Pathak S, Strong L C, Ferrell R E, Trindade A
Science. 1982 Sep 3;217(4563):939-41. doi: 10.1126/science.7112106.
Cytogenic studies were performed on the direct chromosome preparations of the renal cell carcinoma cells and the cultured peripheral blood lymphocytes of a patient with familial renal cell carcinoma. The results revealed a specific, acquired translocations (3p;11p) present in the majority of metaphases of the tumor, indicating that the development of renal cell carcinoma is associated with a deletion in the proximal end of 3p. Renal cell carcinoma is thus the third example--the first two being retinoblastoma and Wilms' tumor--of a chromosomal deletion occurring germinally or somatically in association with a specific tumor. This finding adds further support to the existence of specific human cancer genes.
对一名家族性肾细胞癌患者的肾癌细胞直接染色体标本和培养的外周血淋巴细胞进行了细胞遗传学研究。结果显示，在肿瘤的大多数中期相中存在一种特定的、后天获得的易位（3p；11p），这表明肾细胞癌的发生与3p近端的缺失有关。因此，肾细胞癌是第三个例子——前两个是视网膜母细胞瘤和威尔姆斯瘤——即一种在生殖系或体细胞中发生的与特定肿瘤相关的染色体缺失。这一发现进一步支持了特定人类癌症基因的存在。
