Diogo Carvalho, Delfim Doutel, Teresa Margarida Cunha
Epithelioid trophoblastic tumour (ETT) is a rare form of gestational trophoblastic disease (GTD). We report a case of a 28-year-old woman presenting with abnormal uterine bleeding and mildly elevated serum beta human chorionic gonadotropin (β-hCG) levels. Imaging revealed a heterogeneous uterine mass with lymphadenopathy and pulmonary metastases. Core biopsy histology suggested ETT, but definitive subclassification was limited by small sample size and an ambiguous immunohistochemical profile, which is itself a recognised source of diagnostic uncertainty in this entity. The patient received neoadjuvant platinum-based chemotherapy, followed by total hysterectomy with bilateral salpingo-oophorectomy and lymphadenectomy. At 10 months postoperatively, the patient remains disease-free with normalisation of β-hCG levels. This case illustrates the diagnostic challenges inherent to GTD, particularly the overlap between ETT, placental site trophoblastic tumour (PSTT) and choriocarcinoma; emphasises the importance of integrating multimodal imaging with histopathology within a multidisciplinary team; and demonstrates that a combined approach of chemotherapy and surgical resection can lead to favourable outcomes in this rare entity.