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Gene Symbol RUNX1
Synonyms AML1 | AML1-EVI-1 | AMLCR1 | CBF2alpha | CBFA2 | EVI-1 | PEBP2aB | PEBP2alpha
Gene Description RUNX1, RUNX family transcription factor 1, is a transcription factor that binds to core binding factor beta (CBFB) and plays a role in hematopoiesis (PMID: 22150309, PMID: 23180629). Germline inactivating mutations in RUNX1 are common in familial platelet disorder with predisposition to leukemia (PMID: 32024352) and mutations and translocations have been implicated in several other hematologic cancers (PMID: 22150309, PMID: 30289875), including acute myeloid leukemia (PMID: 32208489) and the RUNX1-ETV6 fusion is common in pediatric B-cell acute leukemia (PMID: 32024352), while RUNX1 functions as an oncogene in T-cell leukemia (PMID: 32024352) and overexpression may associate with decreased survival in renal call carcinoma (PMID: 32156779).

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RUNX1 mutant acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with adverse clinical outcome in acute myeloid leukemia patients (PMID: 21343560, PMID: 22689681, PMID: 22753902, PMID: 25652455). 21343560 25652455 22689681 22753902
RUNX1 mutant acute myeloid leukemia not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor/adverse prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
RUNX1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Prognostic In clinical analyses, RUNX1 mutations were associated with poor overall survival in patients with myelodysplastic syndrome (PMID: 21714648, PMID: 22869879). 22869879 21714648
RUNX1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic RUNX1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
RUNX1 mutant polycythemia vera not applicable N/A Guideline Prognostic RUNX1 mutations are associated with inferior overall survival and leukemia-free survival in patients with polycythemia vera (NCCN.org). detail...
RUNX1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia (NCCN.org). detail...
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Momelotinib (CYT387) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Jakafi (ruxolitinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Xeljanz (tofacitinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Pyridone 6 Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Pyridone 6 (CMP6) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
RUNX1 rearrange SF3B1 K700E acute myeloid leukemia sensitive EPZ015666 + MS023 Preclinical - Pdx Actionable In a preclinical study, MS023 and EPZ015666 (GSK3235025) combination treatment reduced tumor burden in a patient-derived xenograft (PDX) model of acute myeloid leukemia cells harboring RUNX1 rearrangement and SF3B1 K700E (PMID: 31408619). 31408619
RUNX1 - RUNX1T1 leukemia sensitive I-CBP112 Preclinical Actionable In a preclinical study, I-CBP112 inhibited clonogenic growth in a leukemia cell line harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700). 26552700
RUNX1 - RUNX1T1 leukemia sensitive I-CBP112 + JQ1 Preclinical Actionable In a preclinical study, the combination of I-CBP112 and JQ1 worked synergistically to inhibit growth of leukemia cells harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700) 26552700
RUNX1 - RUNX1T1 leukemia sensitive Doxorubicin + I-CBP112 Preclinical Actionable In a preclinical study, the combination of I-CBP112 and Doxorubicin worked synergistically to inhibit growth of leukemia cells harboring a RUNX1-RUNX1T1 (AML1-ETO) fusion in culture (PMID: 26552700) 26552700
RUNX1 - RUNX1T1 acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, the t(8;21) cytogenetic abnormality, which leads to the RUNX1-RUNX1T1 fusion, is associated with core-binding factor acute myeloid leukemia and favorable prognosis (PMID: 22180162, PMID: 9746770, PMID: 25111512). 9746770 25111512 22180162
RUNX1 - RUNX1T1 acute myeloid leukemia not applicable N/A Guideline Prognostic RUNX1-RUNX1T1 fusions (t(8;21)(q22;q22.1)) are associated with a favorable prognosis in patients with non-APL acute myeloid leukemia (NCCN.org). detail...
RUNX1 - RUNX1T1 acute myeloid leukemia sensitive RN-1 Preclinical - Cell line xenograft Actionable In a preclinical study, RN-1 inhibited growth of acute myeloid leukemia cell lines harboring RUNX1-RUNX1T1 in culture, and inhibited tumor growth in xenograft models (PMID: 26837761). 26837761
RUNX1 - RUNX1T1 acute myeloid leukemia sensitive GSK690 Preclinical - Cell culture Actionable In a preclinical study, GSK690 inhibited growth of acute myeloid leukemia cell lines harboring RUNX1-RUNX1T1 in culture (PMID: 26837761). 26837761
RUNX1 - RUNX1T1 KIT mut acute myeloid leukemia not applicable N/A Clinical Study Prognostic In clinical analyses, coincident KIT mutations were associated with higher relapse rate and decreased overall survival in acute myeloid leukemia patients with RUNX1-RUNX1T1 fusions (PMID: 18648004, PMID: 16384925, PMID: 25111512). 25111512 16384925 18648004
RUNX1 - RUNX1T1 KIT mut acute myeloid leukemia not applicable N/A Guideline Prognostic KIT mutations are associated with adverse prognosis in patients with core binding factor (CBF) acute myeloid leukemia with RUNX1-RUNX1T1 (t(8;21)) (NCCN.org). detail...
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia sensitive Crenolanib Preclinical - Cell culture Actionable In a preclinical study, Crenolanib inhibited Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture (PMID: 31309543). 31309543
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia sensitive Quizartinib Preclinical - Cell culture Actionable In a preclinical study, Quizartinib (AC220) inhibited Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture (PMID: 31309543). 31309543
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia sensitive Sorafenib Preclinical - Cell culture Actionable In a preclinical study, Nexavar (sorafenib) inhibited Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture (PMID: 31309543). 31309543
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia sensitive Avapritinib Preclinical - Cell culture Actionable In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture (PMID: 31309543). 31309543
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia decreased response Gilteritinib Preclinical - Cell culture Actionable In a preclinical study, Xospata (gilteritinib) demonstrated reduced ability to inhibit Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture compared to other kinase inhibitors (PMID: 31309543). 31309543
RUNX1 - RUNX1T1 KIT N822K acute myeloid leukemia decreased response Midostaurin Preclinical - Cell culture Actionable In a preclinical study, Rydapt (midostaurin) demonstrated reduced ability to inhibit Kit phosphorylation and growth of acute myeloid leukemia cell lines harboring KIT N822K and RUNX1-RUNX1T1 in culture compared to other kinase inhibitors (PMID: 31309543). 31309543