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|Variant||KMT2A - ELL|
|Protein Effect||gain of function|
|Gene Variant Descriptions||KMT2A-ELL results from the fusion of KMT2A (MLL) and ELL, resulting in the transformation of primary myeloid progenitor cells, which eventually leads to acute myeloid leukemia in mouse models (PMID: 10995463). KMT2A-ELL has been identified in T-cell acute lymphoblastic leukemia (PMID: 33608309), and myeloid sarcoma (PMID: 30922345).|
|Associated Drug Resistance|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|KMT2A - ELL||acute myeloid leukemia||sensitive||I-BET151 + SGC0946||Preclinical - Patient cell culture||Actionable||In a preclinical study, I-BET151 and SGC0946 synergistically inhibited proliferation of patient-derived acute myeloid leukemia cells harboring KMT2A-ELL in culture (PMID: 27294782).||27294782|
|Molecular Profile||Protein Effect||Treatment Approaches|
|KMT2A - ELL||gain of function|