Diagnosis and Treatment of Pediatric Acute Megakaryoblastic Leukemia with <i>NUP98</i>::<i>KDM5A</i> Rearrangement: Case Report

Non-Down syndrome pediatric acute megakaryoblastic leukemia (AMKL) may be classified according to the presence of recurrent genetic abnormalities with prognostic relevance.In this case study, we report on a girl with AMKL, 32 months old at the time of diagnosis, in whom we confirmed the presence of the cryptic, poor prognosis NUP98::KDM5A fusion.The patient achieved complete remission (CR) with the first course of chemotherapy, underwent haploidentical family donor hematopoietic stem cell transplantation (HSCT) without event, but relapsed 5 months after HSCT.Through this case report, we emphasize the good initial response to chemotherapy, and the early relapse despite undergoing HSCT in first CR.We review the limited literature on NUP98::KDM5A (+) pediatric AML, and underscore the need for further study to improve the outcome of patients with this rare AML subtype.