SPECIFIC CHROMOSOME ABERRATION IN HUMAN RENAL-CELL CARCINOMA
SPECIFIC CHROMOSOME ABERRATION IN HUMAN RENAL-CELL CARCINOMA
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DOI：
10.1002/ijc.2910400208
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发表时间：
1987-08-15
影响因子：
6.4
通讯作者：
BAUMGARTEL, H
中科院分区：
文献类型：
--
作者：
KOVACS, G;SZUCS, S;BAUMGARTEL, H
本文应用G显带技术对25例肾细胞癌（RCC）短期培养标本的染色体进行了研究。分析了在原代培养物中生长的相同患者的植物血凝素刺激的外周血淋巴细胞或正常肾细胞，以确定组成核型。23例RCC的众数为假二倍体或近二倍体，仅有少量结构重排，其中22例RCC的3号染色体畸变，3 p缺失，或不同染色体片段易位到缺失的3号染色体上，导致3号染色体可变片段丢失。3号染色体重排的断裂点聚集在3pII.2-p13区域。最短区域重叠分析定位一致的变化到一个小面积的3 p13-pter。在25个RCC中的8个中，3号染色体重排是确定的唯一核型变化，并且除了3号染色体畸变之外，其他4个肿瘤仅具有一个染色体重排。这些结果表明，3号染色体的畸变是RCC克隆进化的第一个细胞遗传学事件。易位3;5优先参与3 p染色体与其他染色体之间的重排。3号染色体上的断裂点恒定在-13处，但5号染色体上的断裂点在q11.2和q22带之间变化。14例肿瘤中10例为14号单体，6例为Y染色体缺失。由于正常的体细胞没有染色体畸变，因此可以得出结论，3 p13-pter片段的缺失是一种获得性的、一致的染色体畸变，标志着人类RCC。
Using G-banding technique, the chromosomes were studied in short-term cultures of 25 primary renal-cell carcinomas (RCC). Phytohaemagglutinin-stimulated peripheral blood lymphocytes or normal kidney cells of the same patients growing in primary cultures were analyzed to define the constitutional karyotype. The modal chromosome number of 23 RCC''s was found to be pseudo-diploid or near-diploid with only few structural rearrangements, 22 of the RCC''s showed an aberration of chromosome 3, deletion of 3p, or translocation of different chromosome segments to the deleted chromosome 3, leading to the loss of variable segments of chromosome 3. The breakpoints in rearrangements of chromosome 3 clustered in the region 3pII.2-p13. Shortest-region overlap analysis localized a consistent change to a small area of 3p13-pter. In 8 of the 25 RCCs, the rearrangement of chromosome 3 was the only karyotype change determined, and 4 other tumours had only one chromosomal rearrangement in addition to the aberration of chromosome 3. These results suggest that the aberration of chromosome 3 is the first cytogenetic event in the clonal evolution of RCCs. Translocation 3;5 was preferentially involved in the rearrangements between chromosome 3p and other chromosomes. The breakpoint on chromosome 3 was constant at -13, but the breaks on chromosome 5 varied between bands q11.2 and q22. Monosomy 14 was observed in 10 cases and loss of Y chromosome was detected in 6 of 14 tumours obtained from male patients. Since the normal somatic cells were free of chromosomal aberrations, one may conclude that the loss of 3p13-pter segment is an acquired, consistent chromosomal aberration which marks human RCCs.