Uterine recurrence of acute lymphoblastic leukemia: diagnosis, treatment and literature review

Background: Extramedullary relapse of B-cell acute lymphoblastic leukaemia (B-ALL) occurs in 2–6% of cases, with the central nervous system and testes being the most commonly affected sites. Infiltration of gynaecological organs is an exceedingly rare occurrence, with the majority of documented cases pertaining to the ovary. Case: This study presents the case of a 14-year-old girl with extramedullary relapse of B-ALL in the uterus, following intensive chemotherapy and immunotherapy with inotuzumab. The patient presented with symptoms of abnormal uterine bleeding and severe pelvic pain. She was treated with surgical intervention (bilateral hysterosalpingo-oophorectomy) and subsequently received chimeric antigen receptor T-Cell (CAR-T19) therapy, yet the disease remained refractory. It is possible that CAR T-cell therapy may be more effective at penetrating extramedullary sites, although relapses can occur, in a manner similar to that observed with haematopoietic stem cell transplantation. Conclusions: Uterine relapse is an uncommon occurrence in ALL, and there is currently no established therapeutic approach. This rare presentation may be more common with newer immunotherapeutic approaches in patients with advanced disease and should be considered in the presence of metrorrhagia or pain. Although CAR T-cell therapy may be effective in extramedullary disease, hysterectomy may be a viable option in the treatment of uterine relapse in ALL to manage gynaecological symptoms and reduce tumour burden in order to achieve a complete response to systemic treatment.