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Desmoplastic small round cell tumor: A rare cause of a progressive brachial plexopathy
Author(s) -
Mathys Jan,
Vajtai Istvan,
Vögelin Esther,
Zimmermann Dieter R.,
Ozdoba Christoph,
Hewer Ekkehard
Publication year - 2014
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24165
Subject(s) - desmoplastic small round cell tumor , pathology , medicine , malignant peripheral nerve sheath tumor , clear cell sarcoma , sarcoma , magnetic resonance imaging , anatomy , radiology , immunohistochemistry
: 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 Nerve 49 : 922–927, 2014