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Am J Surg Pathol. 2012 Jan;36(1):154-60. doi: 10.1097/PAS.0b013e3182380802.

Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation.

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  • 1Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada.

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.

PMID:
22082606
[PubMed - indexed for MEDLINE]
PMCID:
PMC3241826
Free PMC Article
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