[1] Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK, Ohgaki H, Wiestler OD, Kleihues P, Ellison DW. The 2016 World Health Organization Classification of Tumors of the Central Nervous System:a summary[J]. Acta Neuropathol, 2016, 131:803-820.
[2] Louis DN, Aldape K, Brat DJ, Capper D, Ellison DW, Hawkins C, Paulus W, Perry A, Reifenberger G, Figarella-Branger D, Wesseling P, Batchelor TT, Cairncross JG, Pfister SM, Rutkowski S, Weller M, Wick W, von Deimling A. Announcing cIMPACT-NOW:the consortium to inform molecular and practical approaches to CNS tumor taxonomy[J]. Acta Neuropathol, 2017, 133:1-3.
[3] Yeaney GA, Brat DJ. What every neuropathologist needs to know:update on cIMPACT-NOW[J]. J Neuropathol Exp Neurol, 2019, 78:294-296.
[4] Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, Hawkins C, Ng HK, Pfister SM, Reifenberger G, Soffietti R, von Deimling A, Ellison DW. The 2021 WHO Classification of Tumors of the Central Nervous System:a summary[J]. Neuro Oncol, 2021, 23:1231-1251.
[5] Pirozzi CJ, Yan H. The implications of IDH mutations for cancer development and therapy[J]. Nat Rev Clin Oncol, 2021.[Epub ahead of print]
[6] Jiang T, Nam DH, Ram Z, Poon WS, Wang J, Boldbaatar D, Mao Y, Ma W, Mao Q, You Y, Jiang C, Yang X, Kang C, Qiu X, Li W, Li S, Chen L, Li X, Liu Z, Wang W, Bai H, Yao Y, Li S, Wu A, Sai K, Li G, Yao K, Wei X, Liu X, Zhang Z, Dai Y, Lv S, Wang L, Lin Z, Dong J, Xu G, Ma X, Zhang W, Zhang C, Chen B, You G, Wang Y, Wang Y, Bao Z, Yang P, Fan X, Liu X, Zhao Z, Wang Z, Li Y, Wang Z, Li G, Fang S, Li L, Liu Y, Liu S, Shan X, Liu Y, Chai R, Hu H, Chen J, Yan W, Cai J, Wang H, Chen L, Yang Y, Wang Y, Han L, Wang Q. Clinical practice guidelines for the management of adult diffuse gliomas[J]. Cancer Lett, 2021, 499:60-72.
[7] Tanboon J, Williams EA, Louis DN. The diagnostic use of immunohistochemical surrogates for signature molecular genetic alterations in gliomas[J]. J Neuropathol Exp Neurol, 2016, 75:4-18.
[8] Kristensen BW, Priesterbach-Ackley LP, Petersen JK, Wesseling P. Molecular pathology of tumors of the central nervous system[J]. Ann Oncol, 2019, 30:1265-1278.
[9] Louis DN, Giannini C, Capper D, Paulus W, Figarella-Branger D, Lopes MB, Batchelor TT, Cairncross JG, van den Bent M, Wick W, Wesseling P. cIMPACT-NOW update 2:diagnostic clarifications for diffuse midline glioma, H3 K27M-mutant and diffuse astrocytoma/anaplastic astrocytoma, IDH-mutant[J]. Acta Neuropathol, 2018, 135:639-642.
[10] Brat DJ, Aldape K, Colman H, Holland EC, Louis DN, Jenkins RB, Kleinschmidt-DeMasters BK, Perry A, Reifenberger G, Stupp R, von Deimling A, Weller M. cIMPACT-NOW update 3:recommended diagnostic criteria for "Diffuse astrocytic glioma, IDH-wildtype, with molecular features of glioblastoma, WHO grade Ⅳ"[J]. Acta Neuropathol, 2018, 136:805-810.
[11] Ellison DW, Hawkins C, Jones DTW, Onar-Thomas A, Pfister SM, Reifenberger G, Louis DN. cIMPACT-NOW update 4:diffuse gliomas characterized by MYB, MYBL1, or FGFR1 alterations or BRAFV600E mutation[J]. Acta Neuropathol, 2019, 137:683-687.
