A new c.681dup RUNX1 variant in familial leukemia.

Constitutional RUNX1 gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic RUNX1 (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.