Adashek Jacob J, Leonard Alex, Roszik Jason, Menta Arjun K, Genovese Giannicola, Subbiah Vivek, Msaouel Pavlos
Department of Internal Medicine, University of South Florida, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33606, USA.
Morsani College of Medicine, University of South Florida, Tampa, FL 33612, USA.
Cancers (Basel). 2020 Mar 18;12(3):710. doi: 10.3390/cancers12030710.
This article aims to summarize the current literature on genetic alterations related to tumors of the genitourinary tract. Novel associations have recently been reported between specific DNA alterations and genitourinary malignancies. The most common cause of chromosome 3p loss in clear cell renal cell carcinoma is a chromothripsis event, which concurrently generates a chromosome 5q gain. Specific patterns of clear cell renal cell carcinoma metastatic evolution have been uncovered. The first therapy targeting a specific molecular alteration has now been approved for urothelial carcinoma. Germline mutations in DNA damage repair genes and the transcription factor HOXB13 are associated with prostate cancer and may be targeted therapeutically. The genetic associations noted across different genitourinary cancers can inform potential screening approaches and guide novel targeted treatment strategies.
本文旨在总结目前关于泌尿生殖道肿瘤相关基因改变的文献。最近报道了特定DNA改变与泌尿生殖系统恶性肿瘤之间的新关联。透明细胞肾细胞癌中3号染色体短臂缺失的最常见原因是染色体碎裂事件，该事件同时导致5号染色体长臂增加。已发现透明细胞肾细胞癌转移演变的特定模式。首个针对特定分子改变的疗法现已获批用于治疗尿路上皮癌。DNA损伤修复基因和转录因子HOXB13中的种系突变与前列腺癌相关，可能成为治疗靶点。在不同泌尿生殖系统癌症中发现的基因关联可为潜在的筛查方法提供信息，并指导新的靶向治疗策略。
