Extrarenal Wilms tumor of the recto-vaginal septum with BRCA2 gene mutation: a case report

Extrarenal Wilms tumor (ERWT) is rare, and its occurrence in the adult recto-vaginal septum is even more uncommon. Importantly, instances of a BRCA2 gene mutation associated with ERWT have not been documented. In this report, we present an unusual case of ERWT situated in the recto-vaginal septum of a 49-year-old woman, accompanied by a concurrent BRCA2 gene mutation. After the tumor's second recurrence, the patient experienced symptomatic relief after administering poly (ADP-ribose) polymerase (PARP) inhibitor therapy. Given the limited exposure and understanding of optimal treatment strategies for this distinct tumor, there is a definite need to accumulate further clinical experiences and insight. Consequently, we propose that genetic testing be considered in cases involving tumor recurrence or metastasis, since this may offer valuable information for identifying targets for therapeutic intervention.