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Gene ETV6 ABL1
Variant ETV6 - ABL1
Impact List fusion
Protein Effect gain of function
Gene Variant Descriptions ETV6-ABL1 results from the fusion of ETV6 (also referred to as TEL) and ABL1, demonstrating increased kinase activity (PMID: 9695962) and the ability to induce CML-like myeloproliferative disease in mice (PMID: 12036890) and in cell culture (PMID: 9695962).
Associated Drug Resistance

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No Variant Reference Transcript is Available.
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Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 - ABL1 chronic myeloid leukemia predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a clinical case study, Tasigna (nilotinib) treatment resulted in a complete hematological response after 4 weeks of treatment and sustained complete cytogenetic response and major molecular response at 22 months from diagnosis in a patient with chronic myeloid leukemia harboring ETV6-ABL1, whose disease progressed while on Gleevec (imatinib mesylate) at 6 months from diagnosis (PMID: 24053143). 24053143
ETV6 - ABL1 myeloid neoplasm predicted - sensitive Dasatinib Case Reports/Case Series Actionable In a clinical study, a patient with a myeloid neoplasm harboring ETV6-ABL1 demonstrated a complete molecular response after being treated with Sprycel (dasatinb) for 18 months (PMID: 32279331). 32279331
ETV6 - ABL1 chronic myeloid leukemia predicted - resistant Imatinib Case Reports/Case Series Actionable In a clinical case study, a patient with chronic myeloid leukemia harboring ETV6-ABL1 achieved a complete hematological response after 4 weeks of Gleevec (imatinib mesylate) treatment, but the disease progressed at 6 months (PMID: 24053143). 24053143
ETV6 - ABL1 myeloid neoplasm predicted - sensitive Nilotinib Case Reports/Case Series Actionable In a clinical study, treatment with Tasigna (nilotinib) in patients with a myeloid neoplasm harboring ETV6-ABL1 resulted in a complete cytogenetic response in three patients, including two patients who had been previously treated with Gleevec (imatinib), one of which who also developed a complete molecular response to Tasigna (nilotinib), and led to a complete hematologic response in another patient (PMID: 32279331). 32279331
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ETV6 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In multiple clinical studies, ETV6 mutations were associated with a shorter overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 21877899, PMID: 26769228). 21877899 26769228 21714648
ETV6 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic ETV6 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
ETV6 - ABL1 gain of function