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

Jodi M. Carter, Carolyn O'Hara, George Dundas, Dawna Gilchrist, Mark S. Collins, Katherine Eaton, Alexander R. Judkins, Jaclyn A. Biegel, Andrew L. Folpe

Research output: Contribution to journalArticle

65 Scopus citations

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 languageEnglish (US)
Pages (from-to)154-160
Number of pages7
JournalAmerican Journal of Surgical Pathology
Volume36
Issue number1
DOIs
StatePublished - Jan 2012

Keywords

  • SMARCB1/INI1
  • malignant peripheral nerve sheath tumor
  • schwannoma
  • schwannomatosis

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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