MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Disease: Blast Phase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 GeneticVariation disease BEFREE Activation of the EVI-1 oncogene has been reported in acute myeloid leukemia, chronic myeloid leukemia (CML) in blast crisis, and less commonly, in chronic-phase CML patients. 20855863 2010
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 GeneticVariation disease BEFREE Here, we report on a CML patient in blast crisis presenting with a four-way variant t(9;22) rearrangement involving the EVI1 locus. 18613965 2008
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 AlteredExpression disease BEFREE These observations suggested that a myeloid/NK cell precursor might have been involved in the Ph-positive clone and have been a target for blastic transformation of CML, although EVI1 expression is not specific for transformation to BC from myeloid/NK lineage. 15322764 2004
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 AlteredExpression disease BEFREE Reverse transcriptase-polymerase chain reaction detected the TEL/EVI1 transcript without the intervening 5' non-coding exon of EVI1, suggesting that inappropriate expression of the EVI1 protein driven by the TEL promotor could play a critical role in progression to the blast crisis of CML. 11835339 2002
CUI: C0005699
Disease: Blast Phase
Blast Phase 		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: C0005699
Disease: Blast Phase
Blast Phase 		0.100 GeneticVariation disease BEFREE Establishment of a myeloid leukaemia cell line (Kasumi-4) with t(9;22;11)(q34;q11;q13), inv(3)(q21q26) and the EVI1 gene activation from a patient with chronic myelogenous leukaemia in blast crisis. 8611478 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 AlteredExpression disease BEFREE Evi-1 was overexpressed not only in leukemias with 3q26 abnormalities, but, in those without 3q26 abnormalities, especially in blast crisis of CML. 9183665 1996
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 Biomarker disease BEFREE No EVI1 transcripts were detected in patients with acute lymphoid leukemia (n = 15) or CML in lymphoid blast crisis (n = 4). 7780155 1995
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 Biomarker disease BEFREE Here we report the consistent identification of fusion transcripts between AML1 and EAP or between AML1 and previously unidentified sequences that we named MDS1 (MDS-associated sequences) in the leukemic cells of four patients with therapy-related myelodysplasia/acute myeloid leukemia and in one patient with chronic myelogenous leukemia in blast crisis, all of whom had a t(3;21). 8171026 1994
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 AlteredExpression disease BEFREE EVI1 expression associated with a 3q26 anomaly in a leukemia cell line derived from the blast crisis of chronic myeloid leukemia. 7808006 1994
CUI: C0005699
Disease: Blast Phase
Blast Phase 		0.100 GeneticVariation disease BEFREE Expression of the EVI1 gene in chronic myelogenous leukemia in blast crisis. 8412328 1993