Rathi Nityam, Anderson Neysi, Greenberg Samantha, Vagher Jennie, Agarwal Neeraj, Hahn Andrew W
Division of Oncology, Department of Internal Medicine, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
World J Oncol. 2018 Aug;9(4):119-122. doi: 10.14740/wjon1144w. Epub 2018 Sep 6.
Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline variant. We discuss the significance of his referral to a high-risk genetics clinic and the unique targeted therapy that he responded to.
DNA修复基因中的种系致病性变异（PVs）在转移性前列腺癌中受到越来越多的关注，越来越多的患者正在进行体细胞和种系DNA检测。对许多临床医生来说，种系DNA检测的解读是一项新的挑战，种系DNA修复基因检测的结果对晚期前列腺癌男性患者及其子女和兄弟姐妹具有重要意义。在此，我们报告一例患有转移性去势抵抗性前列腺癌且携带种系致病性变异的男性病例。我们讨论了将他转诊至高风险遗传学诊所的意义以及他所接受的独特靶向治疗。
