Fogt F, Zhuang Z, Linehan W M, Merino M J
University of Pennsylvania, Presbyterian Medical Center, Philadelphia, PA 19104, USA.
Oncol Rep. 1998 Jul-Aug;5(4):923-6. doi: 10.3892/or.5.4.923.
Origin of collecting duct carcinomas (CDC) of the kidney is not entirely known, although it is thought that they originate from the distal collecting duct system, whereas clear cell renal cell carcinoma (cRCC) may originate from the proximal tubular epithelium. In cRCC, the von Hippel Lindau gene (vHL) is damaged in almost 100% of cases; the frequency of vHL deletions in CDC is not known. Loss of heterozygosity (LOH) of CDC and cRCC of vHL (3p), p16 (9p), p53 (17p) and the retinoblastoma (RB) gene (13q) was studied to evaluate possible genetic differences between the two. LOH of the vHL was seen in 77.7% of cRCC and in 55% of CDC. P16 was lost in 33% of cRCC and in 50% of CDC. LOH in p53 was observed in 0/8 cases of cRCC compared to 18.7% in CDC. LOH in 13q was seen in 25% of both CDC and cRCC. The high LOH rate of the vHL gene in CDC has not been observed previously. The findings indicate that CDC and cRCC share certain genetic alterations, including frequent deletion of the vHL gene. CDC is not clearly related to cRCC but may be of heterogeneous origin.
肾集合管癌（CDC）的起源尚不完全清楚，不过人们认为它们起源于远端集合管系统，而透明细胞肾细胞癌（cRCC）可能起源于近端肾小管上皮。在cRCC中，几乎100%的病例中冯·希佩尔-林道基因（vHL）受损；CDC中vHL缺失的频率尚不清楚。研究了CDC和cRCC中vHL（3p）、p16（9p）、p53（17p）和视网膜母细胞瘤（RB）基因（13q）的杂合性缺失（LOH）情况，以评估两者之间可能存在的基因差异。在77.7%的cRCC和55%的CDC中观察到vHL的LOH。33%的cRCC和50%的CDC中出现p16缺失。cRCC的8例病例中0例观察到p53的LOH，而CDC中为18.7%。13q的LOH在CDC和cRCC中均为25%。此前未观察到CDC中vHL基因的高LOH率。研究结果表明，CDC和cRCC存在某些共同的基因改变，包括vHL基因的频繁缺失。CDC与cRCC没有明确关联，但可能起源于异质性。
