Shipman R, Schraml P, Colombi M, Raefle G, Ludwig C U
Zentrum für Lehre und Forschung, Kantonsspital Basel, Switzerland.
Hum Genet. 1993 Jun;91(5):455-8. doi: 10.1007/BF00217771.
Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the role that deletion or inactivation of putative tumour suppressor genes might play in the genesis of bladder cancer has not been established. In this study, allelic deletion analysis on the short arm of chromosome 17 of patients with primary bladder tumours failed to show deletion at 17p13 (0/7), a region known to contain the p53 tumour suppressor gene. Chromosome 11p15 showed allelic deletion at the IGF2 locus (2/7: 29%) and the PTH locus (1/11: 9%). However, no deletion was observed at the CALCA locus (0/6). LOH at 11p13, a region containing the Wilm's tumour suppressor gene (WT1), was also studied. Analysis of LOH at 11p13 showed deletion at the CAT locus (13/18: 72%), the delta J/D11S414 locus (5/15: 33%), the WT1 locus (7/14: 50%) and the FSHB locus (6/16: 38%). The significance of these findings is discussed.
尽管膀胱癌的发生很常见,但其发病机制背后的分子事件仍不清楚。特定染色体位点的杂合性缺失(LOH)可能使个体易患膀胱癌,但尚未对此进行详细研究。此外,假定的肿瘤抑制基因的缺失或失活在膀胱癌发生中可能起的作用尚未确定。在本研究中,对原发性膀胱肿瘤患者17号染色体短臂进行的等位基因缺失分析未显示17p13(0/7)区域存在缺失,该区域已知包含p53肿瘤抑制基因。11号染色体p15在IGF2位点(2/7:29%)和PTH位点(1/11:9%)显示等位基因缺失。然而,在CALCA位点未观察到缺失(0/6)。还研究了11p13区域(包含威尔姆斯肿瘤抑制基因(WT1))的杂合性缺失。11p13杂合性缺失分析显示在CAT位点(13/18:72%)、δJ/D11S414位点(5/15:33%)、WT1位点(7/14:50%)和FSHB位点(6/16:38%)存在缺失。讨论了这些发现的意义。