ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Infantile fibrosarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Rapid, complete and sustained tumour response to the TRK inhibitor larotrectinib in an infant with recurrent, chemotherapy-refractory infantile fibrosarcoma carrying the characteristic ETV6-NTRK3 gene fusion. 31738425 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. 30187166 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Pediatric mesenchymal tumors harboring variant NTRK fusions (ETV6-negative) are being increasingly described; however, the histologic and clinical features of these variant NTRK tumors and their relationship to classic infantile fibrosarcoma are not well characterized. 30585824 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Infantile fibrosarcoma and congenital mesoblastic nephroma are tumors of infancy traditionally associated with the ETV6-NTRK3 gene fusion. 29099503 2018
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE The ETV6-NTRK3 (EN) fusion has been implicated in various cancers, including infantile fibrosarcoma, secretory breast carcinoma, and acute myeloblastic leukemia, and has exhibited in vivo and in vitro transforming ability. 29391602 2018
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE Infantile fibrosarcoma is characterised by intersecting fascicles of spindle cells and ETV6-NTRK3 gene fusion in most cases. 29863809 2018
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE ETV6-NTRK3 rearrangements have been described in secretory breast carcinoma and congenital fibrosarcoma. 21401966 2011
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Remarkably, this entity is the only epithelial tumor of the breast with a balanced translocation, t(12;15), that creates an ETV6-NTRK3 gene fusion encoding chimeric tyrosine kinase also encountered in cellular mesoblastic nephroma and infantile fibrosarcoma. 19011601 2009
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE In two exceptional instances, the same translocation and gene fusion occurs in two unrelated diseases: ETV6-NTRK fusion in infantile fibrosarcoma and secretory carcinoma of the breast, and ALK-TPM3 fusion in inflammatory myofibroblastic tumor and large cell anaplastic lymphoma. 17163160 2006
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE The ETV6-NTRK3 (TEL-TRKC) gene fusion was discovered by breakpoint analysis of the t(12;15)(p13;q25) translocation associated with congenital fibrosarcoma, a pediatric soft tissue malignancy. 15826836 2005
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 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: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE As in congenital fibrosarcoma (CFS), two Tel-ETV6/ TrkC-NTRK3 fusion transcripts different by a 42 bp insert in the TrkC kinase domain were expressed. 12650516 2003
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Molecular detection of the ETV6-NTRK3 gene fusion differentiates congenital fibrosarcoma from other childhood spindle cell tumors. 10895816 2000
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Signal transduction and transforming properties of the TEL-TRKC fusions associated with t(12;15)(p13;q25) in congenital fibrosarcoma and acute myelogenous leukemia. 10775267 2000
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE Detection of the ETV6-NTRK3 chimeric RNA of infantile fibrosarcoma/cellular congenital mesoblastic nephroma in paraffin-embedded tissue: application to challenging pediatric renal stromal tumors. 10658907 2000
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE The E-26 transforming specific (ETS)-related gene TEL, also known as ETV6, encodes a strong transcription repressor that is rearranged in several recurring chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. 10544023 1999
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE The E-26 transforming specific (ETS)-related gene TEL, also known as ETV6, is involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. 10377438 1999
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 GeneticVariation disease BEFREE Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. 9811336 1998
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE ETV6-NTRK3 gene fusions and trisomy 11 establish a histogenetic link between mesoblastic nephroma and congenital fibrosarcoma. 9823307 1998
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		0.100 Biomarker disease BEFREE A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. 9462753 1998