Lindgren Valerie, Paner Gladell P, Omeroglu Atilla, Campbell Steven C, Waters W Bedford, Flanigan Robert C, Picken Maria M
Department of Pathology, University of Illinois at Chicago, 60612, USA.
J Urol. 2004 Feb;171(2 Pt 1):602-4. doi: 10.1097/01.ju.0000109172.07081.16.
Only about 50 renal oncocytomas have been studied cytogenetically. They fall into 3 categories, namely 1-normal karyotype, 2-monosomy 1, often with Y chromosome loss, and 3-structural abnormalities of 11q13. Additional abnormalities may occur with transformation to chromophobe renal cell carcinoma, although exactly which one is unclear. We expanded the oncocytoma data base to shed light on changes that characterize transformation.
A total of 14 oncocytomas from 12 patients were collected in 2(1/2) years. One tumor failed to grow but 13 were successfully karyotyped.
Seven tumors (53.8%), including 2 from 1 kidney, had normal karyotypes or abnormalities characteristic of normal kidney tissue. A total of 6 tumors from 5 individuals (46.2%) had chromosome 1 abnormalities. Monosomy 1 was detected in 2 single tumors and in both tumors in a bilateral case. Structural anomalies resulting in loss of the short arm of chromosome 1 were found in an additional 2 patients. Other abnormalities, including Y chromosome loss and monosomy 14, were observed but no abnormalities of 11q13 were seen.
Our series confirms that 1p loss is the most common anomaly in oncocytoma. Additional studies are required to understand the transformation potential of this usually benign tumor, identify the putative 1p tumor suppressor gene and determine whether karyotypically normal tumors have molecular abnormalities of 1p.
仅有约50例肾嗜酸细胞瘤进行了细胞遗传学研究。它们分为3类,即1 - 核型正常;2 - 1号染色体单体,常伴有Y染色体缺失;3 - 11q13结构异常。向嫌色性肾细胞癌转变时可能会出现其他异常,不过具体是哪些异常尚不清楚。我们扩充了嗜酸细胞瘤数据库,以阐明表征转变的变化。
在2年半的时间里收集了12例患者的14个嗜酸细胞瘤。1个肿瘤未能生长,但13个成功进行了核型分析。
7个肿瘤(53.8%),包括来自1个肾脏的2个肿瘤,核型正常或具有正常肾组织特征性的异常。来自5名个体的总共6个肿瘤(46.2%)有1号染色体异常。在2个单发肿瘤以及1例双侧肿瘤的两个肿瘤中均检测到1号染色体单体。另外2例患者发现了导致1号染色体短臂缺失的结构异常。还观察到其他异常,包括Y染色体缺失和14号染色体单体,但未见到11q13异常。
我们的系列研究证实1p缺失是嗜酸细胞瘤中最常见的异常。需要进一步研究以了解这种通常为良性肿瘤的转变潜能,确定假定的1p肿瘤抑制基因,并确定核型正常的肿瘤是否存在1p分子异常。