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两名患冯·希佩尔-林道病的非亲属患者,其中一人肾细胞腺瘤存在3号染色体短臂(3p)缺失(p13p21),另一人双侧肾细胞癌存在4号染色体短臂(4p)缺失(p14)。

del(3p)(p13p21) in renal cell adenoma and del(4p)(p14) in bilateral renal cell carcinoma in two unrelated patients with von Hippel-Lindau disease.

作者信息

Bergerheim U S, Frisk B, Stellan B, Collins V P, Zech L

机构信息

Ludwig Institute for Cancer Research, Stockholm, Sweden.

出版信息

Cancer Genet Cytogenet. 1990 Oct 1;49(1):125-31. doi: 10.1016/0165-4608(90)90173-8.

Abstract

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.

摘要

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。

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