[Clinical analysis of 3 cases of childhood primary pure erythroid leukemia and literature review].

Abstract

This study aimed to investigate the clinical characteristics of primary pure erythroid leukemia (PEL) in children, particularly PEL with NFIA::CBFA2T3 or NFIA::RUNX1T1 fusions. We retrospectively analyzed clinical data from three children with PEL who were treated at the Capital Center for Children's Health, Capital Medical University, between September 2017 and September 2021, and reviewed the literature. All three patients had cytogenetic alterations: case 1 had t (1;16) (p32;q24), case 2 had an NFIA::CBFA2T3 fusion, and case 3 had an NFIA::RUNX1T1 fusion. All three patients responded poorly to standard intensive chemotherapy for acute myeloid leukemia (AML) and to regimens containing hypomethylating agents. Cases 1 and 3 died after continued disease progression. Case 2 underwent intensive chemotherapy followed by umbilical cord blood stem cell transplantation, relapsed 2 months after transplantation, and died soon thereafter. These findings suggest that primary PEL in children is characterized by an insidious onset, rapid progression, and poor response to commonly used AML chemotherapy regimens, and that patients may benefit from hematopoietic stem cell transplantation after achieving complete remission.