[12] Ryall S, Tabori U, Hawkins C. Pediatric low-grade glioma in the era of molecular diagnostics[J]. Acta Neuropathol Commun, 2020, 8:30.
[13] Wefers AK, Stichel D, Schrimpf D, Coras R, Pages M, Tauziède-Espariat A, Varlet P, Schwarz D, Söylemezoglu F, Pohl U, Pimentel J, Meyer J, Hewer E, Japp A, Joshi A, Reuss DE, Reinhardt A, Sievers P, Casalini MB, Ebrahimi A, Huang K, Koelsche C, Low HL, Rebelo O, Marnoto D, Becker AJ, Staszewski O, Mittelbronn M, Hasselblatt M, Schittenhelm J, Cheesman E, de Oliveira RS, Queiroz RGP, Valera ET, Hans VH, Korshunov A, Olar A, Ligon KL, Pfister SM, Jaunmuktane Z, Brandner S, Tatevossian RG, Ellison DW, Jacques TS, Honavar M, Aronica E, Thom M, Sahm F, von Deimling A, Jones DTW, Blumcke I, Capper D. Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course[J]. Acta Neuropathol, 2020, 139:193-209.
[14] Chiang J, Harreld JH, Tinkle CL, Moreira DC, Li X, Acharya S, Qaddoumi I, Ellison DW. A single-center study of the clinicopathologic correlates of gliomas with a MYB or MYBL1 alteration[J]. Acta Neuropathol, 2019, 138:1091-1092.
[15] Tatevossian RG, Tang B, Dalton J, Forshew T, Lawson AR, Ma J, Neale G, Shurtleff SA, Bailey S, Gajjar A, Baker SJ, Sheer D, Ellison DW. MYB upregulation and genetic aberrations in a subset of pediatric low-grade gliomas[J]. Acta Neuropathol, 2010, 120:731-743.
[16] Huse JT, Snuderl M, Jones DT, Brathwaite CD, Altman N, Lavi E, Saffery R, Sexton-Oates A, Blumcke I, Capper D, Karajannis MA, Benayed R, Chavez L, Thomas C, Serrano J, Borsu L, Ladanyi M, Rosenblum MK. Polymorphous low-grade neuroepithelial tumor of the young (PLNTY):an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway[J]. Acta Neuropathol, 2017, 133:417-429.
[17] Chen Y, Tian T, Guo X, Zhang F, Fan M, Jin H, Liu D. Polymorphous low-grade neuroepithelial tumor of the young:case report and review focus on the radiological features and genetic alterations[J]. BMC Neurol, 2020, 20:123.
[18] Qaddoumi I, Orisme W, Wen J, Santiago T, Gupta K, Dalton JD, Tang B, Haupfear K, Punchihewa C, Easton J, Mulder H, Boggs K, Shao Y, Rusch M, Becksfort J, Gupta P, Wang S, Lee RP, Brat D, Peter Collins V, Dahiya S, George D, Konomos W, Kurian KM, McFadden K, Serafini LN, Nickols H, Perry A, Shurtleff S, Gajjar A, Boop FA, Klimo PD Jr, Mardis ER, Wilson RK, Baker SJ, Zhang J, Wu G, Downing JR, Tatevossian RG, Ellison DW. Genetic alterations in uncommon low-grade neuroepithelial tumors:BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology[J]. Acta Neuropathol, 2016, 131:833-845.
[19] Lewis PW, Müller MM, Koletsky MS, Cordero F, Lin S, Banaszynski LA, Garcia BA, Muir TW, Becher OJ, Allis CD. Inhibition of PRC2 activity by a gain-of-function H3 mutation found in pediatric glioblastoma[J]. Science, 2013, 340:857-861.
[20] Castel D, Philippe C, Calmon R, Le Dret L, Truffaux N, Boddaert N, Pagès M, Taylor KR, Saulnier P, Lacroix L, Mackay A, Jones C, Sainte-Rose C, Blauwblomme T, Andreiuolo F, Puget S, Grill J, Varlet P, Debily MA. Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes[J]. Acta Neuropathol, 2015, 130:815-827.
