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|Variant||ETV6 - RUNX1|
|Protein Effect||gain of function|
|Gene Variant Descriptions||ETV6-RUNX1 results from the fusion of ETV6 and RUNX1, which leads to altered transcriptional regulation resulting in preleukemic cells (PMID: 17325341) and demonstrates upregulation of EPOR, leading to increased cell survival (PMID: 21900195).|
|Associated Drug Resistance|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ETV6 - RUNX1||acute lymphoblastic leukemia||not applicable||N/A||Clinical Study||Diagnostic||ETV6-RUNX1 is used in the diagnosis of acute lymphocytic leukemia (PMID: 26711002, PMID: 15704129, PMID: 8609706, Guidelines).||15704129 8609706 detail... 26711002|
|ETV6 - RUNX1||acute lymphoblastic leukemia||not applicable||N/A||Clinical Study||Prognostic||In multiple clinical studies, the ETV6-RUNX1 fusion was associated with a favorable prognosis in acute lymphocytic leukemia patients (PMID: 8609706, PMID: 10086740, PMID: 11432885, Guidelines).||11432885 detail... 8609706 10086740|
|ETV6 - RUNX1||acute lymphoblastic leukemia||not applicable||Copanlisib||Preclinical - Cell culture||Emerging||In a preclinical study, knockout of ETV6-RUNX1 in acute lymphocytic leukemia cells combined with Aliqopa (copanlisib) resulted in greater decreased cell viability and phosphorylation of Akt and Mtor compared to knockdown alone in culture (PMID: 31952221).||31952221|
|Molecular Profile||Protein Effect||Treatment Approaches|
|ETV6 - RUNX1||gain of function|