Hematopoietic stem cell transplantation in two sisters with bone marrow
failure associated with POLE gene variants
Abstract
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.