Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

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Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma

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Title: Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma
Author: Tannenbaum-Dvir, Sarah; Glade Bender, Julia L.; Church, Alanna J.; Janeway, Katherine A.; Harris, Marian H.; Mansukhani, Mahesh M.; Nagy, Peter L.; Andrews, Stuart J.; Murty, Vundavalli V.; Kadenhe-Chiweshe, Angela; Connolly, Eileen P.; Kung, Andrew L.; Dela Cruz, Filemon S.

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Citation: Tannenbaum-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.
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Abstract: Abstract 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.
Published Version: doi:10.1101/mcs.a000471
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850889/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:27320347
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