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Related Experiment Videos

Esophageal extraskeletal Ewing's sarcoma.

Chihaya Maesawa1, Sin Iijima, Nobuhiro Sato

  • 1Department of Pathology, Iwate Medical University School of Medicine, Morioka, Japan.

Human Pathology
|February 2, 2002
PubMed
Summary

This study reports the first case of extraskeletal Ewing's sarcoma in the esophagus, a rare small round cell tumor. Molecular analysis confirmed an EWSR1/ERG gene fusion, adding a new entity to esophageal tumors.

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Area of Science:

  • Oncology
  • Pathology
  • Genetics

Background:

  • Extraskeletal Ewing's sarcoma (EES) is a rare malignant neoplasm.
  • Commonly occurs in the trunk, extremities, and retroperitoneum.
  • Characterized by specific chromosomal translocations, such as EWSR1/FLI1 or EWSR1/ERG, and MIC2/CD99 overexpression.

Observation:

  • A 56-year-old male presented with a polypoid tumor in the lower esophagus.
  • Histopathological examination revealed small round cells with fibrillar cytoplasmic processes and intracytoplasmic glycogen.
  • Immunohistochemistry showed positive membrane staining for MIC2/CD99.

Findings:

  • Molecular genetic analysis identified an EWSR1/ERG chimeric transcript (EWSR1 exon 10 fused with ERG exon 6).
  • This molecular finding, combined with immunohistochemical results, confirmed the diagnosis of esophageal extraskeletal Ewing's sarcoma.

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  • The tumor exhibited features typical of Ewing's sarcoma family of tumors.

    • Implications:

    • This case represents the first documented instance of extraskeletal Ewing's sarcoma originating in the esophagus.
    • Adds a new differential diagnosis for esophageal small round cell tumors.
    • Highlights the importance of comprehensive immunohistochemical and molecular testing for accurate tumor classification and potential therapeutic targeting.