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Updated: Jan 30, 2026

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Mesenchymal Tumors with EWSR1 Gene Rearrangements

Khin Thway1, Cyril Fisher2

  • 1Sarcoma Unit, Royal Marsden Hospital, The Royal Marsden NHS Foundation Trust, 203 Fulham Road, London SW3 6JJ, UK.

Surgical Pathology Clinics
|February 3, 2019
PubMed

Insights

EWSR1 gene rearrangements are common in soft tissue tumors, creating diverse fusion genes. This review details mesenchymal neoplasms linked to these EWSR1 alterations.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Nonrandom chromosomal translocations are hallmarks of various soft tissue neoplasms.
  • The EWSR1 gene is frequently involved in these translocations, forming recurrent fusion genes.
  • These genetic alterations result in a wide range of tumor types with diverse cellular morphologies and stromal characteristics.

Purpose of the Study:

  • To review and summarize mesenchymal neoplasms associated with EWSR1 gene rearrangements.
  • To highlight the spectrum of tumors arising from EWSR1 alterations.
  • To provide an updated overview of EWSR1-related soft tissue neoplasms.

Main Methods:

  • Literature review of studies on soft tissue neoplasms with EWSR1 rearrangements.
  • Analysis of clinical and pathological data from reported cases.
  • Categorization of neoplasms based on EWSR1 fusion partners and histological features.

Main Results:

  • EWSR1 rearrangements are a frequent driver in mesenchymal and nonmesenchymal neoplasms.
  • These rearrangements lead to diverse tumor types, including small round cell, spindle cell, clear cell, and adipocytic tumors.
  • Distinctive myxoid stroma is a variable feature in some EWSR1-associated neoplasms.

Conclusions:

  • EWSR1 gene rearrangements are critical in the pathogenesis of a broad spectrum of soft tissue neoplasms.
  • Understanding EWSR1 alterations aids in the diagnosis and classification of these diverse tumors.
  • Continued research is essential to further elucidate the clinicopathological spectrum of EWSR1-associated mesenchymal neoplasms.
Keywords:
Angiomatoid fibrous histiocytomaClear cell sarcomaDesmoplastic small round cell tumorEWSR1EWSR1–NFATC2Myoepithelial tumorMyxoid liposarcomaSarcoma

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