Gene affected:
Runt-related transcription factor 1 (RUNX1) (acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2))
Note the RUNX1 gene is mutated also in the t(8;21)(q22;q22) RUNX1/RUNX1T1 chromosomal translocation.

Clinical significance
AML with mutated RUNX1 is a separate provisional entity in the WHO 2016 Classification with adverse outcome,
Mutation affecting RUNX1 may confer adverse outcome MDS.

Function of gene

RUNX1 is a critical transcription factor involved in the regulation of haematopoietic stem cell differentiation and homeostasis.

NGS panel gene coverage

Full coverage


RUNX1 is affected in the t(8,21) chromosomal translocation and related cytogenetic lesions coding the RUNX1-RUNX1T1 fusion gene associated with M2 AML and a good outcome - this contrasts with the adverse effects of direct RUNX1 mutation.

AML (~10%)
AML with mutated RUNX1" is a new provisional entity in the 2016 WHO classification. It is associated with reduced overall survival and reduced progression free survival
MDS (~10%)
Mainly MDS with multilineage dysplasia, and MDS subtypes with excess blasts. It is associated with a reduced overall survival
CMML (30%)
Associated with an increased risk of transformation to AML and decreased overall survival

Note Somatic mutations of RUNX1 are seen in of AML cases and in MDS. Inherited RUNX1 mutations are associated with a familial platelet disorder and a predisposition to AML.


GeneWiki link:
Gene Wiki entry for RUNX1
1. Prognostic influence in AML
2. RUNX1 in de novo AML
3. RUNX1 and platelets