Looijenga L H, Oosterhuis J W
Laboratory for Experimental Patho-Oncology, Daniel den Hoed Cancer Center/Pathology, University Hospital Rotterdam, Josephine Nefkens Institute, The Netherlands.
Rev Reprod. 1999 May;4(2):90-100. doi: 10.1530/ror.0.0040090.
Human germ cell tumours comprise a heterogeneous group of neoplasms. In the testis, three entities are distinguished, the teratomas-yolk sac tumours of the infantile testis, the seminomas and nonseminomas of adolescents and adults, and the spermatocytic seminomas. Studies on epidemiology, histology, clinical behaviour, and chromosomal constitution of these tumours support the concept of distinct entities derived from germ cells but each with a different pathogenesis. Either the teratomas of the infantile testis show no chromosomal aberrations, or display a pattern of over- and under-representation of (parts of) chromosomes as detected in the yolk sac tumours of the infantile testis. In contrast, the seminomas and nonseminomas reveal a consistent pattern of losses and gains, that is, chromosomes 11, 13 and 18, and 7, 8 and X, respectively, that is different from that found in the infantile testis teratomas and yolk sac tumours. The most consistent structural chromosomal abnormality is an isochromosome 12p. Tumours lacking i(12p) have other structural abnormalities of 12p, among them amplification of 12p11.2-p12.1. The pathogenetically relevant genes on 12p11.2-p12.1 are probably on a fragment of about 1.7 mb. Gain of 12p sequences may be related to invasive growth. Gain of chromosome 9 is the only consistent chromosomal anomaly of spermatocytic seminomas. Infantile teratomas and spermatocytic seminomas are benign tumours. Infantile yolk sac tumour is a malignant germ cell tumour. Seminomas and nonseminomas are malignant, and the most common cancer in young Caucasian males. The cure rate of seminomas and non-seminomas with radio- and chemotherapy is over 90%, which is higher than that of any other solid cancer in adults. In addition, the precursor lesions of these tumours can be treated readily, justifying efforts to develop means for early diagnosis. Finally, the pathogenetic relationship between seminomas and nonseminomas, and the available animal models for the three groups of testicular germ cell tumours are discussed.
人类生殖细胞肿瘤是一组异质性肿瘤。在睾丸中，可区分出三种类型，即婴幼儿睾丸的畸胎瘤-卵黄囊瘤、青少年及成人的精原细胞瘤和非精原细胞瘤，以及精母细胞性精原细胞瘤。对这些肿瘤的流行病学、组织学、临床行为和染色体构成的研究支持了源自生殖细胞但发病机制各异的不同实体的概念。婴幼儿睾丸畸胎瘤要么没有染色体畸变，要么呈现出在婴幼儿睾丸卵黄囊瘤中检测到的（部分）染色体增减模式。相比之下，精原细胞瘤和非精原细胞瘤显示出一致的缺失和增加模式，即分别为染色体11、13和18，以及7、8和X，这与婴幼儿睾丸畸胎瘤和卵黄囊瘤中发现的模式不同。最一致的染色体结构异常是等臂染色体12p。缺乏i(12p)的肿瘤有12p的其他结构异常，其中包括12p11.2-p12.1的扩增。12p11.2-p12.1上与发病机制相关的基因可能位于约1.7 Mb的片段上。12p序列的增加可能与侵袭性生长有关。染色体9的增加是精母细胞性精原细胞瘤唯一一致的染色体异常。婴幼儿畸胎瘤和精母细胞性精原细胞瘤是良性肿瘤。婴幼儿卵黄囊瘤是恶性生殖细胞肿瘤。精原细胞瘤和非精原细胞瘤是恶性的，是年轻白种男性中最常见的癌症。精原细胞瘤和非精原细胞瘤经放疗和化疗后的治愈率超过90%，高于成人中的任何其他实体癌。此外，这些肿瘤的前驱病变易于治疗，这为开发早期诊断方法的努力提供了依据。最后，讨论了精原细胞瘤和非精原细胞瘤之间的发病机制关系，以及三组睾丸生殖细胞肿瘤可用的动物模型。
