Miles J, Michalski K, Kouba M, Weaver D J
Department of Child Health and Pathology, University of Missouri Health Sciences Center, Columbia.
Cancer Genet Cytogenet. 1988 Aug;34(1):135-42. doi: 10.1016/0165-4608(88)90180-x.
Using a newly developed combined method of enzymatic technique and short-term tissue culture, 30 tumor specimens from 26 patients with nonfamilial renal cell carcinoma were subjected to cytogenetic analysis. Of the 26 patients, 19 had chromosomally abnormal tumors, four (including two oncocytomas) were normal, and three did not grow. The modal chromosome numbers ranged from 44 to 98 (including two pseudotetraploids). Banding analysis revealed 38 clonal aberrations and ten nonclonal aberrations. Abnormalities were of structure and number. The most consistent clonal abnormality was a trisomy or tetrasomy chromosome 7 occurring in tumors from 15 of the 19 patients with cytogenetically abnormal tumors. In four cases, trisomy 7 was the only visible abnormality observed, and in an additional five it was the only abnormality in two or more cells. An abnormal chromosome 3 was found in ten (38%) of the cases. Two were trisomic for #3, two were monosomic, three were hyperdiploid, and three had interstitial deletions with breakpoints clustered from p11 to p25. In only one case was a deleted #3 the only abnormality observed in a clone of cells. Loss of the sex chromosome was seen in eight (35%) of the 23 chromosomally abnormal cases including all four (100%) patients with bilateral disease. One of the patients with bilateral disease had an abnormal clone with monosomy X as the only abnormality. These data suggest that trisomy or tetrasomy 7 more often represents the specific primary abnormality than abnormalities of either chromosome 3 or the sex chromosomes. From this, a model of chromosomal progression may be constructed for nonfamilial renal cell carcinoma, which could assist in pathologic classification and prognostic and therapeutic considerations.
采用一种新开发的酶技术与短期组织培养相结合的方法，对26例非家族性肾细胞癌患者的30个肿瘤标本进行了细胞遗传学分析。在这26例患者中，19例肿瘤染色体异常，4例（包括2例嗜酸细胞瘤）正常，3例未生长。众数染色体数范围为44至98（包括2个假四倍体）。染色体显带分析发现38个克隆性畸变和10个非克隆性畸变。异常包括结构和数量方面。最一致的克隆性异常是19例细胞遗传学异常肿瘤患者中的15例肿瘤出现7号染色体三体或四体。在4例中，7号染色体三体是唯一可见的异常，另外5例中，它是两个或更多细胞中的唯一异常。在10例（38%）病例中发现3号染色体异常。2例为3号染色体三体，2例为单体，3例为超二倍体，3例有间质缺失，断点集中在p11至p25。仅在1例中，缺失的3号染色体是细胞克隆中唯一观察到的异常。在23例染色体异常病例中的8例（35%）出现性染色体丢失，包括所有4例（100%）双侧病变患者。其中1例双侧病变患者有一个异常克隆，唯一异常为X染色体单体。这些数据表明，7号染色体三体或四体比3号染色体或性染色体异常更常代表特定的原发性异常。据此，可以构建非家族性肾细胞癌的染色体进展模型，这有助于病理分类以及预后和治疗考量。
