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Intraabdominal desmoplastic small round cell tumor with EWS/ERG fusion transcript
1Department of Pathology, IDIBAPS Hospital Clínic, Facultat de Medicina, Universitat de Barcelona, Spain.
The American Journal of Surgical Pathology
|August 26, 1998
Summary
This study reports a rare hybrid tumor with features of desmoplastic small round cell tumor and Ewing's sarcoma, identified by a unique EWS/ERG fusion gene. This finding highlights molecular overlap between these distinct small cell tumor groups.
Area of Science:
- Oncology
- Molecular Pathology
- Genetics
Background:
- Desmoplastic small round cell tumor (DSRCT) and Ewing's sarcoma/peripheral primitive neuroectodermal tumor (ES/PNET) are distinct small cell tumor groups.
- Accurate diagnosis relies on clinical, morphological, and immunohistochemical features, often supplemented by molecular analysis.
Observation:
- A 37-year-old woman presented with an intraabdominal small cell tumor.
- Immunohistochemistry showed a polyphenotypic profile including keratin, EMA, NSE, vimentin, desmin, and CD99.
- Molecular analysis revealed an EWS/ERG fusion transcript, characteristic of ES/PNET, not the typical EWS/WT1 fusion of DSRCT.
Findings:
- The case represents a hybrid tumor with features of both DSRCT and ES/PNET.
- This is the third reported hybrid tumor and the first with an EWS/ERG fusion.
- The findings suggest an overlap between DSRCT and ES/PNET, challenging their distinct histogenetic origins.
Implications:
- This case underscores the importance of molecular characterization in diagnosing small cell tumors, particularly those with atypical features.
- Further research into the molecular basis of small cell tumors is needed to understand potential histogenetic links.
- The presence of EWS/ERG fusion in a DSRCT-like tumor broadens the molecular spectrum of small round cell tumors.