Department of Anatomic Pathology, Hirosaki University Graduate School of Medicine, 5 Zaifu, Hirosaki, 036-8562, Japan.
Department of Pathology, Oosaki Citizen Hospital, Oosaki, Japan.
Virchows Arch. 2018 Aug;473(2):177-182. doi: 10.1007/s00428-018-2319-z. Epub 2018 Feb 17.
Although ovarian monodermal teratomas, including struma ovarii and carcinoids, are closely associated with mature teratomas, their genetic basis is poorly understood. A series of mature and monodermal ovarian teratomas were analyzed by short tandem repeat genotyping to evaluate their genetic zygosity and its associations. Informative DNA genotyping data were obtained for ten mature teratomas, six struma ovarii, and three carcinoids (one insular, one trabecular, and one mucinous). A homozygous genotype was present in five of the ten (50%) mature teratomas, three of the six (50%) struma ovarii, and one of the three (33%) ovarian carcinoids. There was no significant difference in genetic zygosity between mature and monodermal teratomas. Patients' age was not correlated with the genetic zygosity: the youngest age in the homozygous tumor group of patients was 4 years. It is suggested that an oocyte after meiosis I, which has escaped from meiotic arrest, is a significant cause of these tumors. Although one mature teratoma was a rare case with lactating adenoma-like breast tissue, its genetic zygosity was concordant with that of the surrounding teratomatous tissue. In one ovarian carcinoid, the carcinoid and accompanying teratomatous components showed matching zygosity at all but one locus: the carcinoid was heterozygous but teratoma was homozygous at one pericentromeric locus. This suggests that not all carcinoids are secondary neoplasms arising from a fully developed mature teratoma: some are neoplasms deviating from a developing mature teratoma.
虽然卵巢单胚层畸胎瘤，包括甲状腺肿卵巢和类癌，与成熟畸胎瘤密切相关，但它们的遗传基础知之甚少。通过短串联重复基因分型分析了一系列成熟和单胚层卵巢畸胎瘤，以评估其遗传同质性及其相关性。对十个成熟畸胎瘤、六个甲状腺肿卵巢和三个类癌（一个胰岛、一个小梁和一个粘液性）进行了有意义的 DNA 基因分型数据。十个成熟畸胎瘤中有五个（50%）、六个甲状腺肿卵巢中有三个（50%）和三个卵巢类癌中有一个（33%）存在纯合基因型。成熟畸胎瘤和单胚层畸胎瘤的遗传同质性无显著差异。患者年龄与遗传同质性无相关性：纯合肿瘤组患者中年龄最小的为 4 岁。提示减数分裂 I 后逃脱减数分裂阻滞的卵母细胞是这些肿瘤的重要原因。虽然一个成熟畸胎瘤是一个罕见的具有泌乳性腺瘤样乳腺组织的病例，但它的遗传同质性与周围的畸胎瘤组织一致。在一个卵巢类癌中，类癌和伴随的畸胎瘤成分在除一个位点外的所有位点均显示匹配的同质性：类癌为杂合子，但在一个着丝粒周围位点为纯合子。这表明并非所有类癌都是起源于完全成熟畸胎瘤的继发肿瘤：一些是偏离发育中的成熟畸胎瘤的肿瘤。
