Brat DJ, Ellison DW, Figarella-Branger D et al (2021) WHO Classification of tumors Series, International Agency for Research on Cancer, Lyon, vol 6, 5th edn., https://tumourclassification.iarc.who.int/chapters/45. Accessed 8 Jan 2021.
Xia L, Wu B, Fu Z et al (2015) Prognostic role of IDH mutations in gliomas: a meta-analysis of observational studies. Oncotarget 6:17354–17365. https://doi.org/10.18632/oncotarget.4008
Weller M, van den Bent M, Tonn JC et al (2017) European Association for Neuro-Oncology (EANO) guideline on the diagnosis and treatment of adult astrocytic and oligodendroglial gliomas. Lancet Oncol Elsevier 18:e315–e329. https://doi.org/10.1016/S1470-2045(17)30194-8
Arita H, Narita Y, Matsushita Y et al (2015) Development of a robust and sensitive pyrosequencing assay for the detection of IDH1/2 mutations in gliomas. Brain Tumor Pathol 32:22–30. https://doi.org/10.1007/s10014-014-0186-0
CAS Article PubMed Google Scholar
Cheng J, Haas M (1992) Sensitivity of detection of heterozygous point mutations in p53 cDNAs by direct PCR sequencing. PCR Methods Appl 1:199–201. https://doi.org/10.1101/gr.1.3.199
CAS Article PubMed Google Scholar
Monzon FA, Ogino S, Hammond MEH et al (2009) The role of KRAS mutation testing in the management of patients with metastatic colorectal cancer. Arch Pathol Lab Med 133:1600–1606. https://doi.org/10.5858/133.10.1600
CAS Article PubMed Google Scholar
Ihle MA, Fassunke J, König K et al (2014) Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations. BMC Cancer 14:13. https://doi.org/10.1186/1471-2407-14-13
Preusser M, Wöhrer 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. https://doi.org/10.1097/NEN.0b013e31822713f0
CAS Article PubMed Google Scholar
Balss J, Meyer J, Mueller W et al (2008) Analysis of the IDH1 codon 132 mutation in brain tumors. Acta Neuropathol 116:597–602. https://doi.org/10.1007/s00401-008-0455-2
CAS Article PubMed Google Scholar
Watanabe T, Nobusawa S, Kleihues P, Ohgaki H (2009) IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas. Am J Pathol 174:1149–1153. https://doi.org/10.2353/ajpath.2009.080958
CAS Article PubMed PubMed Central Google Scholar
Yan H, Parsons DW, Jin G et al (2009) IDH1 and IDH2 mutations in gliomas. N Engl J Med 360:765–773. https://doi.org/10.1056/NEJMoa0808710
CAS Article PubMed PubMed Central Google Scholar
Ichimura K, Pearson DM, Kocialkowski S et al (2009) IDH1 mutations are present in the majority of common adult gliomas but rare in primary glioblastomas. Neuro Oncol 11:341–347. https://doi.org/10.1215/15228517-2009-025
CAS Article PubMed PubMed Central Google Scholar
Preusser M, Capper D, Hartmann C, Euro-CNS Research Committee (2011) IDH testing in diagnostic neuropathology: review and practical guideline article invited by the Euro-CNS research committee. Clin Neuropathol 30:217–230. https://doi.org/10.5414/np300422
Zou Y, Bai HX, Wang Z, Yang L (2015) Comparison of immunohistochemistry and DNA sequencing for the detection of IDH1 mutations in gliomas. Neuro Oncol 17:477–478. https://doi.org/10.1093/neuonc/nou351
Article PubMed PubMed Central Google Scholar
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. https://doi.org/10.1111/j.1750-3639.2009.00352.x
CAS Article PubMed Google Scholar
Jabbar KJ, Luthra R, Patel KP et al (2015) Comparison of next-generation sequencing mutation profiling with BRAF and IDH1 mutation-specific immunohistochemistry. Am J Surg Pathol 39:454–461. https://doi.org/10.1097/PAS.0000000000000325
Luchman HA, Chesnelong C, Cairncross JG, et al. (2013) Spontaneous loss of heterozygosity leading to homozygous R132H in a patient-derived IDH1 mutant cell line. Neuro Oncol 15:979–980. https://doi.org/10.1093/neuonc/not064
Louis D, Ohgaki H, Wiestler O et al (2016) World Health Organization classification of tumours of the central nervous system, revised, 4th edn. IARC Press, Lyon, France
Armbruster DA, Pry T (2008) Limit of blank, limit of detection and limit of quantitation. Clin Biochem Rev 29:S49-52
PubMed PubMed Central Google Scholar
Hirano M, Ohka F, Maeda S et al (2018) A novel high-sensitivity assay to detect a small fraction of mutant IDH1 using droplet digital PCR. Brain Tumor Pathol 35:97–105. https://doi.org/10.1007/s10014-018-0310-7
CAS Article PubMed Google Scholar
Dong L, Wang S, Fu B, Wang J (2018) Evaluation of droplet digital PCR and next generation sequencing for characterizing DNA reference material for KRAS mutation detection. Sci Rep 8:9650. https://doi.org/10.1038/s41598-018-27368-3
CAS Article PubMed PubMed Central Google Scholar
Fujioka Y, Hata N, Akagi Y et al (2021) Molecular diagnosis of diffuse glioma using a chip-based digital PCR system to analyze IDH, tert, and H3 mutations in the cerebrospinal fluid. J Neurooncol 152:47–54. https://doi.org/10.1007/s11060-020-03682-7
CAS Article PubMed PubMed Central Google Scholar
Yamagishi Y, Sasaki N, Nakano Y et al (2021) Liquid biopsy of cerebrospinal fluid for MYD88 L265P mutation is useful for diagnosis of central nervous system lymphoma. Cancer Sci 112:4702–4710. https://doi.org/10.1111/cas.15133
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