Background: Ovarian mature teratoma represents the most common benign neoplasm among pediatric germ cell tumors. This study reports the prevalence and characteristics of familial forms identified in a single center over 22 years in order to better understand possible familial predispositions to ovarian teratoma.
Methods: The records of all patients who were surgically treated for ovarian teratoma between 2000 and 2022 were retrospectively reviewed. Families were systematically asked about a possible family history of ovarian tumors (benign or malignant) or testicular germ cell tumors.
Results: Among the 136 patients operated on for ovarian teratoma, 24 cases of familial form (18%) were identified. Patients with familial history of ovarian mature teratoma were more likely to have multifocal tumors at diagnosis and metachronous lesions over time (p = 0.032 and p = 0.018, respectively) compared with patients without familial history. The family history concerned first-degree relatives in 12/24 cases (50%) including one case of twin monozygotic sisters, and affected two consecutive generations in three cases.
Conclusion: A systematic examination made it possible to find up to 18% of familial forms in mature teratomas of the ovary, which in these cases seem to be more likely multifocal. The underlying genetic mechanisms are likely to be heterogeneous. Further work seems to be necessary to provide a better understanding of the genesis of germ cell tumors.
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