Desmoplastic small round cell tumor: a rare cause of a progressive brachial plexopathy.
Details
Serval ID
serval:BIB_41816A8615DF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Desmoplastic small round cell tumor: a rare cause of a progressive brachial plexopathy.
Journal
Muscle & nerve
ISSN
1097-4598 (Electronic)
ISSN-L
0148-639X
Publication state
Published
Issued date
06/2014
Peer-reviewed
Oui
Volume
49
Number
6
Pages
922-927
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
The clinical course, imaging, electrophysiological, intraoperative, histopathological, molecular findings, and postoperative follow-up are reported.
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.
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.
The clinical course, imaging, electrophysiological, intraoperative, histopathological, molecular findings, and postoperative follow-up are reported.
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.
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.
Keywords
Adult, Brachial Plexus Neuropathies/diagnosis, Brachial Plexus Neuropathies/etiology, Combined Modality Therapy, Desmoplastic Small Round Cell Tumor/complications, Desmoplastic Small Round Cell Tumor/diagnosis, Desmoplastic Small Round Cell Tumor/therapy, Humans, Magnetic Resonance Imaging, Male, Peripheral Nervous System Neoplasms/complications, Peripheral Nervous System Neoplasms/diagnosis, Peripheral Nervous System Neoplasms/therapy, Positron-Emission Tomography, Treatment Outcome, EWSR1/WT1 fusion nerve biopsy, brachial plexopathy, desmoplastic small round cell tumor, positron emission tomography
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Create date
31/08/2020 13:02
Last modification date
10/11/2020 7:26
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