Superficial EWSR1-negative undifferentiated small round cell sarcoma with CIC/DUX4 gene fusion: a new variant of Ewing-like tumors with locoregional lymph node metastasis

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• 作者：Isidro Machado (1)
  Julia Cruz (1)
  Javier Lavernia (2)
  Luis Rubio (3)
  Jorge Campos (4)
  María Barrios (5)
  Camille Grison (6)
  Virginie Chene (6)
  Gaelle Pierron (6)
  Olivier Delattre (6)
  Antonio Llombart-Bosch (7)
  
• 关键词：EWSR1 ; negative undifferentiated small round cell sarcoma ; CIC/DUX4 gene fusion ; Locoregional lymph node metastasis
• 刊名：Virchows Archiv
• 出版年：2013
• 出版时间：December 2013
• 年：2013
• 卷：463
• 期：6
• 页码：837-842
• 全文大小：
• 作者单位：Isidro Machado (1)
  Julia Cruz (1)
  Javier Lavernia (2)
  Luis Rubio (3)
  Jorge Campos (4)
  María Barrios (5)
  Camille Grison (6)
  Virginie Chene (6)
  Gaelle Pierron (6)
  Olivier Delattre (6)
  Antonio Llombart-Bosch (7)
  
  1. Pathology Department, Instituto Valenciano de Oncología, Valencia, Spain
  2. Oncology Department, Instituto Valenciano de Oncología, Valencia, Spain
  3. Laboratory of Molecular Biology, Instituto Valenciano de Oncología, Valencia, Spain
  4. Surgery Department, Instituto Valenciano de Oncología, Valencia, Spain
  5. Radiology Department, Instituto Valenciano de Oncología, Valencia, Spain
  6. Unités de Génétique Somatique–Cytogénétique, Paris, France
  7. Pathology Department, University of Valencia, Valencia, Spain
  
• ISSN：1432-2307

文摘

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.