Abstract
Epithelioid malignant peripheral nerve sheath tumors arising in preexisting schwannomas are extremely rare. We report an unusual example occurring in a patient with multiple schwannomas (schwannomatosis), all but 1 of which showed "neuroblastoma-like" histology. By immunohistochemistry, both the epithelioid malignant peripheral nerve sheath tumor and the schwannomas showed a complete loss of the Smarcb1 protein. Subsequent genetic evaluation revealed the presence of a novel germline mutation in the SMARCB1/INI1 gene in the patient and in 3 of her children, 2 of whom were diagnosed with atypical teratoid/rhabdoid tumors of the brain.
Original language | English (US) |
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Pages (from-to) | 154-160 |
Number of pages | 7 |
Journal | American Journal of Surgical Pathology |
Volume | 36 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2012 |
Keywords
- SMARCB1/INI1
- malignant peripheral nerve sheath tumor
- schwannoma
- schwannomatosis
ASJC Scopus subject areas
- Anatomy
- Surgery
- Pathology and Forensic Medicine