DESMOPLASTIC SMALL ROUND CELL TUMOR: A RARE CAUSE OF A PROGRESSIVE BRACHIAL PLEXOPATHY

作者：Mathys Jan; Vajtai Istvan; Voegelin Esther; Zimmermann Dieter R; Ozdoba Christoph; Hewer Ekkehard^*

来源：Muscle & Nerve, 2014, 49(6): 922-927.

DOI：10.1002/mus.24165

• brachial plexopathy
• desmoplastic small round cell tumor
• EWSR1
• WT1 fusion nerve biopsy
• positron emission tomography

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 previously. 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. Conclusions: 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. Muscle Nerve49: 922-927, 2014

• 出版日期2014-6