Yu Evan Y, Rumble R Bryan, Agarwal Neeraj, Cheng Heather H, Eggener Scott E, Bitting Rhonda L, Beltran Himisha, Giri Veda N, Spratt Daniel, Mahal Brandon, Lu Kevin, Crispino Tony, Trabulsi Edouard J
University of Washington and Fred Hutchinson Cancer Center, Seattle, WA.
American Society of Clinical Oncology, Alexandria, VA.
J Clin Oncol. 2025 Feb 20;43(6):748-758. doi: 10.1200/JCO-24-02608. Epub 2025 Jan 9.
To evaluate evidence on germline and somatic genomic testing for patients with metastatic prostate cancer and provide recommendations.
A systematic review by a multidisciplinary panel with patient representation was conducted. The PubMed database was searched from January 2018 to May 2024. Articles were selected for inclusion if they reported on patients with metastatic prostate cancer who received a germline or somatic genomic test and/or made comparisons between those tests, reported detection rates, prognostic information, or treatment implications.
A total of 1,713 papers were identified in the literature search. After applying the eligibility criteria, 14 remained: eight systematic reviews and six clinical trials.
Patients with metastatic prostate cancer should undergo both germline and somatic DNA sequencing using panel-based assays. These tests can guide the use of poly(ADP-ribose) polymerase inhibitors, which have a survival benefit in metastatic castration-resistant prostate cancer. In addition, germline testing may have screening implications for additional cancers for patients and cascade testing implications for family members. The data supporting when to perform repeat testing and optimal tissue type to use (eg, primary tumor metastatic biopsy versus circulating tumor DNA [ctDNA] testing) are more limited, but this panel recommends considering retesting in patients whose results were previously negative or uninformative, and to consider either a metastatic biopsy or ctDNA when a significant change in clinical status occurs. Next-generation genomic sequencing findings that are associated with prognostic only (and not predictive) value should not be used to guide treatment outside of a clinical trial.Additional information is available at www.asco.org/genitourinary-cancer-guidelines.
评估转移性前列腺癌患者种系和体细胞基因组检测的证据并提供建议。
由一个有患者代表参与的多学科小组进行系统综述。检索了2018年1月至2024年5月的PubMed数据库。如果文章报道了接受种系或体细胞基因组检测的转移性前列腺癌患者,和/或对这些检测进行了比较,报道了检测率、预后信息或治疗意义,则选择纳入。
在文献检索中总共确定了1713篇论文。应用纳入标准后,剩下14篇:8篇系统综述和6篇临床试验。
转移性前列腺癌患者应使用基于组套检测的方法同时进行种系和体细胞DNA测序。这些检测可以指导聚(ADP-核糖)聚合酶抑制剂的使用,其在转移性去势抵抗性前列腺癌中有生存获益。此外,种系检测可能对患者的其他癌症有筛查意义,对家庭成员有级联检测意义。支持何时进行重复检测以及使用何种最佳组织类型(例如,原发性肿瘤与转移性活检与循环肿瘤DNA[ctDNA]检测)的数据更为有限,但该小组建议考虑对先前结果为阴性或无信息的患者进行重新检测,并在临床状态发生重大变化时考虑进行转移性活检或ctDNA检测。仅与预后(而非预测)价值相关的下一代基因组测序结果不应在临床试验之外用于指导治疗。更多信息可在www.asco.org/genitourinary-cancer-guidelines获取。