Genetic zygosity of mature ovarian teratomas, struma ovarii, and ovarian carcinoids

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.

Keywords: Breast tissue; Carcinoid; Genetic zygosity; Lactational change; Mature teratoma; Ovary; Struma ovarii.

MeSH terms

  • Adolescent
  • Adult
  • Aged, 80 and over
  • Carcinoid Tumor / genetics*
  • Carcinoid Tumor / pathology
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / pathology
  • Struma Ovarii / genetics*
  • Struma Ovarii / pathology
  • Teratoma / genetics*
  • Teratoma / pathology