Urgent haploidentical hematopoietic cell transplantation may be considered in cases of severe aplastic anemia (SAA) without human leukocyte antigen-matched donor and suffering from severe infection. However, deciding on allogeneic transplantation in the setting of active systemic infection is challenging due to poor outcomes. This report presents a case of disseminated Magnusiomyces capitatus infection in a 5-year-old male who underwent immunosuppressive therapy for hepatitis-associated SAA. To address the critical situation, granulocyte transfusion was promptly administered from the patient’s mother, followed by unmanipulated haploidentical peripheral blood stem cell transplantation from the patient’s father with posttransplant cyclophosphamide, ultimately resulting in successful rescue.

POLE codes for DNA polymerase epsilon (Pol ε) and variants of Pol ε catalytic subunit 1 can be pathogenic. We recently reported a novel POLE gene variant (p.[D1131fs];[T1891del]) which leads to bone marrow failure in two Japanese sisters. Here, we describe the successful course of hematopoietic stem cell transplantation of these two sisters. Both cases were born with congenital anemia and remained transfusion dependent. Their bone marrow showed gradually proceeding trilineage dysplasia. They both underwent HCT from an unrelated bone marrow donor and successfully achieved engraftment. Ten and eight years have passed respectively, and they are doing well without transfusion.

Background: In children with intermediate-risk relapsed acute lymphoblastic leukemia (ALL), allogeneic hematopoietic stem cell transplantation (allo-HSCT) has markedly improved the outcome of patients with poor minimal residual disease (MRD) response. However, there is no consensus on the optimal conditioning regimen for allo-HSCT. Procedure: We prospectively analyzed the efficacy and safety of allo-HSCT with a unified conditioning regimen for children with intermediate-risk relapsed ALL, based on MRD in the bone marrow after induction, in the Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) ALL-R08-II nationwide cohort. The conditioning regimen for allo-HSCT comprised total body irradiation (TBI), etoposide (ETP) and cyclophosphamide (CY) (UMIN000002025). Results: Twenty patients with post-induction MRD ≥ 10 −3 and two with MRD that could not be evaluated underwent allo-HSCT. Engraftment was confirmed in all patients. No transplantation-related mortality was observed. The 3-year event-free survival and overall survival after transplantation were 86.4% ± 7.3% and 95.5% ± 4.4%, respectively. Conclusion: Allo-HSCT based on post-induction MRD with TBI + ETP + CY conditioning was highly effective and feasible for Japanese children with intermediate-risk relapsed ALL.