ETV6-NTRK3 gene fusion

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ETV6-NTRK3 gene fusion is the translocation of genetic material between chromosomes 12 and 15 (t(12;15)). This creates a new gene in which the 5' region of ETV6 is fused to the 3' region of NTRK3.[1] The resulting transcript encodes and chimeric oncoprotein consisting of the helix-loop-helix (HLH) protein dimerization domain of ETV6 fused to the protein tyrosine kinase (PTK) domain of NTRK3.[2]

The ETV6-NTRK3 gene fusion was originally identified in congenital fibrosarcoma [1] but has since been identified in breast cancer.[3]


  1. ^ a b Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH (18 Feb 1998). "A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma". Nat Genet 18 (2): 184–7. doi:10.1038/ng0298-184. PMID 9462753. 
  2. ^ Wai DH, Knezevich SR, Lucas T, Jansen B, Kay RJ, Sorensen PH (Feb 17, 2000). "The ETV6-NTRK3 gene fusion encodes a chimeric protein tyrosine kinase that transforms NIH3T3 cells". Oncogene 19 (19(7)): 906–15. doi:10.1038/sj.onc.1203396. PMID 10702799. 
  3. ^ Tognon C, Knezevich SR, Huntsman D, Roskelley CD, Melnyk N, Mathers JA, Becker L, Carneiro F, MacPherson N, Horsman D, Poremba C, Sorensen PH (Nov 2002). "Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma". Cancer Cell 2 (5): 367–76. doi:10.1016/S1535-6108(02)00180-0. PMID 12450792.