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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Authors: | Carter Jodi M O'Hara Carolyn Dundas George Gilchrist Dawna Collins Mark S Eaton Katherine Judkins Alexander R Biegel Jaclyn A Folpe Andrew L |
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Institution: | Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, Canada. |
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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. |
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