Abstract
A clear cell sarcoma, arising primarily in the ileum of a 35-year-old man, is reported. Histologically, the neoplasm infiltrated the full thickness of the intestinal wall. It consisted of strands and sheets of round to spindle-shaped cells with clear to eosinophilic cytoplasm, vesicular nuclei and prominent nucleoli. Vascular invasion was present at diagnosis. Tumour cells expressed S-100 protein, melan-A and tyrosinase. They were negative for HMB45, CD117, cytokeratins, epithelial membrane antigen, smooth muscle actin, desmin, CD31, CD34, chromogranin and synaptophysin. Reverse transcription–polymerase chain reaction analysis performed on paraffin-embedded tissue showed EWS–ATF1 fusion transcripts representative of the t(12;22) (q13;q12) clear cell sarcoma reciprocal translocation. The patient, who developed liver metastases 2 months after diagnosis, died of disease at 15 months. This case demonstrates that the gastrointestinal tract is a potential site for primary clear cell sarcoma of soft tissues, and, furthermore, that cytogenetics and/or molecular techniques play a central role in the diagnosis.
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Acknowledgements
The authors thank Dr. P. Pauwels and Dr. R. Sciot for updating the follow-up of patients 4 and 6, respectively, and Dr S.Taylor for proofreading.
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Taminelli, L., Zaman, K., Gengler, C. et al. Primary clear cell sarcoma of the ileum: an uncommon and misleading site. Virchows Arch 447, 772–777 (2005). https://doi.org/10.1007/s00428-005-0019-y
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DOI: https://doi.org/10.1007/s00428-005-0019-y