Louis DN, Perry A, Wesseling P et al (2021) The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol. https://doi.org/10.1093/neuonc/noab106

Article  PubMed  Google Scholar 

Horn S, Figl A, Rachakonda PS et al (2013) TERT promoter mutations in familial and sporadic melanoma. Science 339:959–961. https://doi.org/10.1126/science.1230062

CAS  Article  PubMed  Google Scholar 

Huang FW, Hodis E, Xu MJ et al (2013) Highly recurrent TERT promoter mutations in human melanoma. Science 339:957–959. https://doi.org/10.1126/science.1229259

CAS  Article  PubMed  PubMed Central  Google Scholar 

Koelsche C, Sahm F, Capper D et al (2013) Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system. Acta Neuropathol. https://doi.org/10.1007/s00401-013-1195-5

Article  PubMed  PubMed Central  Google Scholar 

Arita H, Narita Y, Fukushima S 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

CAS  Article  PubMed  Google Scholar 

Killela PJ, Reitman ZJ, Jiao Y 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 USA 110:6021–6026. https://doi.org/10.1073/pnas.1303607110

CAS  Article  PubMed  PubMed Central  Google Scholar 

Remke M, Ramaswamy V, Peacock J et al (2013) TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma. Acta Neuropathol. https://doi.org/10.1007/s00401-013-1198-2

Article  PubMed  PubMed Central  Google Scholar 

Sahm F, Schrimpf D, Olar A et al (2016) TERT promoter mutations and risk of recurrence in meningioma. J Natl Cancer Inst. https://doi.org/10.1093/jnci/djv377

Article  PubMed  Google Scholar 

Arita H, Yamasaki K, Matsushita Y et al (2016) A combination of TERT promoter mutation and MGMT methylation status predicts clinically relevant subgroups of newly diagnosed glioblastomas. Acta Neuropathol Commun 4:79. https://doi.org/10.1186/s40478-016-0351-2

CAS  Article  PubMed  PubMed Central  Google Scholar 

Labussiere M, Di Stefano AL, Gleize V et al (2014) TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations. Br J Cancer 111:2024–2032. https://doi.org/10.1038/bjc.2014.538

CAS  Article  PubMed  PubMed Central  Google Scholar 

Lee J, Putnam AR, Chesier SH et al (2018) Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts. Acta Neuropathol Commun 6:95. https://doi.org/10.1186/s40478-018-0598-x

CAS  Article  PubMed  PubMed Central  Google Scholar 

Nguyen HN, Lie A, Li T et al (2016) Human TERT promoter mutation enables survival advantage from MGMT promoter methylation in IDH1 wild-type primary glioblastoma treated by standard chemoradiotherapy. Neuro Oncol. https://doi.org/10.1093/neuonc/now189

Article  PubMed Central  Google Scholar 

Nonoguchi N, Ohta T, Oh JE et al (2013) TERT promoter mutations in primary and secondary glioblastomas. Acta Neuropathol 126:931–937. https://doi.org/10.1007/s00401-013-1163-0

CAS  Article  PubMed  Google Scholar 

Simon M, Hosen I, Gousias K et al (2015) TERT promoter mutations: a novel independent prognostic factor in primary glioblastomas. Neuro Oncol 17:45–52. https://doi.org/10.1093/neuonc/nou158

CAS  Article  PubMed  Google Scholar 

Spiegl-Kreinecker S, Lotsch D, Ghanim B et al (2015) Prognostic quality of activating TERT promoter mutations in glioblastoma: interaction with the rs2853669 polymorphism and patient age at diagnosis. Neuro Oncol 17:1231–1240. https://doi.org/10.1093/neuonc/nov010

CAS  Article  PubMed  PubMed Central  Google Scholar 

Kikuchi Z, Shibahara I, Yamaki T et al (2020) TERT promoter mutation associated with multifocal phenotype and poor prognosis in patients with IDH wild-type glioblastoma. Neurooncol Adv 2:vdaa114. https://doi.org/10.1093/noajnl/vdaa114

Article  PubMed  PubMed Central  Google Scholar 

Shu C, Wang Q, Yan X et al (2018) The TERT promoter mutation status and MGMT promoter methylation status, combined with dichotomized MRI-derived and clinical features, predict adult primary glioblastoma survival. Cancer Med 7:3704–3712. https://doi.org/10.1002/cam4.1666

CAS  Article  PubMed  PubMed Central  Google Scholar 

Bell RJ, Rube HT, Kreig A et al (2015) Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer. Science 348:1036–1039. https://doi.org/10.1126/science.aab0015

CAS  Article  PubMed  PubMed Central  Google Scholar 

Pierini T, Nardelli C, Lema Fernandez AG et al (2020) New somatic TERT promoter variants enhance the telomerase activity in glioblastoma. Acta Neuropathol Commun 8:145. https://doi.org/10.1186/s40478-020-01022-4

