Song Won Hoon, Kim Sung Han, Joung Jae Young, Park Weon Seo, Seo Ho Kyung, Chung Jinsoo, Lee Kang Hyun
Department of Urology, Seoul National University Hospital, Seoul, Korea.
Department of Urology, Center for Prostate Cancer, National Cancer Center, Goyang, Korea.
J Korean Med Sci. 2017 Feb;32(2):377-381. doi: 10.3346/jkms.2017.32.2.377.
One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer with his 2 nieces affected. Furthermore, his aunts and uncles from both sides were diagnosed with stomach, ovarian, and colorectal cancers. His genomic sequencing analysis of the BRCA genes revealed the same BRCA2 deleterious mutation that his breast cancer-affected nieces carried. Previous studies have suggested that BRCA2-mutated PC is associated with a more aggressive phenotype and poor prognosis. Our experience in the present case also indicated the urgent needs for novel treatment modality and PC screening in this high-risk group of patients.
前列腺癌（PC）最重要的风险因素之一是该病的家族病史，其中乳腺癌易感基因（BRCA）2的种系突变风险最高。我们在此报告一名56岁男性，因疼痛性步态障碍就诊，被诊断为患有多处骨转移的PC。该患者有很强的乳腺癌家族病史，他的2个侄女受影响。此外，他双方的姑姑和叔叔分别被诊断患有胃癌、卵巢癌和结直肠癌。对他的BRCA基因进行的基因组测序分析显示，他携带了与受乳腺癌影响的侄女相同的BRCA2有害突变。先前的研究表明，BRCA2突变的PC与更具侵袭性的表型和不良预后相关。我们在本病例中的经验也表明，在这一高危患者群体中迫切需要新的治疗方式和PC筛查。
