Peritoneal Desmoplastic Small Round Cell Tumor on FDG PET/CT.
Chengtao Feng, Ran Xie, Kesheng Zhou et al.
✦ AI-curated · Sources linked
Case in brief
A 21-year-old man presented with intermittent abdominal pain and distension. Contrast-enhanced CT and 18F-FDG PET/CT showed diffuse peritoneal thickening and multiple hypermetabolic masses, prompting concern for malignancy. Biopsy revealed nests of small round blue cells in desmoplastic stroma. FISH identified an EWSR1-WT1 gene fusion, confirming desmoplastic small round cell tumor (DSRCT).
What made this case unusual
The extensive peritoneal disease in a young man was ultimately identified as DSRCT through molecular confirmation of the EWSR1-WT1 fusion.
Diagnostic / clinical pearl
In a young man with extensive peritoneal involvement and small round blue cells in desmoplastic stroma, consider DSRCT and use molecular testing to confirm the diagnosis.