Article
Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.
Brain pathology (Zurich, Switzerland) - 1 Oct 2008
Patil Sushama, Perry Arie, Maccollin Mia, Dong Shumin, Betensky Rebecca A, Yeh Tu-Hsueh, Gutmann David H, Stemmer-Rachamimov Anat O
Abstract excerpt
The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. Tumors were found to have both constitutional and somatic mutations of the SMARCB1 gene and showed a mosaic pattern of loss of INI1 expression by immunohistochemistry, suggesting a tumor composition of mixed...
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