ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Somatotrophinoma, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		0.040 GeneticVariation disease BEFREE Fluorescence in situ hybridization showed positive result in ETV6 gene rearrangements.The final diagnosis was IFS. 28478739 2019
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		0.040 GeneticVariation disease BEFREE We investigated the presence or absence of ETV6 rearrangements and numerical abnormalities of chromosome 11 by using fluorescence in situ hybridization on paraffin-embedded material from five cases of IFS, two of CMN, and one of mixed type (CMN and IFS) found in our files. 11743047 2001
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		0.040 GeneticVariation disease BEFREE Selective TRK inhibition by larotrectinib offers a novel, highly specific and highly effective therapeutic option for IFS carrying the characteristic ETV6-NTRK3 gene fusion. 31738425 2019
CUI: C3489630
Disease: Somatotrophinoma, Familial
Somatotrophinoma, Familial 		0.040 GeneticVariation disease BEFREE We report a case of refractory IFS with constitutive activation of the tropomyosin-related kinase (TRK) signaling pathway from an ETS variant gene 6-neurotrophin 3 receptor gene (ETV6-NTRK3) gene fusion. 27093299 2016