Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma.
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.
['Tannenbaum-Dvir|Sarah|S|', 'Glade Bender|Julia L|JL|', 'Church|Alanna J|AJ|', 'Janeway|Katherine A|KA|', 'Harris|Marian H|MH|', 'Mansukhani|Mahesh M|MM|', 'Nagy|Peter L|PL|', 'Andrews|Stuart J|SJ|', 'Murty|Vundavalli V|VV|', 'Kadenhe-Chiweshe|Angela|A|', 'Connolly|Eileen P|EP|', 'Kung|Andrew L|AL|', 'Dela Cruz|Filemon S|FS|']
congenital fibrosarcoma abnormality of the musculature of the limbs