DETECTION OF NUMERICAL AND STRUCTURAL CHROMOSOME-ABNORMALITIES IN PEDIATRIC GERM-CELL TUMORS BY MEANS OF INTERPHASE CYTOGENETICS
DETECTION OF NUMERICAL AND STRUCTURAL CHROMOSOME-ABNORMALITIES IN PEDIATRIC GERM-CELL TUMORS BY MEANS OF INTERPHASE CYTOGENETICS
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DOI：
10.1002/gcc.2870110107
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发表时间：
1994-09-01
影响因子：
3.7
通讯作者：
AMBROS, PF
中科院分区：
文献类型：
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作者：
STOCK, C;AMBROS, IM;AMBROS, PF
与成人睾丸生殖细胞肿瘤（GCT）的细胞遗传学特征相反，儿童GCT的细胞遗传学研究报告很少。成人GCT最常见的细胞遗传学改变是12号染色体i（12 p）和数目异常。我们进行了原位杂交（ISH）研究石蜡切片和13个儿童GCT的分离细胞核，特别强调那些染色体异常，是常见的成人GCT。这些包括染色体1和12的数量和结构异常以及染色体8，10，X和Y的数量偏差。研究的肿瘤的组织学子集包括两个无性细胞瘤（DGE），一个卵巢癌（SE），两个胚胎癌（EC），四个混合和两个纯卵黄囊瘤（YST），和一个未分化（IT）和一个分化畸胎瘤（TD）。与成人GCT相似，12号染色体的额外拷贝是最常见的数值异常。与成人GCT的结果相反，12号染色体着丝粒周围杂交信号的大小变化，表明i（12 p）染色体的存在，仅在两例中发现。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，1 p缺失和/或染色体数目的变化。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，并且是在两个病例中检测到的唯一异常。1 p36缺失存在于所有IV期EC和YST研究中，并且在相对良性的TD和一个YST 1期中不存在。因此，1 p36缺失可能作为儿童GCT的预后标志物具有价值。(C)1994 Wiley-Liss，Inc.
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, 1p deletions and/or numerical chromosome changes were present. Surprisingly, deletions of the short arm of chromosome 1, del(1)(p36.3), were frequent in pediatric GCT and were the sole abnormality detected in two cases. The 1p36 deletions were present in all stage-IV EC and YST investigated and were absent in the relatively benign TD and in one YST stage-1. Therefore, 1 p36 deletions may have value as a prognostic marker in pediatric GCT. (C) 1994 Wiley-Liss, Inc.