Heimdal K, Fosså S D
Department of Genetics, Norwegian Radium Hospital, Oslo.
World J Urol. 1994;12(4):178-81. doi: 10.1007/BF00185667.
The etiology of germ-cell tumors is largely unknown. A history of undescended testis is the major known risk factor. Epidemiology studies have established the importance of (unknown) environmental factors probably operating very early in life. However, there are large differences in incidence in different populations and races. Familial cases and patients with bilateral cancer have been described, and the incidence is greatly increased in individuals with certain malformations of the urogenital system. The latter observations point to a genetic component in the disease's etiology. In most germ-cell tumors an isochromosome of the short arm of chromosome 12, i(12p), can be demonstrated. This highly characteristic cytogenetic aberration can be diagnostic of germ-cell tumors and may have prognostic importance. This article summarizes the current knowledge about and ongoing research on genes involved in the development of germ-cell tumors.
生殖细胞肿瘤的病因在很大程度上尚不清楚。隐睾病史是已知的主要危险因素。流行病学研究已证实（未知的）环境因素可能在生命早期就发挥作用。然而，不同人群和种族的发病率存在很大差异。已有家族性病例和双侧癌症患者的报道，并且在患有某些泌尿生殖系统畸形的个体中发病率大幅增加。后一种观察结果表明该疾病的病因中有遗传因素。在大多数生殖细胞肿瘤中，可以检测到12号染色体短臂的等臂染色体，即i(12p)。这种高度特征性的细胞遗传学异常可用于诊断生殖细胞肿瘤，并且可能具有预后意义。本文总结了目前关于参与生殖细胞肿瘤发生发展的基因的知识以及正在进行的研究。
