Interlaboratory comparison of IDH mutation detection

Journal of Neuro-Oncology

Volumn 112, Issue 2, 2013, Pages 173-178

  Van Den Bent, Martin J ^a   Hartmann, C ^b,c,d   Preusser, Matthias ^e   Ströbel, Thomas ^f   Dubbink, Hendrikus J ^g   Kros, Johan M ^g   Von Deimling, Andreas ^c,d   Boisselier, Blandine ^h   Sanson, Marc ^h   Halling, Kevin C ⁱ   Diefes, Kristin L ^j   Aldape, Kenneth ^j   Giannini, Caterina ⁱ  

^a ERASMUS MC CANCER INSTITUTE   (Netherlands)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

^g ERASMUS MEDICAL CENTER   (Netherlands)

^h INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

ⁱ MAYO CLINIC   (United States)

^j UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

more..

Author keywords

IDH1; Immunohistochemistry; Interlaboratory comparison; Sequencing

Indexed keywords

ISOCITRATE DEHYDROGENASE; ISOCITRATE DEHYDROGENASE 1; MUTANT PROTEIN; DNA; IDH1 PROTEIN, HUMAN; PARAFFIN;

CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GLIOMA; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUTATIONAL ANALYSIS; REVIEW; SEQUENCE ANALYSIS; ARTICLE; BRAIN TUMOR; COMPARATIVE STUDY; ENZYME IMMUNOASSAY; GENETICS; LABORATORY; METABOLISM; MUTATION; POLYMERASE CHAIN REACTION; STANDARD;

BRAIN NEOPLASMS; DNA, NEOPLASM; GLIOMA; HUMANS; IMMUNOENZYME TECHNIQUES; ISOCITRATE DEHYDROGENASE; LABORATORIES; MUTATION; PARAFFIN EMBEDDING; POLYMERASE CHAIN REACTION;

EID: 84877825900     PISSN: 0167594X     EISSN: 15737373     Source Type: Journal    
DOI: 10.1007/s11060-013-1056-z     Document Type: Review

References (14)

1. Balss J, Meyer J, Mueller W et al (2008) Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 116:597-602
2. Watanabe T, Nobusawa S, Kleihues P et al (2009) IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 174:1149-1153
3. Dang L, White DW, Gross S et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744
4. Parsons DW, Jones S, Zhang X et al (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807-1812
5. Turcan S, Rohle D, Goenka A et al (2012) IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. Nature 483:479-483
6. van den Bent MJ, Dubbink HJ, Marie Y et al (2010) IDH1 and IDH2 mutations are prognostic but not predictive for outcome in anaplastic oligodendroglial tumors: a report of the European Organization for Research and Treatment of Cancer Brain Tumor Group. Clin Cancer Res 16:1597-1604
7. Capper D, Zentgraf H, Balss J et al (2009) Monoclonal antibody specific for IDH1 R132H mutation. Acta Neuropathol 118:599-601
8. 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
9. Chou WC, Lei WC, Ko BS et al (2011) The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia 25:246-253
10. Horbinski C, Kelly L, Nikiforov YE et al (2010) Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsies. J Mol Diagn 12:487-492
11. Preusser M, Capper D, Hartmann C (2011) IDH testing in diagnostic neuropathology: review and practical guideline article invited by the Euro-CNS research committee. Clin Neuropathol 30:217-230
12. Ida CM, Lambert SR, Rodriguez FJ, et al.: (2012) BRAF Alterations are Frequent in Cerebellar Low-Grade Astrocytomas with Diffuse Growth Pattern. J Neuropathol Exp Neurol 71(7):631-639
13. Boisselier B, Marie Y, Labussiere M et al (2010) COLD PCR HRM: a highly sensitive detection method for IDH1 mutations. Hum Mutat 31:1360-1365
14. Preusser M, Wohrer A, Stary S et al (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 70:715-723