Bergerheim U S, Frisk B, Stellan B, Collins V P, Zech L
Ludwig Institute for Cancer Research, Stockholm, Sweden.
Cancer Genet Cytogenet. 1990 Oct 1;49(1):125-31. doi: 10.1016/0165-4608(90)90173-8.
Karyotype analyses of renal cell adenoma in one patient and bilateral renal cell carcinomas (RCC) in another unrelated patient have been performed. Both patients belonged to families with von Hippel-Lindau disease (vHL). In the adenoma, we found a clonal del(3)(p13p21) and a small clone of two cells with an additional del(14)(q13). This result indicates that the same region that is often deleted in RCC may also be deleted in a renal cortical adenoma. This finding may facilitate the localization of a tentative renal cell adenoma/carcinoma tumor suppressor locus. In the tumors from the patient with bilateral carcinomas we found a clonal del(4)(p14) on one side and on the other a del(4)(p14) together with del(14)(q13). In this case, there was no detectable 3p defect in the tumors. This result raises the question whether an alternative/additional locus on chromosome 4p may be involved in the RCC/vHL syndrome. Constitutional karyotypes were in both cases normal.
对一名患者的肾细胞腺瘤以及另一名无关患者的双侧肾细胞癌(RCC)进行了核型分析。两名患者均来自患有冯·希佩尔-林道病(vHL)的家族。在腺瘤中,我们发现了一个克隆性的del(3)(p13p21)以及一个由两个细胞组成的小克隆,伴有额外的del(14)(q13)。这一结果表明,在肾细胞癌中经常缺失的同一区域在肾皮质腺瘤中也可能被缺失。这一发现可能有助于确定一个暂定的肾细胞腺瘤/癌肿瘤抑制基因座的定位。在双侧癌患者的肿瘤中,我们在一侧发现了一个克隆性的del(4)(p14),在另一侧发现了del(4)(p14)以及del(14)(q13)。在这种情况下,肿瘤中未检测到3p缺陷。这一结果提出了一个问题,即4号染色体短臂上的一个替代/额外基因座是否可能与肾细胞癌/vHL综合征有关。两名患者的染色体核型均正常。