Tannenbaum-Dvir, SarahGlade Bender, Julia L.Church, AlannaJaneway, KatherineHarris, MarianMansukhani, Mahesh M.Nagy, Peter L.Andrews, Stuart J.Murty, Vundavalli V.Kadenhe-Chiweshe, AngelaConnolly, Eileen P.Kung, Andrew L.Dela Cruz, Filemon S.2016-06-142015Tannenbaum-Dvir, S., J. L. Glade Bender, A. J. Church, K. A. Janeway, M. H. Harris, M. M. Mansukhani, P. L. Nagy, et al. 2015. “Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.” Cold Spring Harbor Molecular Case Studies 1 (1): a000471. doi:10.1101/mcs.a000471. http://dx.doi.org/10.1101/mcs.a000471.2373-2865http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320347Abstract We describe the clinical course of a recurrent case of congenital fibrosarcoma diagnosed in a 9-mo-old boy with a history of hemimelia. Following complete surgical resection of the primary tumor, the patient subsequently presented with bulky bilateral pulmonary metastases 6 mo following surgery. Molecular characterization of the tumor revealed the absence of the prototypical ETV6-NTRK3 translocation. However, tumor characterization incorporating cytogenetic, array comparative genomic hybridization, and RNA sequencing analyses, revealed a somatic t(2;15)(2p21;15q25) translocation resulting in the novel fusion of EML4 with NTRK3. Cloning and expression of EML4-NTRK3 in murine fibroblast NIH 3T3 cells revealed a potent tumorigenic phenotype as assessed in vitro and in vivo. These results demonstrate that multiple fusion partners targeting NTRK3 can contribute to the development of congenital fibrosarcoma.en-UScongenital fibrosarcomaabnormality of the musculature of the limbsJournal Article2016-06-1410.1101/mcs.a000471