DSRCT

What it is

Overview

Desmoplastic Small Round Cell Tumor (DSRCT) is an extremely rare and highly aggressive malignancy that primarily arises in the abdominal and pelvic cavity of adolescent males. It is characterized by a specific chromosomal translocation t(11;22)(p13;q12) producing the EWSR1-WT1 fusion protein. DSRCT typically presents at an advanced stage with widespread peritoneal involvement, and the prognosis remains dire despite aggressive treatment.

Biology

How It Develops

The EWSR1-WT1 fusion protein acts as an aberrant transcription factor driving expression of oncogenic targets including PDGFRA, MET, and IGF1R. This creates rapidly proliferating cells embedded in a dense fibrous stroma (desmoplastic reaction). Peritoneal seeding is almost universal at diagnosis, making complete surgical resection extremely difficult.

Warning signs

Symptoms

• —Abdominal distension and pain
• —Palpable abdominal mass
• —Constipation or bowel obstruction
• —Ascites
• —Weight loss and fatigue

Detection

Diagnosis Methods

• —CT and MRI of abdomen and pelvis
• —Biopsy with RT-PCR or FISH for EWSR1-WT1 fusion
• —PET scan
• —Bone marrow biopsy

Medical care

Treatment Options

• —Multi-agent chemotherapy (EWING protocol: VAC/IE)
• —Aggressive cytoreductive surgery (highly specialized centers only)
• —HIPEC (heated intraperitoneal chemotherapy) in select cases
• —Radiation therapy (whole abdominopelvic radiation at some centers)
• —Clinical trials (there is no standard of care due to rarity)

Data

Statistics

Prevention

Risk Factors

• —Male sex (8:1 male-to-female ratio)
• —Adolescent and young adult age
• —No known environmental or hereditary risk factors

Further reading

Resources