Top

Published in:

01-09-2012 | Correspondence

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

Authors: Benjamin Ellezam, Brett J. Theeler, Tobias Walbert, Aaron G. Mammoser, Craig Horbinski, Bette K. Kleinschmidt-DeMasters, Arie Perry, Vinay Puduvalli, Gregory N. Fuller, Janet M. Bruner, Kenneth D. Aldape

Published in: Acta Neuropathologica | Issue 3/2012

Excerpt

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. …

Camelo-Piragua S, Jansen M, Ganguly A, Kim JC, Cosper AK, Dias-Santagata D, Nutt CL, Iafrate AJ, Louis DN (2011) A sensitive and specific diagnostic panel to distinguish diffuse astrocytoma from astrocytosis: chromosome 7 gain with mutant isocitrate dehydrogenase 1 and p53. J Neuropathol Exp Neurol 70:110–115PubMedCrossRef

Capper D, Reuss D, Schittenhelm J, Hartmann C, Bremer J, Sahm F, Harter PN, Jeibmann A, von Deimling A (2011) Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. Acta Neuropathol 121:241–252PubMedCrossRef

Capper D, Sahm F, Hartmann C, Meyermann R, von Deimling A, Schittenhelm J (2010) Application of mutant IDH1 antibody to differentiate diffuse glioma from nonneoplastic central nervous system lesions and therapy-induced changes. Am J Surg Pathol 34:1199–1204PubMedCrossRef

Capper D, Weissert S, Balss J et al (2010) Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. Brain Pathol 20:245–254. doi:10.1111/j.1750-3639.2009.00352.x PubMedCrossRef

Capper D, Zentgraf H, Balss J, Hartmann C, Deimling A (2009) Monoclonal antibody specific for IDH1 R132H mutation. Acta Neuropathol 118:599–601. doi:10.1007/s00401-009-0595-z PubMedCrossRef

CBTRUS (2012) CBTRUS Statistical Report: primary brain and central nervous system tumors diagnosed in the United States in 2004–2008. Source: Central Brain Tumor Registry of the United States, Hinsdale, IL. Website: www.CBTRUS.org

Horbinski C, Kelly L, Nikiforov YE, Durso MB, Nikiforova MN (2010) Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsies. J Mol Diagn 12:487–492PubMedCrossRef

Horbinski C, Kofler J, Kelly LM, Murdoch GH, Nikiforova MN (2009) Diagnostic use of IDH1/2 mutation analysis in routine clinical testing of formalin-fixed, paraffin-embedded glioma tissues. J Neuropathol Exp Neurol 68:1319–1325PubMedCrossRef

Horbinski C, Kofler J, Yeaney G, Camelo-Piragua S, Venneti S, Louis DN, Perry A, Murdoch G, Nikiforova M (2011) Isocitrate dehydrogenase 1 analysis differentiates gangliogliomas from infiltrative gliomas. Brain Pathol 21:564–574PubMedCrossRef

10.

Kloosterhof NK, Bralten LBC, Dubbink HJ, French PJ, van den Bent MJ (2011) Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma? Lancet Oncol 12:83–91. doi:10.1016/s1470-2045(10)70053-x PubMedCrossRef

11.

Korshunov A, Meyer J, Capper D, Christians A, Remke M, Witt H, Pfister S, von Deimling A, Hartmann C (2009) Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma. Acta Neuropathol 118:401–405PubMedCrossRef

12.

Labussiere M, Idbaih A, Wang XW et al (2010) All the 1p19q codeleted gliomas are mutated on IDH1 or IDH2. Neurology 74:1886–1890PubMedCrossRef

13.

Preusser M, Wohrer A, Stary S, Hoftberger R, Streubel B, Hainfellner JA (2011) Value and limitations of immunohistochemistry and gene sequencing for detection of the IDH1-R132H mutation in diffuse glioma biopsy specimens. J Neuropathol Exp Neurol 70:715–723PubMedCrossRef

14.

Rineer J, Schreiber D, Choi K, Rotman M (2010) Characterization and outcomes of infratentorial malignant glioma: a population-based study using the Surveillance Epidemiology and End-Results database. Radiother Oncol 95:321–326. doi:10.1016/j.radonc.2010.04.007 PubMedCrossRef

Title: Low rate of R132H IDH1 mutation in infratentorial and spinal cord grade II and III diffuse gliomas
Authors: Benjamin Ellezam
Brett J. Theeler
Tobias Walbert
Aaron G. Mammoser
Craig Horbinski
Bette K. Kleinschmidt-DeMasters
Arie Perry
Vinay Puduvalli
Gregory N. Fuller
Janet M. Bruner
Kenneth D. Aldape
Publication date: 01-09-2012
Publisher: Springer-Verlag
Published in: Acta Neuropathologica / Issue 3/2012
Print ISSN: 0001-6322
Electronic ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-012-1011-7

At a glance: The STEP trials

Springer Medicine

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

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 3/2012

Targeting intracerebral inflammation in multiple sclerosis: is it feasible?

The genetics and neuropathology of frontotemporal lobar degeneration

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

Fingolimod attenuates ceramide-induced blood–brain barrier dysfunction in multiple sclerosis by targeting reactive astrocytes

Reduced astrocytic NF-κB activation by laquinimod protects from cuprizone-induced demyelination

The genetics and neuropathology of amyotrophic lateral sclerosis