[21] Mondal G, Lee JC, Ravindranathan A, Villanueva-Meyer JE, Tran QT, Allen SJ, Barreto J, Gupta R, Doo P, Van Ziffle J, Onodera C, Devine P, Grenert JP, Samuel D, Li R, Metrock LK, Jin LW, Antony R, Alashari M, Cheshier S, Whipple NS, Bruggers C, Raffel C, Gupta N, Kline CN, Reddy A, Banerjee A, Hall MD, Mehta MP, Khatib Z, Maher OM, Brathwaite C, Pekmezci M, Phillips JJ, Bollen AW, Tihan T, Lucas JT Jr, Broniscer A, Berger MS, Perry A, Orr BA, Solomon DA. Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition[J]. Acta Neuropathol, 2020, 139:1071-1088.
[22] Sievers P, Sill M, Schrimpf D, Stichel D, Reuss DE, Sturm D, Hench J, Frank S, Krskova L, Vicha A, Zapotocky M, Bison B, Castel D, Grill J, Debily MA, Harter PN, Snuderl M, Kramm CM, Reifenberger G, Korshunov A, Jabado N, Wesseling P, Wick W, Solomon DA, Perry A, Jacques TS, Jones C, Witt O, Pfister SM, von Deimling A, Jones DTW, Sahm F. A subset of pediatric-type thalamic gliomas share a distinct DNA methylation profile, H3K27me3 loss and frequent alteration of EGFR[J]. Neuro Oncol, 2021, 23:34-43.
[23] Castel D, Kergrohen T, Tauziède-Espariat A, Mackay A, Ghermaoui S, Lechapt E, Pfister SM, Kramm CM, Boddaert N, Blauwblomme T, Puget S, Beccaria K, Jones C, Jones DTW, Varlet P, Grill J, Debily MA. Histone H3 wild-type DIPG/DMG overexpressing EZHIP extend the spectrum diffuse midline gliomas with PRC2 inhibition beyond H3-K27M mutation[J]. Acta Neuropathol, 2020, 139:1109-1113.
[24] Korshunov A, Capper D, Reuss D, Schrimpf D, Ryzhova M, Hovestadt V, Sturm D, Meyer J, Jones C, Zheludkova O, Kumirova E, Golanov A, Kool M, Schüller U, Mittelbronn M, Hasselblatt M, Schittenhelm J, Reifenberger G, Herold-Mende C, Lichter P, von Deimling A, Pfister SM, Jones DT. Histologically distinct neuroepithelial tumors with histone 3 G34 mutation are molecularly similar and comprise a single nosologic entity[J]. Acta Neuropathol, 2016, 131:137-146.
[25] Haque F, Varlet P, Puntonet J, Storer L, Bountali A, Rahman R, Grill J, Carcaboso AM, Jones C, Layfield R, Grundy RG. Evaluation of a novel antibody to define histone 3.3 G34R mutant brain tumours[J]. Acta Neuropathol Commun, 2017, 5:45.
[26] Korshunov A, Schrimpf D, Ryzhova M, Sturm D, Chavez L, Hovestadt V, Sharma T, Habel A, Burford A, Jones C, Zheludkova O, Kumirova E, Kramm CM, Golanov A, Capper D, von Deimling A, Pfister SM, Jones DTW. H3-/IDH-wild type pediatric glioblastoma is comprised of molecularly and prognostically distinct subtypes with associated oncogenic drivers[J]. Acta Neuropathol, 2017, 134:507-516.
