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ETV6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ETV6 gene

The ETV6 gene produces a transcription factor that regulates gene activity and plays a critical role in blood cell formation and development.

Normal Function

The ETV6 gene provides instructions for producing a protein that functions as a transcription factor, which means that it attaches (binds) to specific regions of DNA and controls the activity of certain genes. The ETV6 protein is found in the nucleus of cells throughout the body, where it turns off (represses) gene activity. It plays a key role in development before birth and in regulating blood cell formation.

Health Conditions Related to Genetic Changes

PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia, a type of cancer of blood-forming cells, can be caused by a genetic rearrangement known as a translocation that brings together part of the ETV6 gene and part of another gene called PDGFRB, creating the ETV6-PDGFRB fusion gene. The translocation that leads to the ETV6-PDGFRB fusion gene is a somatic mutation, which is acquired during a person's lifetime and occurs initially in a single cell.

The protein produced from the ETV6-PDGFRB fusion gene, called ETV6/PDGFRβ, functions differently than the proteins normally produced from the individual genes. Unlike the normal PDGFRβ protein, the fusion protein is always active, which means certain cell signaling pathways are constantly turned on. The fusion protein is unable to repress gene activity regulated by the normal ETV6 protein, so gene activity is increased. The overactive signaling pathways and abnormal gene activity increase the proliferation and survival of cells. When the ETV6-PDGFRB fusion gene mutation occurs in cells that develop into blood cells, the growth of white blood cells called eosinophils is poorly controlled, leading to PDGFRB-associated chronic eosinophilic leukemia.

Other cancers

Translocations involving the ETV6 gene and more than 30 other genes have been found to cause different types of leukemia, including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL), and a bone marrow disease called myelodysplastic syndrome (MDS). Depending on the gene fused with ETV6, a number of mechanisms can cause these conditions, such as impaired regulation of gene activity, abnormal signaling, or loss of normal gene function. The ETV6 gene translocations that cause these diseases are somatic mutations and are not inherited.

Other Names for This Gene

  • ETS translocation variant 6
  • ets variant 6
  • ets variant gene 6 (TEL oncogene)
  • ETS-related protein Tel1
  • ETV6_HUMAN
  • TEL
  • TEL1 oncogene
  • transcription factor ETV6

Genomic Location

The ETV6 gene is found on chromosome 12.

Frequently Asked Questions

The ETV6‑PDGFRB fusion gene creates a constitutively active tyrosine kinase that drives uncontrolled proliferation of eosinophilic cells. Because the fusion protein is sensitive to tyrosine‑kinase inhibitors (TKIs) like imatinib or ponatinib, patients with this mutation often respond dramatically to these targeted therapies, which can induce remission and reduce eosinophil counts. Identifying the fusion gene is therefore critical for selecting the most effective, less toxic treatment.
With appropriate TKI therapy, many patients achieve durable remission, with normal eosinophil counts and resolution of organ damage. Long‑term follow‑up is needed to monitor for disease relapse, drug resistance, or secondary malignancies. Regular blood counts, eosinophil levels, and imaging studies help assess disease status. Most patients can maintain a good quality of life, though some may experience side effects such as fatigue, edema, or liver enzyme elevations that require dose adjustments.
ETV6 mutations associated with leukemia are typically somatic (acquired) and not inherited, so routine genetic testing of family members is usually not indicated. However, if a germline ETV6 mutation is suspected—such as in cases of familial thrombocytopenia or predisposition to hematologic cancers—genetic counseling is recommended. In such scenarios, relatives may undergo targeted sequencing to assess risk and consider surveillance or preventive measures.
Detection is performed using fluorescence in situ hybridization (FISH), reverse‑transcriptase PCR, or next‑generation sequencing on bone marrow aspirate or peripheral blood samples. FISH uses probes that bind to the ETV6 and PDGFRB loci, revealing a translocation. PCR amplifies the fusion transcript, while sequencing confirms the exact breakpoint. Early and accurate testing guides therapy and prognosis.
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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