Mao L
Department of Thoracic/Head and Neck Medical Oncology, University of Texas M.D. Anderson Cancer Center, Houston 77030, USA.
J Cell Biochem Suppl. 1996;25:191-6.
Bladder cancer is the result of a clonal expansion of cancer cells in which multiple genetic alterations have accumulated. Point mutations of the p53 gene are frequently observed in bladder cancer. Loss of a retinoblastoma (Rb) allele is also common in bladder cancer. Recent data have shown frequent loss of heterozygosity (LOH) and homozygous deletion of 9p21, including the region of p16INK4A, a putative tumor suppressor gene, in bladder cancer. LOH is also observed frequently at several other chromosome regions in bladder cancer. These genetic changes have proved useful as clonal markers in the detection of cancer cells in urine. Because of their complexity, most molecular diagnostic approaches are not considered promising cancer screening tools in patients or high-risk populations. However, a new molecular approach, the examination of microsatellite alterations in bladder cancer and urine specimens, is a promising screening tool for the disease. The common genetic alterations in bladder cancer and their use as clonal markers in screening or diagnosis strategies will be discussed.
膀胱癌是癌细胞克隆性扩增的结果，在此过程中积累了多种基因改变。p53基因的点突变在膀胱癌中经常被观察到。视网膜母细胞瘤（Rb）等位基因的缺失在膀胱癌中也很常见。最近的数据显示，膀胱癌中9p21区域，包括假定的肿瘤抑制基因p16INK4A区域，经常发生杂合性缺失（LOH）和纯合性缺失。在膀胱癌的其他几个染色体区域也经常观察到LOH。这些基因变化已被证明可作为检测尿液中癌细胞的克隆标记。由于其复杂性，大多数分子诊断方法在患者或高危人群中不被认为是有前景的癌症筛查工具。然而，一种新的分子方法，即检测膀胱癌和尿液标本中的微卫星改变，是一种有前景的该疾病筛查工具。本文将讨论膀胱癌中常见的基因改变及其在筛查或诊断策略中作为克隆标记的应用。
