--- a +++ b/README.md @@ -0,0 +1,28 @@ + <h1>Characterization of a Novel Fusion Gene EML4-NTRK3 in a Case of Recurrent Congenital Fibrosarcoma</h1> + + <h2>Data from</h2> + <p> + Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma + </p> + + <h2>Creators</h2> + <ul> + <li>Tannenbaum-Dvir, Sarah<sup>1</sup></li> + <li>Glade Bender, Julia L.<sup>1</sup></li> + <li>Church, Alanna J.<sup>2</sup></li> + <li>Janeway, Katherine A.<sup>2</sup></li> + <li>Harris, Marian H.<sup>2</sup></li> + <li>Mansukhani, Mahesh M.<sup>1</sup></li> + <li>Nagy, Peter L.<sup>1</sup></li> + <li>Andrews, Stuart J.<sup>1</sup></li> + <li>Murty, Vundavalli V.<sup>1</sup></li> + <li>Kadenhe-Chiweshe, Angela<sup>1</sup></li> + <li>Connolly, Eileen P.<sup>3</sup></li> + <li>Kung, Andrew L.<sup>1</sup></li> + <li>Dela Cruz, Filemon S.<sup>1</sup></li> + </ul> + + <h2>Description</h2> + <p> + 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. + </p> \ No newline at end of file