Veltman Imke M, Schepens Marga T, Looijenga Leendert H J, Strong Louise C, van Kessel Ad Geurts
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
APMIS. 2003 Jan;111(1):152-60; discussion 160. doi: 10.1034/j.1600-0463.2003.1110119_1.x.
Human germ cell tumours (GCTs) constitute a heterogeneous group of tumours that can be classified into four major subgroups. One of these subgroups encompasses (immature) teratomas and yolk sac tumours of patients under the age of 5 years. In this paper we review the various clinical, histological and cytogenetical aspects of these infantile GCTs. The primordial germ cell (PGC) has been suggested to be the cell of origin for GCTs. Infantile GCTs, however, have been suggested to originate from PGCs at a different stage of maturation than adult GCTs. The cytogenetic constitution of infantile GCTs also appears to differ from the adult GCTs and includes recurrent losses of lp and 6q. Recently, two cases of infantile GCT were detected with constitutional 12q13 translocations. These exceptional cases may be instrumental in the search for candidate genes related to infantile and/or adult GCT development.
人类生殖细胞肿瘤(GCTs)是一组异质性肿瘤,可分为四个主要亚组。其中一个亚组包括5岁以下患者的(不成熟)畸胎瘤和卵黄囊瘤。在本文中,我们综述了这些婴儿期GCTs的各种临床、组织学和细胞遗传学方面。有人提出原始生殖细胞(PGC)是GCTs的起源细胞。然而,有人认为婴儿期GCTs起源于与成人GCTs成熟阶段不同的PGC。婴儿期GCTs的细胞遗传学构成似乎也与成人GCTs不同,包括1p和6q的反复缺失。最近,检测到两例婴儿期GCTs伴有12q13染色体结构异常。这些特殊病例可能有助于寻找与婴儿期和/或成人GCTs发育相关的候选基因。