{"data":{"id":"10.7916/d8-qx0f-xz33","type":"dois","attributes":{"doi":"10.7916/d8-qx0f-xz33","prefix":"10.7916","suffix":"d8-qx0f-xz33","identifiers":[],"alternateIdentifiers":[],"creators":[{"name":"Tannenbaum-Dvir, Sarah","nameType":"Personal","givenName":"Sarah","familyName":"Tannenbaum-Dvir","affiliation":[],"nameIdentifiers":[]},{"name":"Glade Bender, Julia L.","nameType":"Personal","givenName":"Julia L.","familyName":"Glade Bender","affiliation":[],"nameIdentifiers":[]},{"name":"Church, Alanna J.","nameType":"Personal","givenName":"Alanna J.","familyName":"Church","affiliation":[],"nameIdentifiers":[]},{"name":"Janeway, Katherine A.","nameType":"Personal","givenName":"Katherine A.","familyName":"Janeway","affiliation":[],"nameIdentifiers":[]},{"name":"Harris, Marian H.","nameType":"Personal","givenName":"Marian H.","familyName":"Harris","affiliation":[],"nameIdentifiers":[]},{"name":"Mansukhani, Mahesh M.","nameType":"Personal","givenName":"Mahesh M.","familyName":"Mansukhani","affiliation":[],"nameIdentifiers":[]},{"name":"Nagy, Peter L.","nameType":"Personal","givenName":"Peter L.","familyName":"Nagy","affiliation":[],"nameIdentifiers":[]},{"name":"Andrews, Stuart J.","nameType":"Personal","givenName":"Stuart J.","familyName":"Andrews","affiliation":[],"nameIdentifiers":[]},{"name":"Vundavalli, Murty V.","nameType":"Personal","givenName":"Murty V.","familyName":"Vundavalli","affiliation":[],"nameIdentifiers":[]},{"name":"Kadenhe-Chiweshe, Angela","nameType":"Personal","givenName":"Angela","familyName":"Kadenhe-Chiweshe","affiliation":[],"nameIdentifiers":[]},{"name":"Connolly, Eileen Patricia","nameType":"Personal","givenName":"Eileen Patricia","familyName":"Connolly","affiliation":[],"nameIdentifiers":[]},{"name":"Kung, Andrew L.","nameType":"Personal","givenName":"Andrew L.","familyName":"Kung","affiliation":[],"nameIdentifiers":[]},{"name":"Cruz, Filemon S. Dela","nameType":"Personal","givenName":"Filemon S. Dela","familyName":"Cruz","affiliation":[],"nameIdentifiers":[]}],"titles":[{"title":"Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma"}],"publisher":"Columbia University","container":{"type":"Series","identifier":"2373-2873","identifierType":"ISSN"},"publicationYear":2015,"subjects":[{"subject":"Genomics"},{"subject":"Cytogenetics"},{"subject":"Cancer"},{"subject":"Sarcoma"},{"subject":"Case studies"}],"contributors":[],"dates":[{"date":"2019-08-09","dateType":"Created"},{"date":"2019-08-28","dateType":"Updated"},{"date":"2015","dateType":"Issued"}],"language":null,"types":{"ris":"RPRT","bibtex":"article","citeproc":"article-journal","schemaOrg":"ScholarlyArticle","resourceType":"Articles","resourceTypeGeneral":"Text"},"relatedIdentifiers":[{"relationType":"IsPartOf","relatedIdentifier":"2373-2873","relatedIdentifierType":"ISSN"},{"relationType":"IsPartOf","relatedIdentifierType":"ISBN"},{"relationType":"IsVariantFormOf","relatedIdentifier":"10.1101/mcs.a000471","relatedIdentifierType":"DOI"}],"relatedItems":[],"sizes":[],"formats":[],"version":null,"rightsList":[],"descriptions":[{"description":"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.","descriptionType":"Abstract"}],"geoLocations":[],"fundingReferences":[],"xml":"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