- 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
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.
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: