Article
Analysis of NADP+-dependent isocitrate dehydrogenase-1/2 gene mutations in pediatric brain tumors: report of a secondary anaplastic astrocytoma carrying the IDH1 mutation.
Journal of neuro-oncology - 1 Sept 2012
Mascelli Samantha, Raso Alessandro, Biassoni Roberto, Severino Mariasavina, Sak Katrin, Joost Kairit, Milanaccio Claudia, Barra Salvina, Grillo-Ruggieri Filippo, Vanni Irene, Consales Alessandro, Cama Armando, Capra Valeria, Nozza Paolo, Garrè Maria Luisa
Abstract excerpt
Somatic mutations of the isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (p.R132H), have been reported for WHO grade II and III diffuse gliomas and secondary glioblastomas. We investigated IDH1/2 mutations in a retrospective series of 165 pediatric brain tumors, including atypical teratoid/rhabdoid tumors (AT/RT) and choroid plexus tumors,...
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