IDH Mutation Analysis in Glioma Patients by CADMA Compared with SNaPshot Assay and two Immunohistochemical Methods

Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW (2008) An integrated genomic analysis of human glioblastoma multiforme. Science 321:1807–1812 Hempel JM, Bidsas S, Schittenhelm J, Brendle C, Bender B, Wassmann H, Skardelly M, Tabatabai G, Vega SC, Ernemann U, Klose U (2016) In vivo molecular profiling of human glioma using diffusion kurtosis imaging. J Neuro-Oncol 131:93–101 Nesvick CL, Zhang C, Edwards NA, Montgomery BK, Lee M, Yang C, Wang H, Zhu D, Heiss JD, Merrill MJ, Ray-Chaudhury A, Zhuang Z (2016) ZEB1 expression is increased in IDH1-mutant lower-grade gliomas. J Neuro-Oncol 130:111–122 Yang Y, Mao Q, Wang X, Liu Y, Mao Y, Zhou Q, Luo J (2016) An analysis of 170 glioma patients and systematic review to investigate the association between IDH-1 mutations and preoperative glioma-related epilepsy. J Clin Neurosci 31:56–62 Rodriguez FJ, Vizcaino MA, Lin MT (2016) Recent advances on the molecular pathology of glial neoplasms in children and adults. J Mol Diagn 18:620–634 Turkalp Z, Karamchandani J, Das S (2014) IDH mutation in glioma: new insights and promises for the future. JAMA Neurol 71:1319–1325 Kingsbury JM, Shamaprasad N, Billmyre RB, Heitman J, Cardenas ME (2016) Cancer-associated isocitrate dehydrogenase mutations induce mitochondrial DNA instability. Hum Mol Genet 25:3524–3538 Masui K, Cavenee WK, Mischel PS (2016) Cancer metabolism as a central driving force of glioma pathogenesis. Brain Tumor Pathol 33:161–168 Cairns RA, Mak TW (2013) Oncogenic isocitrate dehydrogenase mutations: mechanisms, models, and clinical opportunities. Cancer Discov 3:730–741 Lu C, Ward PS, Kapoor GS, Rohle D, Turcan S, Abdel-Wahab O, Edwards CR, Khanin R, Figueroa ME, Melnick A, Wellen KE, O'Rourke DM, Berger SL, Chan TA, Levine RL, Mellinghoff IK, Thompson CB (2012) IDH mutation impairs histone demethylation and results in a block to cell differentiation. Nature 483:474–478 Johannessen TA, Mukherjee J, Viswanath P, Ohba S, Ronen SM, Bjerkvig R, Pieper RO (2016) Rapid conversion of mutant IDH1 from driver to passenger in a model of human gliomagenesis. Mol Cancer Res 14:976–983 Capper D, Weissert S, Balss J, Habel A, Meyer J, Jager D, Ackermann U, Tessmer C, Korshunov A, Zentgraf H, Hartmann C, von Deimling A (2010) Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. Brain Pathol 20:245–254 Balss J, Meyer J, Mueller W, Korshunov A, Hartmann C, von Deimling A (2008) Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 116:597–602 Felsberg J, Wolter M, Seul H, Friedensdorf B, Goppert M, Sabel MC, Reifenberger G (2010) Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. Acta Neuropathol 119:501–507 Setty P, Hammes J, Rothamel T, Vladimirova V, Kramm CM, Pietsch T, Waha A (2010) A pyrosequencing-based assay for the rapid detection of IDH1 mutations in clinical samples. J Mol Diagn 12:750–756 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 12:487–492 Aibaidula A, Zhao W, Wu JS, Chen H, Shi ZF, Zheng LL, Mao Y, Zhou LF, Sui GD (2016) Microfluidics for rapid detection of isocitrate dehydrogenase 1 mutation for intraoperative application. J Neurosurg 124:1611–1618 Meyer J, Pusch S, Balss J, Capper D, Mueller W, Christians A, Hartmann C, von Deimling A (2010) PCR- and restriction endonuclease-based detection of IDH1 mutations. Brain Pathol 