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.