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Heterozygous bone marrow in a homozygous mature ovarian teratoma: a challenge to the germ cell theory or incidental somatic heterotopia?
  1. William R Munday,
  2. Pei Hui
  1. Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA
  1. Correspondence to Dr William Munday, Department of Pathology, Yale University School of Medicine, 310 Cedar Street LH 108, P.O. Box 208023, New Haven, CT 06520, USA; william.munday{at}

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Mature ovarian teratomas (MOTs) comprise the largest group of ovarian tumours and account for nearly 95% at this anatomic location.1–3 Although MOTs may occur at any age, the majority occur during the reproductive years.4 While their origin has been controversial, these tumours are largely accepted as derivative tumours of germ cells that have undergone meiosis I, and are, therefore, genotypically homozygous. Substantial evidence exists to support this hypothesis. Yet, several early studies identified a subset of tumours that showed a heterozygous genotype. Here, we report a case with definitive evidence of both mature homozygous and mature heterozygous heterotopic tissues within a mature teratoma.

Clinical case presentation

A previously healthy patient presented for laparoscopic removal of a large left-sided ovarian cyst. The lesion was incidentally noted on a prior ultrasound during a recent pregnancy, which had been complicated by a second trimester spontaneous abortion at 13 weeks’ gestation. The patient had no pertinent medical history. Surgical history included bilateral eyelid laceration repair. The patient was a former smoker (a quarter pack per day). Family history was non-contributory. A review of systems was negative for vaginal bleeding, fever, chills, dizziness, headache, chest pain and shortness of breath. Physical examination was unremarkable. White blood cell count was slightly elevated at 12.6×109/L. Haemoglobin and platelets measured 9.5×109/L and 154×109/L, respectively. By ultrasound, the predominantly echogenic left adnexal mass measured approximately 17 cm and showed foci of calcification. The lesion filled the pelvis and extended into the abdominal cavity to the level of the …

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  • Contributors WRM contributed to the drafting and writing of the manuscript, and analysis and interpretation of data. PH contributed to the conception and design, analysis and interpretation of data, and revising the manuscript critically for important intellectual content and final approval of the version to be published.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.