Perlman E J, Cushing B, Hawkins E, Griffin C A
Johns Hopkins Medical Institutions, Baltimore, Maryland.
Pediatr Pathol. 1994 Jul-Aug;14(4):695-708. doi: 10.3109/15513819409023342.
Most adult germ cell tumors have a consistent cytogenetic abnormality, i(12p), and are aneuploid. Many pediatric germ cell tumors are biologically distinct from their adult counterparts, particularly endodermal sinus tumors (ESTs) of young children. We report cytogenetic and ploidy analysis of nine ESTs involving children under 3 years of age (four extragonadal and five testicular). Structural abnormalities were present in seven tumors and were identifiable in six: 5/6 had a structural abnormality of chromosome 1, usually terminal deletion of 1p; 5/6 showed 6q deletion; 3/6 had structural abnormalities of 3p; 2/6 showed abnormalities of chromosome 2. None showed an i(12p) or abnormality of chromosome 12. Ploidy analysis of the tumors correlated with the cytogenetic analysis; in particular, the tumor that was cytogenetically normal showed no aneuploid peaks. To determine if a marker chromosome was derived from chromosome 12 or if karyotypically normal cases included nondividing tumor cells, interphase fluorescence in situ hybridization using an alpha satellite probe for chromosome 12 was performed. These studies showed no evidence of an i(12p). We conclude that ESTs in young children show cytogenetic differences from their adult counterparts and that loci on 1p, 6q, and 3q need to be further studied.
大多数成人生殖细胞肿瘤具有一致的细胞遗传学异常，即i(12p)，并且为非整倍体。许多儿童生殖细胞肿瘤在生物学上与其成人对应物不同，尤其是幼儿的内胚窦瘤（ESTs）。我们报告了对9例3岁以下儿童ESTs（4例性腺外和5例睾丸）的细胞遗传学和倍性分析。7例肿瘤存在结构异常，其中6例可识别：6例中有5例存在1号染色体结构异常，通常为1p末端缺失；6例中有5例显示6q缺失；6例中有3例存在3p结构异常；6例中有2例显示2号染色体异常。无一例显示i(12p)或12号染色体异常。肿瘤的倍性分析与细胞遗传学分析相关；特别是，细胞遗传学正常的肿瘤未显示非整倍体峰。为了确定标记染色体是否源自12号染色体，或者核型正常的病例是否包括不分裂的肿瘤细胞，使用12号染色体的α卫星探针进行了间期荧光原位杂交。这些研究未显示i(12p)的证据。我们得出结论，幼儿的ESTs在细胞遗传学上与其成人对应物不同，并且1p、6q和3q上的基因座需要进一步研究。
