Devouassoux-Shisheboran M, Vortmeyer A O, Silver S A, Zhuang Z, Tavassoli F A
Department of Gynecologic and Breast Pathology, Armed Forces Institute of Pathology, Washington, DC, USA.
Lab Invest. 2000 Jan;80(1):81-6. doi: 10.1038/labinvest.3780011.
Originating from post-meiotic germ cells, mature ovarian teratomas (MOT) are genetically homozygous tumors within heterozygous hosts. MOT may be associated with malignant tumors of a non-germ cell phenotype (so-called malignant transformation). Based on the presence of in situ changes, some cases have been hypothesized to arise from teratomatous tissue. However, other malignancies associated with mature teratomas, such as sarcomas, may originate from either teratomatous elements or preexisting somatic ovarian tissue. Eight cases of MOT containing various histologic types of malignancy, including four squamous cell carcinomas, two sarcomas, one thyroid carcinoma, and one carcinoid tumor, were selected for study. Using selective tissue microdissection and PCR-based analysis of the extracted DNA, we compared the genotypic pattern of the mature teratomatous components to the associated malignant neoplasm with a random panel of highly informative genetic markers for different chromosomes. In all eight cases, genetic analysis of the malignant component revealed a homozygous genotype. In seven cases, the genetic profiles of mature teratomas and the associated malignant tumors were identical, suggesting a direct pathogenetic relationship between these lesions. In one case, the malignant component revealed homozygosity of different alleles compared with mature teratoma, suggesting independent teratomatous growth processes. This finding indicates that some ovarian malignancies of the non-germ cell phenotype arise in teratoma and fall into the spectrum of germ cell tumors.
成熟卵巢畸胎瘤（MOT）起源于减数分裂后的生殖细胞，是杂合子宿主内的基因纯合性肿瘤。MOT可能与非生殖细胞表型的恶性肿瘤相关（所谓的恶性转化）。基于原位变化的存在，一些病例被推测起源于畸胎瘤组织。然而，与成熟畸胎瘤相关的其他恶性肿瘤，如肉瘤，可能起源于畸胎瘤成分或卵巢原有的体细胞组织。选取了8例含有各种组织学类型恶性肿瘤的MOT进行研究，其中包括4例鳞状细胞癌、2例肉瘤、1例甲状腺癌和1例类癌肿瘤。通过选择性组织显微切割和基于PCR的提取DNA分析，我们使用一组针对不同染色体的高信息量遗传标记，将成熟畸胎瘤成分的基因型模式与相关恶性肿瘤进行了比较。在所有8例病例中，恶性成分的基因分析显示为纯合基因型。在7例病例中，成熟畸胎瘤和相关恶性肿瘤的基因谱相同，表明这些病变之间存在直接的致病关系。在1例病例中，恶性成分与成熟畸胎瘤相比显示出不同等位基因的纯合性，表明存在独立的畸胎瘤生长过程。这一发现表明，一些非生殖细胞表型的卵巢恶性肿瘤起源于畸胎瘤，属于生殖细胞肿瘤的范畴。
