Unites de Genetique Somatique Cytogenetique

Paris, France

Unites de Genetique Somatique Cytogenetique

Paris, France
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Machado I.,Instituto Valenciano Of Oncologia | Cruz J.,Instituto Valenciano Of Oncologia | Lavernia J.,Instituto Valenciano Of Oncologia | Rubio L.,Instituto Valenciano Of Oncologia | And 7 more authors.
Virchows Archiv | Year: 2013

The present study describes a new case of EWSR1-negative undifferentiated sarcoma with CIC/DUX4 gene fusion. This case is similar to tumors described as primitive undifferentiated round cell sarcomas that occur mainly in the trunk and display an aggressive behavior. To our knowledge, this is the first report of such a tumor presenting locoregional lymph node metastasis. In view of previous studies that prove the existence of a particular variant of undifferentiated sarcoma with Ewing-like morphology and CIC/DUX-4 gene fusion, a search for this gene fusion in all undifferentiated round cell sarcomas should be considered if a conclusive diagnosis cannot be reached following other conventional studies. Although additional cases with more extensive follow-up studies are needed, we believe that EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion should be added to the list of new sarcoma variants with the possibility of lymph node metastasis. © 2013 Springer-Verlag Berlin Heidelberg.

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