[27] Guerreiro Stucklin AS, Ryall S, Fukuoka K, Zapotocky M, Lassaletta A, Li C, Bridge T, Kim B, Arnoldo A, Kowalski PE, Zhong Y, Johnson M, Li C, Ramani AK, Siddaway R, Nobre LF, de Antonellis P, Dunham C, Cheng S, Boué DR, Finlay JL, Coven SL, de Prada I, Perez-Somarriba M, Faria CC, Grotzer MA, Rushing E, Sumerauer D, Zamecnik J, Krskova L, Garcia Ariza M, Cruz O, Morales La Madrid A, Solano P, Terashima K, Nakano Y, Ichimura K, Nagane M, Sakamoto H, Gil-da-Costa MJ, Silva R, Johnston DL, Michaud J, Wilson B, van Landeghem FKH, Oviedo A, McNeely PD, Crooks B, Fried I, Zhukova N, Hansford JR, Nageswararao A, Garzia L, Shago M, Brudno M, Irwin MS, Bartels U, Ramaswamy V, Bouffet E, Taylor MD, Tabori U, Hawkins C. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas[J]. Nat Commun, 2019, 10:4343.
[28] Clarke M, Mackay A, Ismer B, Pickles JC, Tatevossian RG, Newman S, Bale TA, Stoler I, Izquierdo E, Temelso S, Carvalho DM, Molinari V, Burford A, Howell L, Virasami A, Fairchild AR, Avery A, Chalker J, Kristiansen M, Haupfear K, Dalton JD, Orisme W, Wen J, Hubank M, Kurian KM, Rowe C, Maybury M, Crosier S, Knipstein J, Schüller U, Kordes U, Kram DE, Snuderl M, Bridges L, Martin AJ, Doey LJ, Al-Sarraj S, Chandler C, Zebian B, Cairns C, Natrajan R, Boult JKR, Robinson SP, Sill M, Dunkel IJ, Gilheeney SW, Rosenblum MK, Hughes D, Proszek PZ, Macdonald TJ, Preusser M, Haberler C, Slavc I, Packer R, Ng HK, Caspi S, Popovi? M, Faganel Kotnik B, Wood MD, Baird L, Davare MA, Solomon DA, Olsen TK, Brandal P, Farrell M, Cryan JB, Capra M, Karremann M, Schittenhelm J, Schuhmann MU, Ebinger M, Dinjens WNM, Kerl K, Hettmer S, Pietsch T, Andreiuolo F, Driever PH, Korshunov A, Hiddingh L, Worst BC, Sturm D, Zuckermann M, Witt O, Bloom T, Mitchell C, Miele E, Colafati GS, Diomedi-Camassei F, Bailey S, Moore AS, Hassall TEG, Lowis SP, Tsoli M, Cowley MJ, Ziegler DS, Karajannis MA, Aquilina K, Hargrave DR, Carceller F, Marshall LV, von Deimling A, Kramm CM, Pfister SM, Sahm F, Baker SJ, Mastronuzzi A, Carai A, Vinci M, Capper D, Popov S, Ellison DW, Jacques TS, Jones DTW, Jones C. Infant high-grade gliomas comprise multiple subgroups characterized by novel targetable gene fusions and favorable outcomes[J]. Cancer Discov, 2020, 10:942-963.
[29] Rosenberg S, Simeonova I, Bielle F, Verreault M, Bance B, Le Roux I, Daniau M, Nadaradjane A, Gleize V, Paris S, Marie Y, Giry M, Polivka M, Figarella-Branger D, Aubriot-Lorton MH, Villa C, Vasiljevic A, Lechapt-Zalcman E, Kalamarides M, Sharif A, Mokhtari K, Pagnotta SM, Iavarone A, Lasorella A, Huillard E, Sanson M. A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas[J]. Nat Commun, 2018, 9:2371.
[30] Goode B, Mondal G, Hyun M, Ruiz DG, Lin YH, Van Ziffle J, Joseph NM, Onodera C, Talevich E, Grenert JP, Hewedi IH, Snuderl M, Brat DJ, Kleinschmidt-DeMasters BK, Rodriguez FJ, Louis DN, Yong WH, Lopes MB, Rosenblum MK, Butowski N, Tihan T, Bollen AW, Phillips JJ, Wiita AP, Yeh I, Jacobson MP, Bastian BC, Perry A, Solomon DA. A recurrent kinase domain mutation in PRKCA defines chordoid glioma of the third ventricle[J]. Nat Commun, 2018, 9:810.
