1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Pathol Res Pract. 2012 Oct 15;208(10):628-32. doi: 10.1016/j.prp.2012.07.006. Epub 2012 Aug 18.
Gonadoblastomas are unusual neoplasias that frequently appear in the dysgenetic gonads of women with chromosome Y anomaly. We present two cases of gonadoblastoma associated with complete gonadal dysgenesis and Turner syndrome, respectively, with dysgerminoma overgrowth found in one case. We were interested in the DNA ploidy, the presence of Y chromosome DNA sequence and the status of chromosome 12p arm among the tumor cells. We performed cytophotometry to analyze the DNA content and fluorescence in situ hybridization (FISH) to identify the Y chromosome and the isochromosome 12p within the tumor cells. The cytophotometric result showed diploid DNA content in gonadoblastoma, whereas dysgerminoma revealed aneuploid DNA. The FISH result revealed Y chromosome DNA sequence within gonadoblastoma and dysgerminoma. Isochromosome 12p was identified in dysgerminoma, but not in gonadoblastoma. We conclude that gonadoblastoma and dysgerminoma have a strong association with the Y chromosome, and dysgerminoma overgrowth is due to further chromosomal aberrations, such as isochromosome 12p. Histological, immunohistocheimcal and molecular studies should render the correct diagnosis. Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.
性腺母细胞瘤是一种不常见的肿瘤，常出现在性染色体 Y 异常的女性发育不良性腺中。我们报告两例与完全性腺发育不全和特纳综合征相关的性腺母细胞瘤，其中一例发现有生殖细胞瘤过度生长。我们对肿瘤细胞中的 DNA 倍体、Y 染色体 DNA 序列和 12p 臂染色体的状态感兴趣。我们进行细胞光度术分析 DNA 含量，荧光原位杂交（FISH）鉴定肿瘤细胞中的 Y 染色体和 12p 等臂染色体。细胞光度术结果显示性腺母细胞瘤中的 DNA 含量为二倍体，而生殖细胞瘤显示非整倍体 DNA。FISH 结果显示性腺母细胞瘤和生殖细胞瘤中存在 Y 染色体 DNA 序列。12p 等臂染色体仅在生殖细胞瘤中鉴定到，而在性腺母细胞瘤中未鉴定到。我们的结论是，性腺母细胞瘤和生殖细胞瘤与 Y 染色体有很强的关联，生殖细胞瘤过度生长是由于进一步的染色体异常，如 12p 等臂染色体。组织学、免疫组织化学和分子研究应做出正确的诊断。识别生殖细胞瘤过度生长至关重要，因为它与不良预后相关，需要额外的治疗。
