Chaganti R S, Rodriguez E, Bosl G J
Cell Biology & Genetics Program, Sloan-Kettering Institute, New York, New York.
Urol Clin North Am. 1993 Feb;20(1):55-66.
Although the biologic significance of germ-cell tumors to the study of malignancy and differentiation has been well recognized for some time, detailed genetic analysis based on fresh tumor biopsies has not been initiated until recently. The first stage of such studies, as with other, more extensively investigated, tumor systems, has been cytogenetic analysis. To date, cytogenetic data on close to 200 tumors are available, which have already yielded valuable insights into the biology of these tumors, as well as a clinically useful marker. Thus, initial correlations between chromosome change and histologic type have been recorded, gene amplification associated with malignant progression has been identified, the cytogenetic basis of malignant differentiation in teratomatous lesions has been clarified, and sites of candidate tumor suppressor genes unique to this system have been identified. The usefulness of i(12p) as a diagnostic marker, especially in tumors of uncertain histologic type, has been established. Because of the clinical usefulness of this marker, molecularly based methods for its detection, without the need for formal cytogenetic analysis, have been developed. Cytogenetic analysis of larger prospectively ascertained series than have been studied so far and analysis of large numbers of tumors utilizing molecular techniques can be expected to yield significant insights into the biology and clinical behavior of these tumors.
尽管生殖细胞肿瘤对于恶性肿瘤和分化研究的生物学意义在一段时间以来已得到充分认识，但基于新鲜肿瘤活检的详细基因分析直到最近才开始。与其他研究更为广泛的肿瘤系统一样，此类研究的第一阶段是细胞遗传学分析。迄今为止，已有近200例肿瘤的细胞遗传学数据，这些数据已经为这些肿瘤的生物学特性以及一种临床有用的标志物提供了有价值的见解。因此，已经记录了染色体变化与组织学类型之间的初步相关性，确定了与恶性进展相关的基因扩增，阐明了畸胎瘤病变中恶性分化的细胞遗传学基础，并确定了该系统特有的候选肿瘤抑制基因位点。已证实i(12p)作为一种诊断标志物的有用性，尤其是在组织学类型不确定的肿瘤中。由于该标志物具有临床实用性，因此已经开发出无需进行正式细胞遗传学分析即可检测它的分子方法。预计对比迄今所研究的更大的前瞻性确定系列进行细胞遗传学分析以及利用分子技术对大量肿瘤进行分析，将能对这些肿瘤的生物学特性和临床行为产生重大见解。