[31] Yao K, Duan Z, Du Z, Fan X, Qu Y, Zhang M, Wang Y, Liu H, Sun L, Qi X. PRKCA D463H mutation in chordoid glioma of the third ventricle:a cohort of 16 cases, including two cases harboring BRAFV600E mutation[J]. J Neuropathol Exp Neurol, 2020, 79:1183-1192.
[32] Reinhardt A, Stichel D, Schrimpf D, Sahm F, Korshunov A, Reuss DE, Koelsche C, Huang K, Wefers AK, Hovestadt V, Sill M, Gramatzki D, Felsberg J, Reifenberger G, Koch A, Thomale UW, Becker A, Hans VH, Prinz M, Staszewski O, Acker T, Dohmen H, Hartmann C, Mueller W, Tuffaha MSA, Paulus W, Heß K, Brokinkel B, Schittenhelm J, Monoranu CM, Kessler AF, Loehr M, Buslei R, Deckert M, Mawrin C, Kohlhof P, Hewer E, Olar A, Rodriguez FJ, Giannini C, NageswaraRao AA, Tabori U, Nunes NM, Weller M, Pohl U, Jaunmuktane Z, Brandner S, Unterberg A, Hänggi D, Platten M, Pfister SM, Wick W, Herold-Mende C, Jones DTW, von Deimling A, Capper D. Anaplastic astrocytoma with piloid features, a novel molecular class of IDH wildtype glioma with recurrent MAPK pathway, CDKN2A/B and ATRX alterations[J]. Acta Neuropathol, 2018, 136:273-291.
[33] Reinhardt A, Stichel D, Schrimpf D, Koelsche C, Wefers AK, Ebrahimi A, Sievers P, Huang K, Casalini MB, Fernández-Klett F, Suwala A, Weller M, Gramatzki D, Felsberg J, Reifenberger G, Becker A, Hans VH, Prinz M, Staszewski O, Acker T, Dohmen H, Hartmann C, Paulus W, Heß K, Brokinkel B, Schittenhelm J, Buslei R, Deckert M, Mawrin C, Hewer E, Pohl U, Jaunmuktane Z, Brandner S, Unterberg A, Hänggi D, Platten M, Pfister SM, Wick W, Herold-Mende C, Korshunov A, Reuss DE, Sahm F, Jones DTW, Capper D, von Deimling A. Tumors diagnosed as cerebellar glioblastoma comprise distinct molecular entities[J]. Acta Neuropathol Commun, 2019, 7:163.
[34] Bender K, Perez E, Chirica M, Onken J, Kahn J, Brenner W, Ehret F, Euskirchen P, Koch A, Capper D, Kaul D. High-grade astrocytoma with piloid features (HGAP):the Charité experience with a new central nervous system tumor entity[J]. J Neurooncol, 2021, 153:109-120.
[35] Lehman NL, Usubalieva A, Lin T, Allen SJ, Tran QT, Mobley BC, McLendon RE, Schniederjan MJ, Georgescu MM, Couce M, Dulai MS, Raisanen JM, Al Abbadi M, Palmer CA, Hattab EM, Orr BA. Genomic analysis demonstrates that histologically-defined astroblastomas are molecularly heterogeneous and that tumors with MN1 rearrangement exhibit the most favorable prognosis[J]. Acta Neuropathol Commun, 2019, 7:42.
[36] Hirose T, Nobusawa S, Sugiyama K, Amatya VJ, Fujimoto N, Sasaki A, Mikami Y, Kakita A, Tanaka S, Yokoo H. Astroblastoma:a distinct tumor entity characterized by alterations of the X chromosome and MN1 rearrangement[J]. Brain Pathol, 2018, 28:684-694.
[37] Louis DN, Wesseling P, Aldape K, Brat DJ, Capper D, Cree IA, Eberhart C, Figarella-Branger D, Fouladi M, Fuller GN, Giannini C, Haberler C, Hawkins C, Komori T, Kros JM, Ng HK, Orr BA, Park SH, Paulus W, Perry A, Pietsch T, Reifenberger G, Rosenblum M, Rous B, Sahm F, Sarkar C, Solomon DA, Tabori U, van den Bent MJ, von Deimling A, Weller M, White VA, Ellison DW. cIMPACT-NOW update 6:new entity and diagnostic principle recommendations of the cIMPACT-Utrecht meeting on future CNS tumor classification and grading[J]. Brain Pathol, 2020, 30:844-856.
