Stock C, Ambros I M, Lion T, Haas O A, Zoubek A, Gadner H, Ambros P F
CCRI, Children's Cancer Research Institute, St. Anna Kinderspital, Vienna, Austria.
Genes Chromosomes Cancer. 1994 Sep;11(1):40-50. doi: 10.1002/gcc.2870110107.
In contrast to the cytogenetically well characterized testicular germ cell tumors (GCT) in adults, reports on cytogenetic studies in pediatric GCT are scarce. The presence of an i(12p) and numerical abnormalities involving chromosome 12 are the most frequent cytogenetic changes in GCT of adults. We have performed in situ hybridization (ISH) studies on paraffin sections and on isolated nuclei of 13 pediatric GCT with particular emphasis on those chromosome abnormalities that are common in adult GCT. These include numerical and structural abnormalities of chromosomes 1 and 12 as well as numerical deviations of chromosomes 8, 10, X, and Y. The histological subsets of the tumors investigated included two dysgerminomas (DGE), one seminoma (SE), two embryonal carcinomas (EC), four mixed and two pure yolk sac tumors (YST), and one undifferentiated (IT) and one differentiated teratoma (TD). Similar to the GCT in adults, additional copies of chromosome 12 were the most frequently observed numerical abnormalities. In contrast to the findings in adult GCT, changes in the size of the pericentromeric hybridization signals of chromosome 12, suggesting the presence of i(12p) chromosomes, were found in only two cases. No chromosome abnormalities were found in the pure TD or in the TD cells of mixed tumors containing a YST component. In the YST portion, however, Ip deletions and/or numerical chromosome changes were present. Surprisingly, deletions of the short arm of chromosome I, del(I)(p36.3), were frequent in pediatric GCT and were the sole abnormality detected in two cases. The Ip36 deletions were present in all stage-IV EC and YST investigated and were absent in the relatively benign TD and in one YST stage-I. Therefore, Ip36 deletions may have value as a prognostic marker in pediatric GCT.
与成人睾丸生殖细胞肿瘤（GCT）细胞遗传学特征明确不同，关于儿童GCT细胞遗传学研究的报道很少。i(12p)的存在以及涉及12号染色体的数目异常是成人GCT中最常见的细胞遗传学改变。我们对13例儿童GCT的石蜡切片和分离细胞核进行了原位杂交（ISH）研究，特别关注成人GCT中常见的染色体异常。这些异常包括1号和12号染色体的数目和结构异常，以及8号、10号、X和Y染色体的数目偏差。所研究肿瘤的组织学亚型包括2例未成熟畸胎瘤（DGE）、1例精原细胞瘤（SE）、2例胚胎癌（EC）、4例混合性和2例纯卵黄囊瘤（YST），以及1例未分化（IT）和1例分化型畸胎瘤（TD）。与成人GCT相似，12号染色体额外拷贝是最常观察到的数目异常。与成人GCT的结果相反，仅在2例中发现12号染色体着丝粒周围杂交信号大小改变，提示存在i(12p)染色体。在纯TD或含有YST成分的混合肿瘤的TD细胞中未发现染色体异常。然而，在YST部分存在1p缺失和/或染色体数目改变。令人惊讶的是，1号染色体短臂缺失del(1)(p36.3)在儿童GCT中很常见，并且在2例中是唯一检测到的异常。1p36缺失存在于所有研究的IV期EC和YST中，而在相对良性的TD和1例I期YST中不存在。因此，1p36缺失可能作为儿童GCT的预后标志物。
