Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases

Neurosurgery
Eriks A LusisArie Perry

Abstract

Turcot syndrome (TS) is a rare genetic disorder of DNA mismatch repair predisposing to glioblastoma (GBM) in the type 1 variant. We report the clinicopathological and genetic features of 3 gliomas in TS type 1 patients. Three cases were reviewed from our clinical and pathology files at Washington University with the diagnosis of TS 1 and GBM over the past 14 years. All 3 had classic features of GBM, but also demonstrated bizarre multinucleated giant cells and remarkably high mitotic indices. Sarcomatous regions were found in 2. Despite these features, the patients had prolonged survival times of 44, 55, and >29 months (ie, currently alive). Demographic and clinical courses were abstracted from retrospective chart review. Histopathology was reviewed from all cases and reticulin histochemistry was added to identify possible foci of sarcomatous differentiation. All 3 had classic features of GBM, and Ki-67 labeling indices ranged from 18 to 45%. All 3 also showed strong nuclear p53 positivity. Two cases were negative for the isocitrate dehydrogenase 1 (IDH1) mutation, and O-Methylguanine methyltransferase promoter methylation was seen in one. Fluorescence in situ hybridization was done using 1p/1q, 19p/19q, centromere 7/epithelial ...Continue Reading

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Oct 1, 2011·Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract·Hyuk Jun ChungWon-Kyung Kang
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