[38] Chappé C, Padovani L, Scavarda D, Forest F, Nanni-Metellus I, Loundou A, Mercurio S, Fina F, Lena G, Colin C, Figarella-Branger D. Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF (V600E) mutation and expression[J]. Brain Pathol, 2013, 23:574-583.
[39] Prabowo AS, Iyer AM, Veersema TJ, Anink JJ, Schouten-van Meeteren AY, Spliet WG, van Rijen PC, Ferrier CH, Capper D, Thom M, Aronica E. BRAF V600E mutation is associated with mTOR signaling activation in glioneuronal tumors[J]. Brain Pathol, 2014, 24:52-66.
[40] Sievers P, Appay R, Schrimpf D, Stichel D, Reuss DE, Wefers AK, Reinhardt A, Coras R, Ruf VC, Schmid S, de Stricker K, Boldt HB, Kristensen BW, Petersen JK, Ulhøi BP, Gardberg M, Aronica E, Hasselblatt M, Brück W, Bielle F, Mokhtari K, Lhermitte B, Wick W, Herold-Mende C, Hänggi D, Brandner S, Giangaspero F, Capper D, Rushing E, Wesseling P, Pfister SM, Figarella-Branger D, von Deimling A, Sahm F, Jones DTW. Rosette-forming glioneuronal tumors share a distinct DNA methylation profile and mutations in FGFR1, with recurrent co-mutation of PIK3CA and NF1[J]. Acta Neuropathol, 2019, 138:497-504.
[41] Rodriguez FJ, Schniederjan MJ, Nicolaides T, Tihan T, Burger PC, Perry A. High rate of concurrent BRAF-KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN)[J]. Acta Neuropathol, 2015, 129:609-610.
[42] Deng MY, Sill M, Chiang J, Schittenhelm J, Ebinger M, Schuhmann MU, Monoranu CM, Milde T, Wittmann A, Hartmann C, Sommer C, Paulus W, Gärtner J, Brück W, Rüdiger T, Leipold A, Jaunmuktane Z, Brandner S, Giangaspero F, Nozza P, Mora J, Morales la Madrid A, Cruz Martinez O, Hansford JR, Pietsch T, Tietze A, Hernáiz-Driever P, Stoler I, Capper D, Korshunov A, Ellison DW, von Deimling A, Pfister SM, Sahm F, Jones DTW. Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features[J]. Acta Neuropathol, 2018, 136:239-253.
[43] Chiang J, Dalton J, Upadhyaya SA, Patay Z, Qaddoumi I, Li X, Segura AD, Sharma S, Ismail A, Shurtleff SA, Raimondi SC. Chromosome arm 1q gain is an adverse prognostic factor in localized and diffuse leptomeningeal glioneuronal tumors with BRAF gene fusion and 1p deletion[J]. Acta Neuropathol, 2019, 137:179-181.
[44] Pekmezci M, Stevers M, Phillips JJ, Van Ziffle J, Bastian BC, Tsankova NM, Kleinschmidt-DeMasters BK, Rosenblum MK, Tihan T, Perry A, Solomon DA. Multinodular and vacuolating neuronal tumor of the cerebrum is a clonal neoplasm defined by genetic alterations that activate the MAP kinase signaling pathway[J]. Acta Neuropathol, 2018, 135:485-488.
[45] Sievers P, Stichel D, Schrimpf D, Sahm F, Koelsche C, Reuss DE, Wefers AK, Reinhardt A, Huang K, Ebrahimi A, Hou Y, Pajtler KW, Pfister SM, Hasselblatt M, Stummer W, Schick U, Hartmann C, Hagel C, Staszewski O, Reifenberger G, Beschorner R, Coras R, Keyvani K, Kohlhof P, Diomedi-Camassei F, Herold-Mende C, Giangaspero F, Rushing E, Giannini C, Korshunov A, Jones DTW, von Deimling A. FGFR1:TACC1 fusion is a frequent event in molecularly defined extraventricular neurocytoma[J]. Acta Neuropathol, 2018, 136:293-302.
