Introduction: Struma ovarii is a rare type of ovarian teratoma consisting predominantly of thyroid tissue and showing a usually benign clinical course which cannot be predicted by its histology. Thus, their molecular analysis could help to better classify these tumors. However, the molecular profile of struma ovarii, especially the benign one, has been rarely studied.
Material and methods: We performed a retrospective, non-interventional study of 23 benign ovarian struma ovarii using formalin-fixed paraffin-embedded tissues for DNA extraction and next-generation sequencing.
Results: Two tumors harbored interesting molecular alterations. The first tumor, diagnosed in an adult patient, harbored two DICER1 variants: c. 4738 C > T and c. 5429 A > T. The second one was a struma ovarii harboring a POLD1 c.961G > A, p.(Gly321Ser) variant. None of the tumors harbored BRAF mutations.
Conclusion: Benign struma ovarii do not harbor BRAF alterations. DICER1 and POLD1 variants need further investigation in this tumor pathology.
Keywords: DICER1; Mutations; Ovarian teratoma; POLD1; Struma; Thyroid.
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