Article
A new sensitive PCR assay for one-step detection of 12 IDH1/2 mutations in glioma.
Acta neuropathologica communications - 2 Jun 2014
Catteau Aurélie, Girardi Hélène, Monville Florence, Poggionovo Cécile, Carpentier Sabrina, Frayssinet Véronique, Voss Jesse, Jenkins Robert, Boisselier Blandine, Mokhtari Karima, Sanson Marc, Peyro-Saint-Paul Hélène, Giannini Caterina
Abstract excerpt
INTRODUCTION: Mutations in isocitrate dehydrogenase genes IDH1 or IDH2 are frequent in glioma, and IDH mutation status is a strong diagnostic and prognostic marker. Current IDH mutation screening is performed with an immunohistochemistry (IHC) assay specific for IDH1 R132H, the most common mutation. Sequencing is recommended as a second-step test for IHC-negative or -equivocal cases. We developed and validated a...
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