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Updates on WHO classification for small round cell tumors: Ewing sarcoma vs. everything else.

Carina A Dehner1, Alexander J Lazar2, John S A Chrisinger3

  • 1Department of Anatomic Pathology and Laboratory Medicine, Indiana University, 635 Barnhill Drive, Indianapolis, IN, 46202, USA.

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Diagnosing rare undifferentiated small round cell sarcomas is challenging. This review covers Ewing sarcoma and other rare types, detailing their features and diagnostic difficulties.

Keywords:
BCORCICEwing sarcomaEwing-likeNFATc2PATZ1ReviewRound cell

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • The WHO Classification identifies four types of undifferentiated small round cell sarcoma.
  • These rare tumors present diagnostic challenges due to overlapping features.

Purpose of the Study:

  • To review the clinical, histologic, immunohistochemical, and molecular characteristics of these rare sarcomas.
  • To discuss diagnostic challenges, differential diagnoses, and areas for future research.

Main Methods:

  • Literature review of clinical, histologic, immunohistochemical, and molecular data.
  • Synthesis of information on four categories of small round cell sarcoma.

Main Results:

  • Ewing sarcoma, EWSR1-non-ETS fusion sarcomas (NFATc2, PATZ1), CIC-rearranged sarcoma, and BCOR-altered sarcomas are distinct entities.
  • Morphologic and immunohistochemical overlap necessitates molecular testing for definitive diagnosis.
  • Molecular testing has associated pitfalls.

Conclusions:

  • Accurate diagnosis requires integrating clinical, histologic, immunohistochemical, and molecular findings.
  • Further research is needed to clarify diagnostic uncertainties and improve management.