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RUNX1T1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RUNX1T1 gene

The RUNX1T1 gene produces the ETO protein, which acts as a transcriptional corepressor to regulate gene activity, particularly in blood cell development.

Normal Function

The RUNX1T1 gene provides instructions for making a protein commonly referred to as ETO. ETO is a transcriptional corepressor, meaning it turns off (represses) gene activity. It functions by binding to proteins that normally activate genes, thereby blocking their activity, and by interacting with other corepressors to maintain a repressed state.

Health Conditions Related to Genetic Changes

Core binding factor acute myeloid leukemia

A translocation involving the RUNX1T1 gene is found in approximately 7 percent of individuals with acute myeloid leukemia (AML). This translocation, t(8;21), fuses the RUNX1 gene on chromosome 21 with the RUNX1T1 gene on chromosome 8.

  • The resulting RUNX1-ETO fusion protein attaches to DNA but turns off genes related to blood cell development.
  • This blocks the maturation (differentiation) of blood cells, leading to the production of abnormal, immature white blood cells called myeloid blasts.
  • Additional genetic changes are typically necessary for these myeloid blasts to progress into cancerous leukemia cells.

Other Names for This Gene

  • acute myelogenous leukemia 1 translocation 1, cyclin-D related
  • AML1T1
  • CBFA2T1
  • CDR
  • core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related
  • eight twenty one protein
  • ETO
  • MTG8
  • MTG8_HUMAN
  • myeloid translocation gene on 8q22
  • protein CBFA2T1
  • runt related transcription factor 1; translocated to, 1 (cyclin D related)
  • runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • zinc finger MYND domain-containing protein 2
  • ZMYND2

Frequently Asked Questions

t(8;21) creates the RUNX1‑ETO fusion protein and is classified as a favorable‑risk cytogenetic abnormality. Patients often respond well to standard induction chemotherapy and have higher long‑term survival rates compared with other AML subtypes, though outcomes still depend on age and additional mutations.;Are there any targeted drugs that specifically inhibit the RUNX1‑ETO fusion protein?::Direct inhibitors of RUNX1‑ETO are still under investigation. Current clinical practice uses conventional chemotherapy, and some trials are evaluating agents like menin‑KMT2A inhibitors or epigenetic modulators that may indirectly suppress the fusion’s activity. Participation in a clinical trial is the best way to access such experimental therapies.;How is the RUNX1T1 rearrangement detected in the laboratory, and does the sample type matter?::The rearrangement is most reliably identified by FISH using dual‑color probes on bone‑marrow aspirates, but PCR and NGS panels on peripheral blood can also detect the fusion transcript. Bone‑marrow samples provide higher sensitivity because leukemic blasts are concentrated there.;Does having a RUNX1‑ETO fusion affect eligibility for stem‑cell transplant or clinical trials?::Because t(8;21) AML is a favorable‑risk disease, many transplant protocols reserve allogeneic stem‑cell transplant for patients who relapse or have additional high‑risk features. However, many clinical trials specifically target RUNX1‑ETO AML, so you may be eligible for investigational agents aimed at this fusion. Discuss trial options with your oncologist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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