Louis DN, Ohgaki H, Wiestler OD et al (2016) WHO classification of tumours of the central nervous system, 4th edn. IARC, Lyon
2.Arita H, Narita Y, Fukushima S, Tateishi K, Matsushita Y, Yoshida A, Miyakita Y, Ohno M, Collins VP, Kawahara N, Shibui S, Ichimura K (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
3.Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA, Friedman AH, Friedman H, Gallia GL, Giovanella BC (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
4.Bell RJA, Rube HT, Xavier-Magalhaes A, Costa BM, Mancini A, Song JS, Costello JF (2016) Understanding TERT promoter mutations: a common path to immortality. Mol Cancer Res 14:315–323
5.Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, Kadel S, Moll I, Nagore E, Hemminki K, Schadendorf D, Kumar R (2013) TERT promoter mutations in familial and sporadic melanoma. Science 339:959–961
6.Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA (2013) Highly recurrent TERT promoter mutations in human melanoma. Science 339:957–959
7.Castelo-Branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Martin D, Merino D, Wasserman JD, Elizabeth C, Alon N, Zhang L, Hovestadt V, Kool M, Jones DT, Zadeh G, Croul S, Hawkins C, Hitzler J, Wang JC, Baruchel S, Dirks PB, Malkin D, Pfister S, Taylor MD, Weksberg R, Tabori U (2013) Methylation of the TERT promoter and risk stratifi cation of childhood brain tumours: an integrative genomic and molecular study. Lancet Oncol 14:534–542
8.Huang DS, Wang Z, He XJ, Diplas BH, Yang R, Killela PJ, Meng Q, Ye ZY, Wang W, Jiang XT, Xu L, He XL, Zhao ZS, Xu WJ, Wang HJ, Ma YY, Xia YJ, Li L, Zhang RX, Jin T, Zhao ZK, Xu J, Yu S, Wu F, Liang J, Wang S, Jiao Y, Yan H, Tao HQ (2015) Recurrent TERT promoter mutations identified in a large-scale study of multiple tumor types are associated with increased TERT expression and telomerase activation. Eur J Cancer 51:969–976
9.Eckel-Passow JE, Lachance DH, Molinaro AM, Walsh KM, Decker PA, Sicotte H, Pekmezci M, Rice T, Kosel ML, Smirnov IV, Gobinda S, Caron AA et al (2015) Glioma groups based on 1p/19q, IDH, and TERT promoter mutations in tumors. N Engl J Med 372:2499–2508
10.Brat DJ, Aldape K, Colman H, Holland EC, Louis DN, Jenkins RB, Kleinschmidt-DeMasters B, Perry A, Reifenberger G, Stupp R (2018) cIMPACT-NOW update 3: recommended diagnostic criteria for “diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade IV.” Acta Neuropathol 136:805–810
11.Cong YS, Wen J, Bacchetti S (1999) The human telomerase catalytic subunit hTERT: organization of the gene and characterization of the promoter. Hum Mol Genet 8(1):137–142
12.Kang S, Ohshima K, Shimizu M, Amirhaeri S, Wells RD (1995) Pausing of DNA synthesis in vitro at specific loci in CTG and CGG triplet repeats from human hereditary disease genes. J Biol Chem 270:27014–27021
13.Motz M, Pääbo S, Kilger C (2000) Improved cycle sequencing of GC-rich templates by a combination of nucleotide analogs. Biotechniques 29:268–270
14.Frey UH, Bachmann HS, Peters J, Siffert W (2008) PCR-amplification of GC-rich regions: “slowdown PCR. Nat Protoc 3:1312–1317
15.Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, Murphy KM (2010) Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations: diagnostic and clinical implications. J Mol Diagn 12:425–432
16.Hinson BJ, Ness KD, Masqelier DA, Belgrader P, Heredia NJ, Makarewicz AJ, Bright IJ, Lucero MY, Hiddessen AL, Legler TC, Kitano TK et al (2011) High- throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem 83(22):8604–8610
17.McEvoy AC, Calapre L, Pereira MR, Giardina T, Robinson C, Khattak MA, Meniawy TM, Pritchard AL, Hayward NK, Amanuel B, Millward M, Ziman M, Gray ES (2017) Sensitive droplet digital PCR method for detection of TERT promoter mutations in cell free DNA from patients with metastatic melanoma. Oncotarget 8(45):78890–78900
18.Corless BC, Chang GA, Cooper S, Syeda MM, Shao Y, Osman I, Karlin-Neumann G, Polsky D (2019) Development of novel mutation-specific droplet digital PCR assays detecting TERT promoter mutations in tumor and plasma samples. J Mol Diagn 21(2):274–285
19.Ming-Tseh L, Stacy LM, Michele T, Katie FB, Marija D, Li-Hui T, Guoli C, Srinivasan Y, Hao H, Leslie C, Sarah JW, Christopher DG, James RE (2014) Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am J Clin Pathol 141(6):856–866
20.Hirano M, Ohka F, Maeda S, Chalise L, Yamamichi A, Aoki K, Kato A, Tanahashi K, Motomura K, Nishimura Y, Hara M, Shinjo K, Kondo Y, Wakabayashi T, Natsume A (2018) A novel high-sensitivity assay to detect a small fraction of mutant IDH1 using droplet digital PCR. Brain Tumor Pathol 35:97–105
21.Reid AL, Freeman JB, Millward M, Ziman M, Gray ES (2015) Detection of BRAF-V600E and V600K in melanoma circulating tumour cells by droplet digital PCR. Clin Biochem 48:999–1002
22.Fujioka Y, Hata N, Akagi Y, Kuga D, Hatae R, Sangatsuda Y, Michiwaki Y, Amemiya T, Takigawa K, Funakoshi Y, Sako A, Iwaki T, Lihara K, Mizoguchi M (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
23.Williams C, Ponten F, Moberg C, Soderkvist P, Uhlen M, Ponten J, Sitbon G, Lundeberg J (1999) A high frequency of sequence alterations is due to formalin fixation of archival specimens. Am J Pathol 155:1467–1471
24.Miki S, Satomi K, Ohno M, Matsushita Y, Kitahara M, Miyakita Y, Takahashi M, Matsuda M, Ishikawa E, Matsumura A, Yoshida A, Narita Y, Ichimura K (2020) Highly sensitive detection of TERT promoter mutations in recurrent glioblastomas using digital PCR. Brain Tumor Pathol 37:154–158
25.Diplas BH, Liu H, Yang R, Hansen LJ, Zachem AL, Zhao F, Bigner DD, McLendon RE, Jiao Y, Waitkus HY, Yan H (2018) Sensitive and rapid detection of TERT promoter and IDH mutations in diffuse gliomas. Neuro Oncol 21:440–450
26.Muralidharan K, Yekula A, Small JL, Rosh ZS, Kang KM, Wang L, Lau S, Zhang H, Lee H, Bettegowda C, Chicoine MR, Kalkanis SN et al (2021) TERT promoter mutation analysis for blood-based diagnosis and monitoring of gliomas. Clin Cancer Res 27(1):169–178
27.Miller AM, Shah RH, Pentsova EI, Pourmaleki M, Briggs S, Distefano N, Zheng Y, Skakodub A, Mehta SA, Campos C, Hsieh WY, Selcuklu SD et al (2019) Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid. Nature 565(7741):654–658
留言 (0)