MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE In this paper, we have analyzed chromosomal rearrangements in two leukemia cell lines derived from CML-BC with inv(3)(q21q26) and have identified the breakpoints within the EVI1 coding area. 9192861 1997
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The AML1-EVI-1 fusion transcript was consistent in all three cases of the t(3;21)-carrying leukemia examined by RNA-based PCR. 8313895 1994
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE There is no evidence of ongoing in vivo clonal expansion of the Mds1/Evi1 populations, and all animals are hematologically normal without evidence for leukemia. 15933056 2005
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Although it is unlikely that the Rb gene is directly involved in this translocation, the loss of the Rb gene product combined with the activation of the EVI1 gene may have led to the development of leukemia. 8813093 1996
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Integrations are located in intron 1 or 2, where they promote expression of truncated proteins lacking the PRDI-BF1-RIZ1 homologous (PR) domain, similar to what is observed in human leukemias with EVI1 or PRDM16 mutations. 16109773 2005
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE Activation of the Evi-1 gene was first described to be associated with the transformation of murine myeloid leukaemias and has previously been detected in cases of human acute myeloid leukaemia (AML) and chronic myeloid leukaemia (CML) in blast crises and in myelodysplastic syndromes. 9432037 1997
CUI: C0023418
Disease: leukemia
leukemia
0.100 GeneticVariation disease BEFREE The human PRDI-BF1 or BLIMP1 gene and its mouse homolog Blimp1 are members of the recently realized PR domain family that includes the retinoblastoma interacting zinc finger gene RIZ and the MDS1-EVI1 leukemia cancer gene. 8921366 1996
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Using the Evi1(pos) MLL-AF9 mouse leukemia model, we demonstrate increased sensitivity to chemotherapeutic agents on reduction of Evi1 expression. 22553314 2012
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Characterization of the RUNX1-PRDM16 fusion protein and comparison with the RUNX1-MDS1/EVI1 protein will facilitate the understanding of the mechanisms underlying RUNX1-associated leukemia. 16015645 2005
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We conclude that the leukemic cell transformation in t(3;21) leukemias is probably caused by these dual functions of AML1/Evi-1 chimeric protein. 7739522 1995
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE These results are important in view of the fact that EVI1 and MDS1 are involved in leukemia associated with chromosomal translocation breakpoints in the region between these genes. 8643684 1996
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE However, despite a number of characteristics that make EVI-1 an attractive candidate oncogene, its biological properties fail to fully explain the phenotype of leukemias carrying 3q rearrangements. 11908737 2002
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The PTEN/AKT/mTOR signaling pathway and the Evi1-polycomb interaction can be promising therapeutic targets for leukemia with activated Evi1. 21289308 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Thus, AML1/Evi-1 may contribute to leukemogenesis by specifically blocking growth-inhibitory signaling of TGF-beta in the t(3;21) leukemia. 9834202 1998
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE MDS1/EVI1 enhances TGF-beta1 signaling and strengthens its growth-inhibitory effect but the leukemia-associated fusion protein AML1/MDS1/EVI1, product of the t(3;21), abrogates growth-inhibition in response to TGF-beta1. 10086725 1999
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The functions of EVI1/MEL1 members as transcription factors and the concept of EVI1-positive leukemia as a stem cell disease are also reviewed. 17483069 2007
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Our results underscore the feasibility of FISH as an adjunct to PCR for the identification of EVI1 deranged leukemias and identified EVI1 as the principal transcript expressed in these malignancies. 16342172 2006
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Here, we review the current understanding of the role of Evi1 in controlling the development of leukemia and highlight potential modalities for targeting factors involved in Evi1-regulated signaling. 21795762 2011
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE The EVI-1 gene--its role in pathogenesis of human leukemias. 10867128 2000
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE We demonstrate for the first time that EVI1 acts as a regulator of its own expression, highlighting the complex regulation of EVI1, and open new directions to better understand the mechanisms of EVI1 overexpressing leukemias. 28391050 2017
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE To identify a metabolic inhibitor for EVI1-induced metabolic reprogramming in MLL-r AML, we used an XFp extracellular flux analyzer to examine metabolic changes during leukemia development in mouse models of AML expressing MLL-AF9 and Evi1 (Evi1/MF9). 31649131 2019
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Specific gene activation (N-myc, evi-1) or fusion genes such as the alpha retinoic acid receptor (alpha RAR) and pml have been identified as the specific cause of some cases of leukemia. 1434816 1992
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE This study opens new directions to further understand the mechanisms of EVI1 overexpressing leukemias. 22689058 2013
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE To further define potential roles for EVI-1 in leukemia pathogenesis, we studied its regulation in acute promyelocytic leukemias (APL). 9009083 1997
CUI: C0023418
Disease: leukemia
leukemia
0.100 Biomarker disease BEFREE Steady-state evi-1 transcripts were detected in UCSD/AML1 and murine leukemia M1 cells, but were not present in HL60 or Namalwa human leukemia cells. 1593910 1992