RUNX1T1
Overview
RUNX1T1 (also known as ETO or MTG8) is a transcriptional repressor that forms the RUNX1-RUNX1T1 fusion protein (also called AML1-ETO) as a result of the t(8;21) chromosomal translocation. This fusion is one of the most common and clinically favorable recurrent genomic alterations in AML, defining the t(8;21) AML subtype. RUNX1T1 disrupts normal myeloid differentiation by repressing RUNX1-target genes.
Alterations observed in the corpus
- RUNX1-RUNX1T1 fusion (from t(8;21)) is a favorable-risk transcription-factor fusion in AML, mutually exclusive with NPM1 and DNMT3A mutations; RUNX1-RUNX1T1-fused samples carried the fewest cooperating mutations in the AML cohort PMID:23634996
- Referenced in the context of colorectal carcinoma genomic characterization; altered in the primary-metastasis matched cohort studied by whole-exome sequencing PMID:25164765
- RUNX1-RUNX1T1 t(8;21) fusion defines a favorable-risk AML subgroup (4%, n=60) in a 1540-patient genomic landscape study across AML treatment trials PMID:27276561.
Cancer types (linked)
- AML: RUNX1-RUNX1T1 defines the t(8;21) AML subtype; mutually exclusive of NPM1, FLT3, and DNMT3A driver mutations; associated with favorable prognosis PMID:23634996
Co-occurrence and mutual exclusivity
- RUNX1-RUNX1T1 is mutually exclusive with NPM1, DNMT3A, FLT3, and RUNX1 point mutations; forms a distinct mutual-exclusivity group with PML-RARA and MYH11-CBFB fusions PMID:23634996
Therapeutic relevance
- t(8;21) AML with RUNX1-RUNX1T1 has favorable prognosis and is typically treated with high-dose cytarabine consolidation; the fusion protein is a potential target for novel therapies PMID:23634996
Open questions
- Cooperating mutations that confer relapse risk or treatment resistance in RUNX1-RUNX1T1-positive AML are incompletely characterized in this cohort.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:25164765
This page was processed by wiki-cli on 2026-05-11. - PMID:27276561
This page was processed by entity-page-writer on 2026-05-15.