[46] Hou Y, Pinheiro J, Sahm F, Reuss DE, Schrimpf D, Stichel D, Casalini B, Koelsche C, Sievers P, Wefers AK, Reinhardt A, Ebrahimi A, Fernández-Klett F, Pusch S, Meier J, Schweizer L, Paulus W, Prinz M, Hartmann C, Plate KH, Reifenberger G, Pietsch T, Varlet P, Pagès M, Schüller U, Scheie D, de Stricker K, Frank S, Hench J, Pollo B, Brandner S, Unterberg A, Pfister SM, Jones DTW, Korshunov A, Wick W, Capper D, Blümcke I, von Deimling A, Bertero L. Papillary glioneuronal tumor (PGNT) exhibits a characteristic methylation profile and fusions involving PRKCA[J]. Acta Neuropathol, 2019, 137:837-846.
[47] Pages M, Lacroix L, Tauziede-Espariat A, Castel D, Daudigeos-Dubus E, Ridola V, Gilles S, Fina F, Andreiuolo F, Polivka M, Lechapt-Zalcman E, Puget S, Boddaert N, Liu XQ, Bridge JA, Grill J, Chretien F, Varlet P. Papillary glioneuronal tumors:histological and molecular characteristics and diagnostic value of SLC44A1-PRKCA fusion[J]. Acta Neuropathol Commun, 2015, 3:85.
[48] Lucas CG, Villanueva-Meyer JE, Whipple N, Oberheim Bush NA, Cooney T, Chang S, McDermott M, Berger M, Cham E, Sun PP, Putnam A, Zhou H, Bollo R, Cheshier S, Poppe MM, Fung KM, Sung S, Glenn C, Fan X, Bannykh S, Hu J, Danielpour M, Li R, Alva E, Johnston J, Van Ziffle J, Onodera C, Devine P, Grenert JP, Lee JC, Pekmezci M, Tihan T, Bollen AW, Perry A, Solomon DA. Myxoid glioneuronal tumor, PDGFRA p. K385-mutant:clinical, radiologic, and histopathologic features[J]. Brain Pathol, 2020, 30:479-494.
[49] Solomon DA, Korshunov A, Sill M, Jones DTW, Kool M, Pfister SM, Fan X, Bannykh S, Hu J, Danielpour M, Li R, Johnston J, Cham E, Cooney T, Sun PP, Oberheim Bush NA, McDermott M, Van Ziffle J, Onodera C, Grenert JP, Bastian BC, Villanueva-Meyer JE, Pekmezci M, Bollen AW, Perry A. Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p. K385 mutation and DNT-like methylation profile[J]. Acta Neuropathol, 2018, 136:339-343.
[50] Deng MY, Sill M, Sturm D, Stichel D, Witt H, Ecker J, Wittmann A, Schittenhelm J, Ebinger M, Schuhmann MU, Figarella-Branger D, Aronica E, Staszewski O, Preusser M, Haberler C, Lauten M, Schüller U, Hartmann C, Snuderl M, Dunham C, Jabado N, Wesseling P, Deckert M, Keyvani K, Gottardo N, Giangaspero F, von Hoff K, Ellison DW, Pietsch T, Herold-Mende C, Milde T, Witt O, Kool M, Korshunov A, Wick W, von Deimling A, Pfister SM, Jones DTW, Sahm F. Diffuse glioneuronal tumour with oligodendroglioma-like features and nuclear clusters (DGONC):a molecularly defined glioneuronal CNS tumour class displaying recurrent monosomy 14[J]. Neuropathol Appl Neurobiol, 2020, 46:422-430.
[51] Ellison DW, Aldape KD, Capper D, Fouladi M, Gilbert MR, Gilbertson RJ, Hawkins C, Merchant TE, Pajtler K, Venneti S, Louis DN. cIMPACT-NOW update 7:advancing the molecular classification of ependymal tumors[J]. Brain Pathol, 2020, 30:863-866.
