Primary clear cell sarcoma of the ileum: an uncommon and misleading site.
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.
Taminelli
Lorenzo
L
Department of Pathology, University Hospital, Lausanne, Switzerland.
Zaman
Khalil
K
Gengler
Carole
C
Peloponissios
Nicolas
N
Bouzourene
Hanifa
H
Coindre
Jean-Michel
JM
Hostein
Isabelle
I
Guillou
Louis
L
D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D017809:Fatal Outcome; D006801:Humans; D007078:Ileal Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D007150:Immunohistochemistry; D008113:Liver Neoplasms / Q000556:secondary; D008297:Male; D015514:Oncogene Proteins, Fusion; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018227:Sarcoma, Clear Cell / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion