前列腺癌专家委员会组织专家结合最新发表的数据形成《中国前列腺癌患者基因检测专家共识(2020年版)》(以下简称《2020年版共识》),以便进一步指导NGS基因检测在前列腺癌诊疗中的规范应用,不断优化患者的个体化诊疗方案,探索并建立以肿瘤生物标志物为引导的临床治疗路径。

With more wide application of next-generation sequencing(NGS) technology in prostate cancer, increasing numbers of patients have benefited from the precision treatment. The USA Food and Drug Administration(FDA) has approved the poly(ADP-ribose) polymerase(PARP) inhibitor for the treatment of metastatic castration-resistant prostate cancer with homologous recombination repair gene mutations. As for programmed death-1(PD-1)/programmed death ligand-1(PD-L1) inhibitors, the outcome of unselected cases is limited whereas patients with mismatch repair defects have a positive response to pembrolizumab. In addition, the application of NGS plays an important role in predicting the cancer risk in family members with gene mutation. And it is important for every clinician to consider how to precisely locate the patients likely benefiting from NGS, avoiding over-detection and provide advices based on gene mutations. In order to further guide the standardized application of NGS, optimize the individualized diagnosis and treatment for prostate cancer patients, and establish a clinical treatment pathway guided by tumor biomarkers, China Anti-Cancer Association Genitourinary Cancer Committee and Chinese Society of Clinical Oncology Committee on Prostate Cancer updated this expert consensus with newly published research.