Primary retroperitoneal mucinous carcinoma with BRAF, KIT, NF2, and AR mutations: A case report and review of the literature

Abstract

Primary retroperitoneal mucinous carcinoma is an extremely rare malignancy, posing diagnostic and therapeutic challenges due to its nonspecific clinical presentation and lack of established management guidelines. The present article reports the case of a 39-year-old woman with progressive abdominal bloating and ascites, initially evaluated for a suspected ovarian mass. Imaging studies revealed a large mass with cystic and solid components mimicking an ovarian origin. However, surgical exploration revealed a retroperitoneal mass. Subsequent pathological analysis confirmed the diagnosis of mucinous Mullerian carcinoma. Molecular analysis revealed several mutations, including BRAF (V600E). Surgical resection was successful in treating the mass and the patient was in full remission at two-year follow-up. Despite its rarity, mucinous carcinoma should always be considered in the differential diagnosis of retroperitoneal masses. This case report discusses the anatomopathological features of primary retroperitoneal mucinous carcinoma and highlights the need for further research to elucidate the optimal management strategies and prognostic factors for this rare malignancy.