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Neuropathology |
Department of Neurology, New York University School of Medicine, New York, NY 10016 (J.C.A.); Departments of Pathology (A.R.J., J.A.B.) and Pediatrics (J.A.B.), The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, PA 19104; Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY, 10021(M.K.R.); USA
2 Address correspondence to Jaclyn Biegel, Room 1002, Abramson Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA (biegel{at}mail.med.upenn.edu).
We report an atypical teratoid/rhabdoid tumor arising in a ganglioglioma from an 11-year-old male who had been treated over a nine-year period. A combined histologic, immunohistochemical, and molecular genetic analysis confirmed this diagnosis. Molecular genetic studies demonstrated a mutation in exon 9 of the INI1 gene in the tumor, which was not present in the patient's blood. This report is the first to describe progression of a ganglioglioma to atypical teratoid/rhabdoid tumor.
Key Words: atypical teratoid tumor ganglioglioma hSNF5/INI1 rhabdoid tumor
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