CAS  Article  PubMed  PubMed Central  Google Scholar 

Barthel FP, Wei W, Tang M et al (2017) Systematic analysis of telomere length and somatic alterations in 31 cancer types. Nat Genet 49:349–357. https://doi.org/10.1038/ng.3781

CAS  Article  PubMed  PubMed Central  Google Scholar 

Castelo-Branco P, Choufani S, Mack S et al (2013) Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol 14:534–542. https://doi.org/10.1016/S1470-2045(13)70110-4

CAS  Article  PubMed  Google Scholar 

Lee DD, Leao R, Komosa M et al (2019) DNA hypermethylation within TERT promoter upregulates TERT expression in cancer. J Clin Invest 129:223–229. https://doi.org/10.1172/JCI121303

Article  PubMed  Google Scholar 

Adachi JI, Shirahata M, Suzuki T et al (2021) Droplet digital PCR assay for detecting TERT promoter mutations in patients with glioma. Brain Tumor Pathol 38:201–209. https://doi.org/10.1007/s10014-021-00403-4

CAS  Article  PubMed  Google Scholar 

Ichimura K (2019) TERT promoter mutation as a diagnostic marker for diffuse gliomas. Neuro Oncol 21:417–418. https://doi.org/10.1093/neuonc/noz025

CAS  Article  PubMed  PubMed Central  Google Scholar 

Brennan CW, Verhaak RG, McKenna A et al (2013) The somatic genomic landscape of glioblastoma. Cell 155:462–477. https://doi.org/10.1016/j.cell.2013.09.034

CAS  Article  PubMed  PubMed Central  Google Scholar 

Suzuki H, Aoki K, Chiba K et al (2015) Mutational landscape and clonal architecture in grade II and III gliomas. Nat Genet 47:458–468. https://doi.org/10.1038/ng.3273

CAS  Article  PubMed  Google Scholar 

Higa N, Akahane T, Yokoyama S et al (2020) A tailored next-generation sequencing panel identified distinct subtypes of wildtype IDH and TERT promoter glioblastomas. Cancer Sci 111:3902–3911. https://doi.org/10.1111/cas.14597

CAS  Article  PubMed  PubMed Central  Google Scholar 

Miki S, Satomi K, Ohno M et al (2020) Highly sensitive detection of TERT promoter mutations in recurrent glioblastomas using digital PCR. Brain Tumor Pathol 37:154–158. https://doi.org/10.1007/s10014-020-00375-x

CAS  Article  PubMed  Google Scholar 

Fontanilles M, Marguet F, Beaussire L et al (2020) Cell-free DNA and circulating TERT promoter mutation for disease monitoring in newly-diagnosed glioblastoma. Acta Neuropathol Commun 8:179. https://doi.org/10.1186/s40478-020-01057-7

CAS  Article  PubMed  PubMed Central  Google Scholar 

Diplas BH, Liu H, Yang R et al (2019) Sensitive and rapid detection of TERT promoter and IDH mutations in diffuse gliomas. Neuro Oncol 21:440–450. https://doi.org/10.1093/neuonc/noy167

CAS  Article  PubMed  Google Scholar 

Arita H, Matsushita Y, Machida R et al (2020) TERT promoter mutation confers favorable prognosis regardless of 1p/19q status in adult diffuse gliomas with IDH1/2 mutations. Acta Neuropathol Commun 8:201. https://doi.org/10.1186/s40478-020-01078-2

CAS  Article  PubMed  PubMed Central  Google Scholar 

Tesileanu CMS, Dirven L, Wijnenga MMJ et al (2020) Survival of diffuse astrocytic glioma, IDH1/2 wildtype, with molecular features of glioblastoma, WHO grade IV: a confirmation of the cIMPACT-NOW criteria. Neuro Oncol 22:515–523. https://doi.org/10.1093/neuonc/noz200

CAS  Article  PubMed  Google Scholar 

Stichel D, Ebrahimi A, Reuss D et al (2018) Distribution of EGFR amplification, combined chromosome 7 gain and chromosome 10 loss, and TERT promoter mutation in brain tumors and their potential for the reclassification of IDHwt astrocytoma to glioblastoma. Acta Neuropathol 136:793–803. https://doi.org/10.1007/s00401-018-1905-0

Article  PubMed  Google Scholar 

Fujimoto K, Arita H, Satomi 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

CAS  Article  PubMed  Google Scholar 

Gomes I, Moreno DA, Dos Reis MB et al (2021) Low MGMT digital expression is associated with a better outcome of IDH1 wildtype glioblastomas treated with temozolomide. J Neurooncol 151:135–144. https://doi.org/10.1007/s11060-020-03675-6

CAS  Article  PubMed  Google Scholar 

Labussiere M, Boisselier B, Mokhtari K et al (2014) Combined analysis of TERT, EGFR, and IDH status defines distinct prognostic glioblastoma classes. Neurology 83:1200–1206. https://doi.org/10.1212/WNL.0000000000000814

CAS  Article