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Related Experiment Video

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[Ewing sarcomas and Ewing-like sarcomas : New aspects].

K Specht1, W Hartmann2

  • 1Institut für Allgemeine Pathologie und Pathologische Anatomie, Technische Universität München, Ismaninger Str. 22, 81675, München, Deutschland. katja.specht@tum.de.

Der Pathologe
|February 27, 2018
PubMed
Summary

Ewing family of tumors and related round cell sarcomas present diagnostic challenges due to diverse genetics and morphology. Advanced molecular work-up is crucial for accurate subclassification and future therapeutic decisions.

Keywords:
EWSR1Ewing SarcomaGene rearrangementPeripheral primitive neuroectodermal tumorsRound cell sarcoma

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Area of Science:

  • Oncology
  • Molecular Pathology
  • Genetics

Background:

  • Ewing family of tumors (EFTs) are aggressive pediatric and young adult neoplasms.
  • Classical EFTs feature specific gene fusions (EWSR1/FUS with ETS family genes).
  • Ewing-like sarcomas and undifferentiated round cell sarcomas exhibit distinct genetic alterations and broader morphology.

Purpose of the Study:

  • To review the molecular landscape of EFTs and related entities.
  • To highlight diagnostic complexities arising from heterogeneous genetic profiles and morphology.
  • To emphasize the need for advanced molecular diagnostics in classifying these rare tumors.

Main Methods:

  • Review of genetic rearrangements in EFTs and related sarcomas.
  • Analysis of morphologic spectrum and immunohistochemical profiles.
  • Discussion of molecular work-up strategies including gene fusion detection.

Main Results:

  • Classical EFTs are defined by EWSR1/FUS-ETS gene fusions.
  • Ewing-like sarcomas involve EWSR1 rearrangements with non-ETS genes.
  • Undifferentiated round cell sarcomas include CIC-DUX4 fusions or BCOR alterations, presenting unique gene expression signatures.
  • Morphologic and immunohistochemical features (e.g., CD99 positivity) can be inconsistent, complicating diagnosis.

Conclusions:

  • Accurate diagnosis of EFTs and related round cell sarcomas requires a comprehensive molecular approach.
  • Distinct molecular subgroups necessitate further investigation for targeted therapies.
  • Ongoing research aims to refine molecular subclassification for improved patient management.