ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE The presence of eosinophilia in acute myeloid leukemia (AML) suggests an underlying core binding factor (CBF) lesion, a platelet derived growth factor (PDGFR) translocation, or another rare translocation (such as ETV6-ABL1). 30948162 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE FMS-like tyrosine kinase-3 fragments from exon 14 to the end without any mutations or deletions have been reported to fuse to ETV6 (TEL) in a few cases of myeloid/lymphoid neoplasms with eosinophilia carrying a translocation t(12;13)(p13;q12). 29471895 2018
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE We report here 2 male patients with ETV6-FLT3(+) myeloid/lymphoid neoplasms with eosinophilia who were treated with the multitargeted TK inhibitors sunitinib and sorafenib. 21705501 2011
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 Biomarker disease BEFREE The fusion of TEL with platelet-derived growth factor receptor (PDGFR) beta (TPbeta) is found in a subset of patients with atypical myeloid neoplasms associated with eosinophilia and is the archetype of a larger group of hybrid receptors that are produced by rearrangements of PDGFR genes. 20164181 2010
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE Myeloproliferative disorder with eosinophilia and ETV6-ABL gene rearrangement: efficacy of second-generation tyrosine kinase inhibitors. 19394693 2009
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE Fluorescence in situ hybridization (FISH) and reverse-transcription polymerase chain reaction (RT-PCR) detected the ETV6-PDGFRB fusion in a patient with chronic myelomonocytic leukemia characterized by bone marrow and peripheral blood eosinophilia and a four-way t(1;12;5;12)(p36;p13;q33;q24) on bone marrow cells. 17574967 2007
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 AlteredExpression disease BEFREE Three of the four patients presented with leukocytosis and eosinophilia; their leukemia cells carried the ETV6-PDGFRB fusion gene. 12181402 2002
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature. 12505259 2002
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease LHGDN Chronic myelocytic leukemia with eosinophilia, t(9;12)(q34;p13), and ETV6-ABL gene rearrangement: case report and review of the literature. 12505259 2002
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE We identified a novel human long fatty acyl CoA synthetase 2 gene, ACS2, as a new ETV6 fusion partner gene in a recurrent t(5;12)(q31;p13) translocation in a patient with refractory anemia with excess blasts (RAEB) with basophilia, a patient with acute myelogenous leukemia (AML) with eosinophilia, and a patient with acute eosinophilic leukemia (AEL). 10502316 1999
CUI: C0014457
Disease: Eosinophilia
Eosinophilia
0.100 GeneticVariation disease BEFREE Clinicohematological data in these studies as well as the restriction mapping of chromosomal breakpoints strongly suggest that (1) common features in MDSs involving the TEL gene are monocytosis and eosinophilia, (2) chromosomes other than no. 7742547 1995