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Virchows Archiv

, Volume 463, Issue 6, pp 837–842 | Cite as

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

  • Isidro Machado
  • Julia Cruz
  • Javier Lavernia
  • Luis Rubio
  • Jorge Campos
  • María Barrios
  • Camille Grison
  • Virginie Chene
  • Gaelle Pierron
  • Olivier Delattre
  • Antonio Llombart-Bosch
Case Report

Abstract

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.

Keywords

EWSR1-negative undifferentiated small round cell sarcoma CIC/DUX4 gene fusion Locoregional lymph node metastasis 

Notes

Acknowledgment

The authors thank David Harrison for assistance with the English edition.

Conflict of interest

None

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • 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. 1.Pathology DepartmentInstituto Valenciano de OncologíaValenciaSpain
  2. 2.Oncology DepartmentInstituto Valenciano de OncologíaValenciaSpain
  3. 3.Laboratory of Molecular BiologyInstituto Valenciano de OncologíaValenciaSpain
  4. 4.Surgery DepartmentInstituto Valenciano de OncologíaValenciaSpain
  5. 5.Radiology DepartmentInstituto Valenciano de OncologíaValenciaSpain
  6. 6.Unités de Génétique Somatique–CytogénétiqueParisFrance
  7. 7.Pathology DepartmentUniversity of ValenciaValenciaSpain

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