Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma
Glade Bender, Julia L.
Mansukhani, Mahesh M.
Nagy, Peter L.
Andrews, Stuart J.
Murty, Vundavalli V.
Connolly, Eileen P.
Kung, Andrew L.
Dela Cruz, Filemon S.Note: Order does not necessarily reflect citation order of authors.
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CitationTannenbaum-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.
AbstractAbstract 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.
Citable link to this pagehttp://nrs.harvard.edu/urn-3:HUL.InstRepos:27320347
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