, Volume 124, Issue 3, pp 449-451

Low rate of R132H IDH1 mutation in infratentorial and spinal cord grade II and III diffuse gliomas

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Diffuse gliomas not only are more frequent in the cerebral hemispheres but also occur in the brainstem, cerebellum, and spinal cord. In adult populations, 5 % or less localize to the infratentorium [6, 14]. Primary tumors of the spinal cord are uncommon and only 2.5 % are diffuse gliomas [6]. In the brainstem, many gliomas are diagnosed solely by radiology and even when a biopsy is obtained it tends to be of minute size, rendering interpretations challenging. Accurate diagnostic ancillary studies on such specimens would therefore be valuable.

Analysis of R132H mutant isocitrate dehydrogenase 1 (mIDH1), either by molecular methods or by immunohistochemistry (mIDH1-IHC) [4, 5, 13], has been shown to reliably distinguish diffuse astrocytomas from some of their most frequent mimickers, including pilocytic astrocytomas, gangliogliomas, or reactive gliosis [1, 3, 8, 9, 11], or likewise to distinguish oligodendroglioma from other brain tumors with clear cell morphology like neurocytomas or dys