Case of the Month
Desmoplastic small round cell tumor: A rare cause of a progressive brachial plexopathy
Copyright © 2014 Wiley Periodicals, Inc., a Wiley company
- Accepted manuscript online: 7 JAN 2014 04:16AM EST
- Manuscript Accepted: 3 JAN 2014
- Manuscript Revised: 31 DEC 2013
- Manuscript Received: 14 AUG 2013
- Department of Nuclear Medicine, Inselspital, Bern University Hospital and University of Bern
- Institute of Pathology, University of Bern
- Cited By
- Desmoplastic small round cell tumor;
- brachial plexopathy;
- nerve biopsy;
- Positron Emission Tomography;
- EWSR1/WT1 fusion
Introduction: Desmoplastic small round cell tumor (DSRCT) is an uncommon, embryonic-type neoplasm, typically presenting as an abdominal mass in young men. A single case of DSRCT arising in the peripheral nervous system has been reported.
Methods: The clinical course, imaging, electrophysiological, intraoperative, histopathological, molecular findings, and postoperative follow-up are reported.
Results: A 43-year-old man presented with slowly progressive right brachial plexopathy. Magnetic resonance imaging revealed an enlarged medial cord with heterogeneous contrast enhancement. Histology showed a “small round cell” neoplasm with a polyphenotypic immunoprofile, including epithelial and mesenchymal markers. A pathognomonic fusion of Ewing sarcoma breakpoint region 1 and Wilms tumor 1 genes (EWSR1/WT1) was present. Treatment involved gross total excision and local radiotherapy.
Conclusion: Our findings confirm the occurrence of DSRCT as a primary peripheral nerve tumor. Despite its usually very aggressive clinical course, prolonged recurrence-free survival may be reached. Histomorphology and immunoprofile of DSRCT may lead to misdiagnosis as small cell carcinoma. © 2013 Wiley Periodicals, Inc.