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|Variant||ETV6 - ABL1|
|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|
|Molecular Profile||Protein Effect||Treatment Approaches|
|ETV6 - ABL1||gain of function|
|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||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|