Malignant transformation of ovarian teratoma into primitive neuroectodermal tumor: A clinicopathological analysis of three cases and literature review.
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Ovarian teratomas are common benign germ cell tumors, with mature cystic teratomas (MCTs) accounting for approximately 60% of benign ovarian tumors. While malignant transformation in MCTs is uncommon, it can lead to squamous cell carcinoma or adenocarcinoma, and less frequently to neuroectodermal-type tumors, such as primitive neuroectodermal tumors (PNETs). This report presents three cases of ovarian teratoma with malignant transformation to PNET. All three patients were young females. Histological examination revealed small round blue cells arranged in nests and trabeculae, with MCT or immature teratoma (IT) components at the tumor periphery. Immunohistochemistry showed diffuse positivity for neuroendocrine markers, with focal positivity for Fli1, CD99, GFAP and vimentin. Fluorescence in situ hybridization (FISH) did not demonstrate EWSR1 gene rearrangements, supporting the diagnosis of central-type PNET (cPNET). Targeted genetic sequencing identified LDB1 gene alterations in case 1, suggesting a potential association with the development of cPNET. Additionally, this study reviews 54 cases of PNETs in ovarian teratomas reported in 21 publications over the past 25 years, with the collected data indicating that the presence of yolk sac tumor (YST) components may be associated with an increased risk of recurrence. In all, PNETs arising from ovarian teratomas are rare, aggressive malignancies that require a comprehensive diagnostic approach, including histological examination, immunohistochemistry, and molecular testing. Early identification and prompt intervention are crucial for improving patient outcomes.