Alentorn A, Marie Y, Carpentier C, Boisselier B, Giry M, Labussiere M, Mokhtari K, Hoang-Xuan K, Sanson M, Delattre JY et al (2012) Prevalence, clinico-pathological value, and co-occurrence of PDGFRA abnormalities in diffuse gliomas. Neuro Oncol 14:1393–1403. https://doi.org/10.1093/neuonc/nos217
Article CAS PubMed PubMed Central Google Scholar
Amankulor NM, Kim Y, Arora S, Kargl J, Szulzewsky F, Hanke M, Margineantu DH, Rao A, Bolouri H, Delrow J et al (2017) Mutant IDH1 regulates the tumor-associated immune system in gliomas. Genes Dev 31:774–786. https://doi.org/10.1101/gad.294991.116
Article CAS PubMed PubMed Central Google Scholar
Aoki K, Nakamura H, Suzuki H, Matsuo K, Kataoka K, Shimamura T, Motomura K, Ohka F, Shiina S, Yamamoto T et al (2018) Prognostic relevance of genetic alterations in diffuse lower-grade gliomas. Neuro Oncol 20:66–77. https://doi.org/10.1093/neuonc/nox132
Article CAS PubMed Google Scholar
Arita H, Narita Y, Fukushima S, Tateishi K, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Collins VP, Kawahara N et al (2013) Upregulating mutations in the TERT promoter commonly occur in adult malignant gliomas and are strongly associated with total 1p19q loss. Acta Neuropathol 126:267–276. https://doi.org/10.1007/s00401-013-1141-6
Article CAS PubMed Google Scholar
Bai H, Harmanci AS, Erson-Omay EZ, Li J, Coskun S, Simon M, Krischek B, Ozduman K, Omay SB, Sorensen EA et al (2016) Integrated genomic characterization of IDH1-mutant glioma malignant progression. Nat Genet 48:59–66. https://doi.org/10.1038/ng.3457
Article CAS PubMed Google Scholar
Barthel FP, Johnson KC, Varn FS, Moskalik AD, Tanner G, Kocakavuk E, Anderson KJ, Abiola O, Aldape K, Alfaro KD et al (2019) Longitudinal molecular trajectories of diffuse glioma in adults. Nature 576:112–120. https://doi.org/10.1038/s41586-019-1775-1
Article CAS PubMed PubMed Central Google Scholar
Blume-Jensen P, Hunter T (2001) Oncogenic kinase signalling. Nature 411:355–365. https://doi.org/10.1038/35077225
Article CAS PubMed Google Scholar
Brat DJ, Aldape K, Colman H, Figrarella-Branger D, Fuller GN, Giannini C, Holland EC, Jenkins RB, Kleinschmidt-DeMasters B, Komori T et al (2020) cIMPACT-NOW update 5: recommended grading criteria and terminologies for IDH-mutant astrocytomas. Acta Neuropathol 139:603–608. https://doi.org/10.1007/s00401-020-02127-9
Article PubMed PubMed Central Google Scholar
Cancer Genome Atlas Research N, Brat DJ, Verhaak RG, Aldape KD, Yung WK, Salama SR, Cooper LA, Rheinbay E, Miller CR, Vitucci M et al (2015) Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas. N Engl J Med 372:2481–2498. https://doi.org/10.1056/NEJMoa1402121
Cimino PJ, Holland EC (2019) Targeted copy number analysis outperforms histologic grading in predicting patient survival for WHO grades II/III IDH-mutant astrocytomas. Neuro Oncol 21:819–821. https://doi.org/10.1093/neuonc/noz052
Article PubMed PubMed Central Google Scholar
Cimino PJ, Zager M, McFerrin L, Wirsching HG, Bolouri H, Hentschel B, von Deimling A, Jones D, Reifenberger G, Weller M et al (2017) Multidimensional scaling of diffuse gliomas: application to the 2016 World Health Organization classification system with prognostically relevant molecular subtype discovery. Acta Neuropathol Commun 5:39. https://doi.org/10.1186/s40478-017-0443-7
Article CAS PubMed PubMed Central Google Scholar
Dang L, White DW, Gross S, Bennett BD, Bittinger MA, Driggers EM, Fantin VR, Jang HG, Jin S, Keenan MC et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739–744. https://doi.org/10.1038/nature08617
Article CAS PubMed PubMed Central Google Scholar
DiNardo CD, Schuh AC, Stein EM, Montesinos P, Wei AH, de Botton S, Zeidan AM, Fathi AT, Kantarjian HM, Bennett JM et al (2021) Enasidenib plus azacitidine versus azacitidine alone in patients with newly diagnosed, mutant-IDH2 acute myeloid leukaemia (AG221-AML-005): a single-arm, phase 1b and randomised, phase 2 trial. Lancet Oncol 22:1597–1608. https://doi.org/10.1016/S1470-2045(21)00494-0
Article CAS PubMed Google Scholar
Figueroa ME, Abdel-Wahab O, Lu C, Ward PS, Patel J, Shih A, Li Y, Bhagwat N, Vasanthakumar A, Fernandez HF et al (2010) Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18:553–567. https://doi.org/10.1016/j.ccr.2010.11.015
Article CAS PubMed PubMed Central Google Scholar
