Zbar B, Brauch H, Talmadge C, Linehan M
Nature. 1987;327(6124):721-4. doi: 10.1038/327721a0.
Loss of genes at specific chromosomal loci is a characteristic of retinoblastoma, Wilms' tumour, transitional cell carcinoma of the bladder, embryonal tumours and small cell carcinoma of the lung. The significance of nonrandom gene loss in these neoplasms is that gene loss on one chromosome may uncover null mutations at corresponding loci of the homologous chromosome. Loss of specific gene products from somatic cells may be critical in the origin or evolution of certain human tumours. Clues to identification of new loci of gene loss in common adult solid tumours may be found in literature that describes chromosomal abnormalities in rare heritable cancers. Karyotypes of tumours in two families with hereditary renal carcinoma showed translocations involving the short arm of chromosome 3 (refs 10 and 11). We have examined tumours from 18 patients with non-hereditary renal cell carcinomas and found loss of alleles at loci on the short arm of chromosome 3 in all eleven of the patients who could be evaluated.
特定染色体位点的基因缺失是视网膜母细胞瘤、肾母细胞瘤、膀胱移行细胞癌、胚胎性肿瘤和肺小细胞癌的特征。这些肿瘤中非随机基因缺失的意义在于,一条染色体上的基因缺失可能会暴露同源染色体相应位点的无效突变。体细胞中特定基因产物的缺失在某些人类肿瘤的发生或演变中可能至关重要。在描述罕见遗传性癌症染色体异常的文献中,可能会找到识别常见成人实体瘤新基因缺失位点的线索。两个遗传性肾癌家族肿瘤的核型显示涉及3号染色体短臂的易位(参考文献10和11)。我们检查了18例非遗传性肾细胞癌患者的肿瘤,发现11例可评估患者的3号染色体短臂位点存在等位基因缺失。