Desmoplastic small round cell tumor: a rare cause of a progressive brachial plexopathy.

Détails

ID Serval
serval:BIB_41816A8615DF
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Desmoplastic small round cell tumor: a rare cause of a progressive brachial plexopathy.
Périodique
Muscle & nerve
Auteur⸱e⸱s
Mathys J., Vajtai I., Vögelin E., Zimmermann D.R., Ozdoba C., Hewer E.
ISSN
1097-4598 (Electronic)
ISSN-L
0148-639X
Statut éditorial
Publié
Date de publication
06/2014
Peer-reviewed
Oui
Volume
49
Numéro
6
Pages
922-927
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
31/08/2020 13:02
Dernière modification de la notice
10/11/2020 7:26
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