20:298–300 Perizzolo M, Winkfein B, Hui S, Krulicki W, Chan JA, Demetrick DJ (2012) IDH mutation detection in formalin-fixed paraffin-embedded gliomas using multiplex PCR and single-base extension. Brain Pathol 22:619–624 Boisselier B, Marie Y, Labussiere M, Ciccarino P, Desestret V, Wang X, Capelle L, Delattre JY, Sanson M (2010) COLD PCR HRM: a highly sensitive detection method for IDH1 mutations. Hum Mut 31:1360–1365 Zacher A, Kaulich K, Stepanow S, Wolter M, Kohrer K, Felsberg J, Malzkorn B, Reifenberger G (2016) Molecular diagnostics of gliomas using next generation sequencing of a glioma-tailored gene panel. Brain Pathol 27:146–159 Polivka J, Polivka J Jr, Rohan V, Pesta M, Repik T, Pitule P, Topolcan O (2014) Isocitrate dehydrogenase-1 mutations as prognostic biomarker in glioblastoma multiforme patients in West Bohemia. Biomed Res Int 2014:735659 van den Bent MJ, Hartmann C, Preusser M, Strobel T, Dubbink HJ, Kros JM, von Deimling A, Boisselier B, Sanson M, Halling KC, Diefes KL, Aldape K, Giannini C (2013) Interlaboratory comparison of IDH mutation detection. J Neuro-Oncol 112:173–178 Louis DN, Ohgaki H, Wiestler OD, Cavenee WK, Burger PC, Jouvet A, Scheithauer BW, Kleihues P (2007) The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 114:97–109 Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW (2016) The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol 131:803–820 Houdova Megova M, Drabek J, Dwight Z, Trojanec R, Koudelakova V, Vrbkova J, Kalita O, Mlcochova S, Rabcanova M, Hajduch M (2017) Isocitrate dehydrogenase mutations are better prognostic marker than O6-methylguanine-DNA methyltransferase promoter methylation in glioblastomas - a retrospective, single-Centre molecular genetics study of gliomas. Klinicka onkologie 30:361–371 Agarwal S, Sharma MC, Jha P, Pathak P, Suri V, Sarkar C, Chosdol K, Suri A, Kale SS, Mahapatra AK, Jha P (2013) Comparative study of IDH1 mutations in gliomas by immunohistochemistry and DNA sequencing. Neuro-Oncology 15:718–726 Ramos-Vara JA, Miller MA (2014) When tissue antigens and antibodies get along: revisiting the technical aspects of immunohistochemistry--the red, brown, and blue technique. Vet Pathol 51:42–87 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 70:715–723 Loussouarn D, Le Loupp AG, Frenel JS, Leclair F, von Deimling A, Aumont M, Martin S, Campone M, Denis MG (2012) Comparison of immunohistochemistry, DNA sequencing and allele-specific PCR for the detection of IDH1 mutations in gliomas. Int J Oncol 40:2058–2062 Gilbert MT, Haselkorn T, Bunce M, Sanchez JJ, Lucas SB, Jewell LD, Van Marck E, Worobey M (2007) The isolation of nucleic acids from fixed, paraffin-embedded tissues-which methods are useful when? P ONE 2:e537 Huijsmans CJ, Damen J, van der Linden JC, Savelkoul PH, Hermans MH (2010) Comparative analysis of four methods to extract DNA from paraffin-embedded tissues: effect on downstream molecular applications. BMC Res Notes 3:239 Takano S, Tian W, Matsuda M, Yamamoto T, Ishikawa E, Kaneko MK, Yamazaki K, Kato Y, Matsumura A (2011) Detection of IDH1 mutation in human gliomas: comparison of immunohistochemistry and sequencing. Brain Tumor Pathol 28:115–123 Kaneko MK, Tsujimoto Y, Hozumi Y, Goto K, Kato Y (2013) Novel monoclonal antibodies GMab-r1 and LMab-1 specifically recognize IDH1-R132G and IDH1-R132L mutations. Monoclon Antib Immunodiagn Immunother 32:224–228