Fortin Ensign SP, Jenkins RB, Giannini C, Sarkaria JN, Galanis E, Kizilbash SH (2023) Translational significance of CDKN2A/B homozygous deletion in isocitrate dehydrogenase-mutant astrocytoma. Neuro Oncol 25:28–36. https://doi.org/10.1093/neuonc/noac205
Article CAS PubMed Google Scholar
Fujimoto K, Arita H, Satomi K, Yamasaki K, Matsushita Y, Nakamura T, Miyakita Y, Umehara T, Kobayashi K, Tamura K et al (2021) TERT promoter mutation status is necessary and sufficient to diagnose IDH-wildtype diffuse astrocytic glioma with molecular features of glioblastoma. Acta Neuropathol 142:323–338. https://doi.org/10.1007/s00401-021-02337-9
Article CAS PubMed Google Scholar
Hayashi T, Tateishi K, Matsuyama S, Iwashita H, Miyake Y, Oshima A, Homma H, Sasame J, Takabayashi K, Sugino K et al (2023) Intraoperative integrated diagnostic system for malignant central nervous system tumors. Clin Cancer Res. https://doi.org/10.1158/1078-0432.CCR-23-1660
Hickman RA, Gedvilaite E, Ptashkin R, Reiner AS, Cimera R, Nandakumar S, Price A, Vanderbilt C, Fahy T, Young RJ et al (2023) CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas. Acta Neuropathol. https://doi.org/10.1007/s00401-023-02639-0
Article PubMed PubMed Central Google Scholar
Jonsson P, Lin AL, Young RJ, DiStefano NM, Hyman DM, Li BT, Berger MF, Zehir A, Ladanyi M, Solit DB et al (2019) Genomic correlates of disease progression and treatment response in prospectively characterized gliomas. Clin Cancer Res 25:5537–5547. https://doi.org/10.1158/1078-0432.CCR-19-0032
Article CAS PubMed PubMed Central Google Scholar
Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA Jr, Friedman AH, Friedman H, Gallia GL, Giovanella BC et al (2013) TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc Natl Acad Sci U S A 110:6021–6026. https://doi.org/10.1073/pnas.1303607110
Article CAS PubMed PubMed Central Google Scholar
Kocakavuk E, Johnson KC, Sabedot TS, Reinhardt HC, Noushmehr H, Verhaak RGW (2023) Hemizygous CDKN2A deletion confers worse survival outcomes in IDHmut-noncodel gliomas. Neuro Oncol 25:1721–1723. https://doi.org/10.1093/neuonc/noad095
Article PubMed PubMed Central Google Scholar
Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G et al (2021) The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol 23:1231–1251. https://doi.org/10.1093/neuonc/noab106
Article CAS PubMed PubMed Central Google Scholar
Ma P, Fu Y, Cai MC, Yan Y, Jing Y, Zhang S, Chen M, Wu J, Shen Y, Zhu L et al (2017) Simultaneous evolutionary expansion and constraint of genomic heterogeneity in multifocal lung cancer. Nat Commun 8:823. https://doi.org/10.1038/s41467-017-00963-0
Article CAS PubMed PubMed Central Google Scholar
Mellinghoff IK, van den Bent MJ, Blumenthal DT, Touat M, Peters KB, Clarke J, Mendez J, Yust-Katz S, Welsh L, Mason WP et al (2023) Vorasidenib in IDH1- or IDH2-mutant low-grade glioma. N Engl J Med. https://doi.org/10.1056/NEJMoa2304194
Miller JJ, Gonzalez Castro LN, McBrayer S, Weller M, Cloughesy T, Portnow J, Andronesi O, Barnholtz-Sloan JS, Baumert BG, Berger MS et al (2022) Isocitrate dehydrogenase (IDH) mutant gliomas: a Society for Neuro-Oncology (SNO) consensus review on diagnosis, management, and future directions. Neuro Oncol. https://doi.org/10.1093/neuonc/noac207
Article PubMed PubMed Central Google Scholar
Mirchia K, Sathe AA, Walker JM, Fudym Y, Galbraith K, Viapiano MS, Corona RJ, Snuderl M, Xing C, Hatanpaa KJ et al (2019) Total copy number variation as a prognostic factor in adult astrocytoma subtypes. Acta Neuropathol Commun 7:92. https://doi.org/10.1186/s40478-019-0746-y
Article CAS PubMed Google Scholar
Mirchia K, Snuderl M, Galbraith K, Hatanpaa KJ, Walker JM, Richardson TE (2019) Establishing a prognostic threshold for total copy number variation within adult IDH-mutant grade II/III astrocytomas. Acta Neuropathol Commun 7:121. https://doi.org/10.1186/s40478-019-0778-3
Article PubMed PubMed Central Google Scholar
Miyake Y, Fujii K, Nakamaura T, Ikegaya N, Matsushita Y, Gobayashi Y, Iwashita H, Udaka N, Kumagai J, Murata H et al (2021) IDH-mutant astrocytoma with chromosome 19q13 deletion manifesting as an oligodendroglioma-like morphology. J Neuropathol Exp Neurol 80:247–253. https://doi.org/10.1093/jnen/nlaa161
Article CAS PubMed Google Scholar
Noushmehr H, Weisenberger DJ, Diefes K, Phillips HS, Pujara K, Berman BP, Pan F, Pelloski CE, Sulman EP, Bhat KP et al (2010) Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell 17:510–522. https://doi.org/10.1016/j.ccr.2010.03.017
Comments (0)