Schoenberg M, Cairns P, Brooks J D, Marshall F F, Epstein J I, Isaacs W B, Sidransky D
Department of Urology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2101.
Genes Chromosomes Cancer. 1995 Jan;12(1):76-80. doi: 10.1002/gcc.2870120115.
Collecting duct carcinoma (CDC) is a malignant renal neoplasm that is believed to arise from the epithelium of the ducts of Bellini in the distal nephron. These tumors are clinically aggressive and more often occur in a younger population than is typical of the more common clear cell renal carcinoma (RCC). Using highly informative polymorphic microsatellite markers on chromosome arms 3p, 5q, 6q, 9p, 9q, 11p, 13q, 17p, and 18q, we analyzed DNA from nonmalignant and tumor tissue in 6 cases of CDC. We found no evidence of 3p loss of heterozygosity (LOH) in these renal tumors by using multiple markers, a finding that distinguishes CDC from RCC in which 3p LOH has frequently been observed. We found LOH of 8p in 50% of the tumors examined; in addition, we observed LOH of 13q in 50% of the tumors studied. Interestingly, 8p LOH may be associated with high stage and poor clinical prognosis. These data suggest that the molecular events responsible for the development of CDC differ from those associated with the origin of RCC, and that tumor suppressor genes on 8p and 13q may be involved in the pathogenesis of CDC.
集合管癌（CDC）是一种恶性肾肿瘤，被认为起源于远端肾单位的贝氏管上皮。这些肿瘤在临床上具有侵袭性，且相较于更常见的透明细胞肾癌（RCC），更常发生于较年轻的人群。我们使用位于3号染色体短臂、5号染色体长臂、6号染色体长臂、9号染色体短臂、9号染色体长臂、11号染色体短臂、13号染色体长臂、17号染色体短臂和18号染色体长臂上的高信息量多态性微卫星标记，分析了6例集合管癌非恶性组织和肿瘤组织的DNA。通过使用多个标记，我们在这些肾肿瘤中未发现3号染色体杂合性缺失（LOH）的证据，这一发现将集合管癌与经常观察到3号染色体LOH的透明细胞肾癌区分开来。我们在所检测的50%的肿瘤中发现了8号染色体短臂的LOH；此外，我们在50%的研究肿瘤中观察到了13号染色体长臂的LOH。有趣的是，8号染色体短臂的LOH可能与高分期和不良临床预后相关。这些数据表明，导致集合管癌发生的分子事件与透明细胞肾癌起源相关的分子事件不同，并且8号染色体短臂和13号染色体长臂上的肿瘤抑制基因可能参与了集合管癌的发病机制。
