Zhao W P, Gnarra J R, Liu S, Knutsen T, Linehan W M, Whang-Peng J
Medicine Branch, National Institutes of Health, Bethesda, Maryland 20892, USA.
Cancer Genet Cytogenet. 1995 Jul 15;82(2):128-39. doi: 10.1016/0165-4608(95)00024-j.
Successful cytogenetic analysis was performed on 27 samples from 25 patients with RCC, including 7 of 11 tumors studied and 20 cell lines. Clonal chromosomal abnormalities were detected in all 27 samples. The most frequently involved chromosomes were 7, 1, 3, 9, and the Y (20, 17, 17, 14, and 10 cases, respectively). Polysomy 7 or rearrangement of 7q was seen in 80% (20/25) of the patients, and loss or rearrangement of 3p was seen in 48% (12/25); of the latter, four patients had loss of the whole chromosome and 10 patients had deletions or translocations involving 3p, with breakpoints at either 3p11-14 or 3p21-23 (5/7 translocation breakpoints were at 3p21-23). Loss of the sex chromosomes was seen in 15 patients, including -Y in 10/22 males. Other clonal changes included structural abnormalities of chromosome 1 centromere and the long arm, breakpoints at or near the centromere of chromosome 9 (10 patients), polysomy 16, monosomy 17, polysomy 20, and monosomy 22. With the exception of chromosome 3p loss, which was primarily confined to the nonpapillary cases, no specific clonal abnormality was noted for any particular subtype of RCC. Trisomy or tetrasomy 7 and -Y were seen in all subtypes of renal cell carcinoma.
对25例肾细胞癌患者的27份样本进行了成功的细胞遗传学分析，其中包括11个研究肿瘤中的7个以及20个细胞系。在所有27份样本中均检测到克隆性染色体异常。最常受累的染色体是7号、1号、3号、9号和Y染色体（分别为20例、17例、17例、14例和10例）。80%（20/25）的患者出现7号染色体多体或7q重排，48%（12/25）的患者出现3p缺失或重排；在后者中，4例患者整条染色体缺失，10例患者存在涉及3p的缺失或易位，断点位于3p11 - 14或3p21 - 23（5/7的易位断点位于3p21 - 23）。15例患者出现性染色体缺失，其中10/22例男性患者出现-Y。其他克隆性改变包括1号染色体着丝粒和长臂的结构异常、9号染色体着丝粒或其附近的断点（10例患者）、16号染色体多体、17号染色体单体、20号染色体多体和22号染色体单体。除了3p缺失主要局限于非乳头状病例外，未发现肾细胞癌任何特定亚型有特定的克隆性异常。肾细胞癌的所有亚型均可见7号染色体三体或四体以及-Y。
