MalignantSoft tissue
Desmoplastic Small Round Cell Tumour
Synonyms: DSRCT
EWSR1-WT1 fusion is pathognomonic
Quick Facts
Behaviour
Malignant
Category
Soft tissue
Grade
High
Synonyms
DSRCT
Category
Soft tissue
Behaviour
Malignant
Grade
High
Gender
Male (4:1)
Tissue of Origin
Unknown
Epidemiology
- Rare aggressive sarcoma
- Young males most commonly affected (median age 22 years)
Clinical Features
- Abdominal pain and distension
- Ascites
- Bowel obstruction
- Often presents with widespread abdominal disease
Location
- Peritoneal cavity (classic)
- Retroperitoneum
- Pleura
- Rarely soft tissue or bone
Imaging
- CT: multiple peritoneal masses with ascites, widespread peritoneal disease typical
- PET-CT: avid uptake
- MRI: low signal intensity on T2-weighted MRI due to the dense fibrous stroma
Pathology
Small round cells in nests within desmoplastic collagen stroma
Genetics
EWSR1-WT1 fusion t(11;22)(p13;q12) is pathognomonic
Treatment
- Intensive multiagent chemotherapy (P6 protocol)
- Cytoreductive surgery where feasible
- Hyperthermic intraperitoneal chemotherapy (HIPEC) under investigation
Prognosis
- Very poor - 5-year survival 15-25%
- Most patients have widespread disease at diagnosis
- High relapse rate
Key Points
- EWSR1-WT1 fusion is pathognomonic
- Young males with peritoneal disease
- Multilineage IHC expression (expresses markers of all three germ layers: epithelial, mesenchymal, and neural
- Very poor prognosis
Workup - Blood Tests
- FBC, U&E, LFTs
- LDH - prognostic marker
- Ca-125
Workup - Local Imaging
- CT chest/abdomen/pelvis
- MRI with contrast if paratesticular involvement
Workup - Biopsy
Core needle biopsy
Workup - Staging
PET-CT
Follow-up Summary
Medical disclaimer
The content on Sarcopedia is for educational and informational purposes only and does not constitute medical advice. It is not intended to be a substitute for professional medical diagnosis or treatment. Always consult with a qualified physician regarding any health concerns or before starting any new treatment. Reliance on any information provided on this site is solely at your own risk.