Introduction
DNA polymerase epsilon (Pol ε), which is composed of four subunits, is a core component of DNA replication. Pathogenic variants in POLEencoding Pol ε catalytic subunit 1 (the largest subunit) is known to cause FILS and IMAGeI syndrome, two syndromes with similar symptoms comprised of multiple malformations and organ dysfunctions, including facial dysmorphism, congenital adrenal hypoplasia, and immunodeficiency.1,2 Recently, we reported a novel compound heterozygous variant in POLE(p.[D1131fs];[T1891del]) to be the cause of congenital anemia in two Japanese sisters.3 Both sisters developed multilineage dysplasia compatible with myelodysplastic syndrome (MDS) and remained transfusion dependent. They both proceeded to hematopoietic stem cell transplantation (HCT). Here, we report the successful HCT outcomes of these two sisters.