ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Congenital Mesoblastic Nephroma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE This review addresses three main neoplastic categories that are associated with specific paraneoplastic phenomena: (1) neoplasms having in common the presence of diffuse mixed inflammatory infiltration (closely simulating an inflammatory pseudotumor) and frequently associated with constitutional symptoms; (2) neoplasms with undifferentiated, anaplastic or rhabdoid cell morphology (frequently SWI/SNF-deficient) associated with diverse paraneoplastic manifestations; and (3) paraneoplasia associated with neoplasms carrying specific gene fusions such as solitary fibrous tumor (STAT6-NAB2 gene fusions), infantile fibrosarcoma and congenital mesoblastic nephroma (ETV6-NTRK3 gene fusions), and angiomatoid fibrous histiocytoma (EWSR1-CREB1 & EWSR1-ATF1 fusions). 30819530 2019
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 Biomarker disease BEFREE The growing spectrum of gene fusions associated with infantile fibrosarcoma and congenital mesoblastic nephroma along with the recent availability of targeted therapies directed toward inhibition of NTRK signaling argue for alternate testing strategies beyond ETV6 break-apart FISH. 29099503 2018
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE Seventeen out of 29 (58%) cellular MN harbored the ETV6-NTRK3 translocation. 29286563 2018
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE Fluorescence in situ hybridisation (FISH) testing for ETV6-NTRK3 gene fusion/rearrangement revealed further differentiation between the subtypes with ETV6-NTRK3 gene fusion detected in 0/5 of the classic MN, 8/8 of the cellular MN and 5/6 of the mixed MN cohorts, respectively. 27020209 2016
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 AlteredExpression disease BEFREE Expression of ETV6-NTRK in classical, cellular and mixed subtypes of congenital mesoblastic nephroma. 16681692 2006
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 FusionGene disease ORPHANET Expression of ETV6-NTRK in classical, cellular and mixed subtypes of congenital mesoblastic nephroma. 16681692 2006
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE The cellular variant of congenital mesoblastic nephroma (but not the classic variant) has been shown to bear the same t(12;15)(p13;q25) and ETV6-NTRK3 gene fusion as infantile fibrosarcoma, a tumor with which it shares morphologic and clinical features. 12973047 2003
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 FusionGene disease ORPHANET In the present fluorescence in situ hybridization (FISH) study of six congenital mesoblastic nephromas (CMNs) using ETV6 and NTRK3 probes as well as a chromosome 15 painting probe, we identified a cryptic reciprocal translocation, t(12;15)(p13;q26), in one tumor, and an insertion, ins(12;15)(p13;q22q26), in another that were not previously identified by cytogenetic analysis. 12165445 2002
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE In the present fluorescence in situ hybridization (FISH) study of six congenital mesoblastic nephromas (CMNs) using ETV6 and NTRK3 probes as well as a chromosome 15 painting probe, we identified a cryptic reciprocal translocation, t(12;15)(p13;q26), in one tumor, and an insertion, ins(12;15)(p13;q22q26), in another that were not previously identified by cytogenetic analysis. 12165445 2002
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE Recently, a t(12;15)(p13;q25) resulting in ETV6-NTRK3 gene fusion was detected in patients with IFS and in patients with the cellular type of CMN, suggesting a common pathogenetic pathway. 11743047 2001
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE We report the development of a reverse transcriptase polymerase chain reaction assay that reliably detects the ETV6-NTRK3 chimeric RNA characteristic of infantile fibrosarcoma and the cellular variant of congenital mesoblastic nephroma (CMN) in formalin-fixed, paraffin-embedded tissue blocks. 10658907 2000
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE We report ETV6-NTRK3 fusion transcripts and/or ETV6-region rearrangement in five of six CMNs and in five of five CFSs. 9811336 1998
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		0.400 GeneticVariation disease BEFREE Moreover, we found trisomy 11 only in cellular or mixed CMNs with the ETV6-NTRK3 gene fusion. 9823307 1998