Pyrosequencing of IDH1 and IDH2 mutations in brain tumors and non-neoplastic conditions

Diagnostic Molecular Pathology

Volumn 21, Issue 4, 2012, Pages 214-220

  Cykowski, Matthew D ^a   Allen, Richard A ^a   Fung, Kar Ming ^a   Harmon, Michael A ^a   Dunn, Samuel T ^a  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

glioma; IDH1; IDH2; isocitrate dehydrogenase; Pyrosequencing

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2;

ARTICLE; ASTROCYTE; ASTROCYTOMA; BRAIN TUMOR; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME 19Q; CHROMOSOME 1P; CHROMOSOME DELETION; CODON; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GLIOMA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MIXED TUMOR; MUTATIONAL ANALYSIS; OLIGODENDROGLIA; OLIGODENDROGLIOMA; PRIORITY JOURNAL; PYROSEQUENCING; REACTION OPTIMIZATION; SEX DIFFERENCE; WILD TYPE;

ADULT; BRAIN NEOPLASMS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GLIOMA; HUMANS; ISOCITRATE DEHYDROGENASE; MALE; MUTATION; NEOPLASM STAGING;

EID: 84870249020     PISSN: 10529551     EISSN: 15334066     Source Type: Journal    
DOI: 10.1097/PDM.0b013e31825d802b     Document Type: Article

References (13)

1. Sanson M, Marie Y, Paris S, et al. Isocitrate dehydrogenase 1 codon 132 mutation is an important prognostic biomarker in gliomas. J Clin Oncol. 2009;27:4150-4154.
2. Parsons DW, Jones S, Zhang X, et al. An integrated genomic analysis of human glioblastoma multiforme. Science. 2008;321:1807-1812.
3. Bourne TD, Schiff D. Update on molecular findings, management and outcome in low-grade gliomas. Nat Rev Neurol. 2010;6:695-701.
4. Yan H, Parsons DW, Jin G, et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med. 2009;360:765-773.
5. Balss J, Meyer J, Mueller W, et al. Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol. 2008;116:597-602.
6. Capper D, Weissert S, Balss J, et al. Characterization of R132H mutation-specific IDH1 antibody binding in brain tumors. Brain Pathol. 2010;20:245-254.
7. Pollack IF, Hamilton RL, Sobol RW, et al. IDH1 mutations are common in malignant gliomas arising in adolescents: a report from the Children's Oncology Group. Childs Nerv Syst. 2011;27: 87-94.
8. Felsberg J, Wolter M, Seul H, et al. Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. Acta Neuropathol. 2010;119:501-507.
9. Camelo-Piragua S, Jansen M, Ganguly A, et al. Mutant IDH1-specific immunohistochemistry distinguishes diffuse astrocytoma from astrocytosis. Acta Neuropathol. 2010;119:509-511.
10. Miller RT, Swanson PE, Wick MR. Fixation and epitope retrieval in diagnostic immunohistochemistry: a concise review with practical considerations. Appl Immunohistochem Mol Morphol. 2000;8: 228-235.
11. Setty P, Hammes J, Rothamel T, et al. A pyrosequencing-based assay for the rapid detection of IDH1 mutations in clinical samples. J Mol Diagn. 2010;12:750-756.
12. Antonelli M, Buttarelli FR, Arcella A, et al. Prognostic significance of histological grading, p53 status, YKL-40 expression, and IDH1 mutations in pediatric high-grade gliomas. J Neurooncol. 2010; 99:209-215.
13. Hartmann C, Meyer J, Balss J, et al. Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas. Acta Neuropathol. 2009;118:469-474.