Steven H. Smith

EML4::NTRK3 Rearranged Ovarian Neoplasm: Case Report and Literature Review

This case report details the first known instance of an EML4::NTRK3 rearranged neoplasm in the ovary. The patient, a 32-yr-old woman, presented with prolonged abnormal uterine bleeding and was found to have a 5.0 cm right adnexal mass. Following surgical excision, histologic examination revealed neoplastic epithelioid to spindled cells with moderate cytologic atypia in a variably myxoid background, while immunohistochemistry confirmed positivity for inhibin, calretinin, and smooth muscle actin (SMA). Molecular analysis identified an EML4::NTRK3 fusion, establishing the diagnosis. This rare finding broadens the spectrum of NTRK fusion-related gynecologic tumors, typically observed in the uterus. Through this report and a literature review, we aim to enhance diagnostic recognition and underscore potential therapeutic strategies for NTRK fusion-positive ovarian tumors.