What question did this study set out to answer?

To explore the association of a new RUNX1 variant with familial cases of leukemia.

April 8, 2026Open Access

A new c.681dup RUNX1 variant in familial leukemia

Key Points

To explore the association of a new RUNX1 variant with familial cases of leukemia.
Genetic analysis of a proband diagnosed with AML and T-ALL after transplant
Assessment of familial history of leukemia across three generations
Identification of the pathogenic RUNX1 variant
A new pathogenic RUNX1 variant (c.681dup) was identified in the proband and his mother
The familial history spans three generations, highlighting a genetic predisposition to leukemia

Abstract

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.

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