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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Adamantinoma-like Ewing's sarcoma: genomic confirmation, phenotypic drift
J A Bridge1, M E Fidler, J R Neff
1Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198-5440, USA.
The American Journal of Surgical Pathology
|February 16, 1999
Summary
This study identifies a new variant of Ewing's sarcoma, termed "adamantinoma-like Ewing's sarcoma." This rare subtype exhibits epithelial features and the characteristic 11;22 translocation found in typical Ewing's sarcoma.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Ewing's sarcoma is a malignant neoplasm defined by the 11;22 translocation.
- Adamantinoma, a low-grade bone tumor with epithelial features, is usually distinct from Ewing's sarcoma.
- Distinguishing these tumors can be challenging without molecular analysis.
Observation:
- Three cases of Ewing's sarcoma with epithelial characteristics were analyzed.
- Genetic analysis confirmed the 11;22 translocation and EWS/FLI-1 fusion transcript in all cases.
- Combined cytogenetic and immunocytochemical methods detected the translocation in cytokeratin-positive cells.
Findings:
- A novel histologic variant, "adamantinoma-like Ewing's sarcoma," was identified.
- This variant shares the defining molecular rearrangement (11;22 translocation) with conventional Ewing's sarcoma.
- The presence of epithelial features (cytokeratin expression) in these Ewing's sarcoma cases was confirmed.
Implications:
- This finding expands the spectrum of Ewing's sarcoma histologic subtypes.
- It highlights the importance of molecular testing in diagnosing challenging bone neoplasms.
- Accurate diagnosis is crucial for appropriate treatment and prognosis of Ewing's sarcoma.