[52] Pietsch T, Wohlers I, Goschzik T, Dreschmann V, Denkhaus D, Dörner E, Rahmann S, Klein-Hitpass L. Supratentorial ependymomas of childhood carry C11orf95-RELA fusions leading to pathological activation of the NF-κB signaling pathway[J]. Acta Neuropathol, 2014, 127:609-611.
[53] Parker M, Mohankumar KM, Punchihewa C, Weinlich R, Dalton JD, Li Y, Lee R, Tatevossian RG, Phoenix TN, Thiruvenkatam R, White E, Tang B, Orisme W, Gupta K, Rusch M, Chen X, Li Y, Nagahawhatte P, Hedlund E, Finkelstein D, Wu G, Shurtleff S, Easton J, Boggs K, Yergeau D, Vadodaria B, Mulder HL, Becksfort J, Gupta P, Huether R, Ma J, Song G, Gajjar A, Merchant T, Boop F, Smith AA, Ding L, Lu C, Ochoa K, Zhao D, Fulton RS, Fulton LL, Mardis ER, Wilson RK, Downing JR, Green DR, Zhang J, Ellison DW, Gilbertson RJ. C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma[J]. Nature, 2014, 506:451-455.
[54] Pagès M, Pajtler KW, Puget S, Castel D, Boddaert N, Tauziède-Espariat A, Picot S, Debily MA, Kool M, Capper D, Sainte-Rose C, Chrétien F, Pfister SM, Pietsch T, Grill J, Varlet P, Andreiuolo F. Diagnostics of pediatric supratentorial RELA ependymomas:integration of information from histopathology, genetics, DNA methylation and imaging[J]. Brain Pathol, 2019, 29:325-335.
[55] Andreiuolo F, Varlet P, Tauziède-Espariat A, Jünger ST, Dörner E, Dreschmann V, Kuchelmeister K, Waha A, Haberler C, Slavc I, Corbacioglu S, Riemenschneider MJ, Leipold A, Rüdiger T, Körholz D, Acker T, Russo A, Faber J, Sommer C, Armbrust S, Rose M, Erdlenbruch B, Hans VH, Bernbeck B, Schneider D, Lorenzen J, Ebinger M, Handgretinger R, Neumann M, van Buiren M, Prinz M, Roganovic J, Jakovcevic A, Park SH, Grill J, Puget S, Messing-Jünger M, Reinhard H, Bergmann M, Hattingen E, Pietsch T. Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion:an entity with characteristic clinical, radiological, cytogenetic and histopathological features[J]. Brain Pathol, 2019, 29:205-216.
[56] Zschernack V, Jünger ST, Mynarek M, Rutkowski S, Garre ML, Ebinger M, Neu M, Faber J, Erdlenbruch B, Claviez A, Bielack S, Brozou T, Frühwald MC, Dörner E, Dreschmann V, Stock A, Solymosi L, Hench J, Frank S, Vokuhl C, Waha A, Andreiuolo F, Pietsch T. Supratentorial ependymoma in childhood:more than just RELA or YAP[J]. Acta Neuropathol, 2021, 141:455-466.
[57] Pajtler KW, Witt H, Sill M, Jones DT, Hovestadt V, Kratochwil F, Wani K, Tatevossian R, Punchihewa C, Johann P, Reimand J, Warnatz HJ, Ryzhova M, Mack S, Ramaswamy V, Capper D, Schweizer L, Sieber L, Wittmann A, Huang Z, van Sluis P, Volckmann R, Koster J, Versteeg R, Fults D, Toledano H, Avigad S, Hoffman LM, Donson AM, Foreman N, Hewer E, Zitterbart K, Gilbert M, Armstrong TS, Gupta N, Allen JC, Karajannis MA, Zagzag D, Hasselblatt M, Kulozik AE, Witt O, Collins VP, von Hoff K, Rutkowski S, Pietsch T, Bader G, Yaspo ML, von Deimling A, Lichter P, Taylor MD, Gilbertson R, Ellison DW, Aldape K, Korshunov A, Kool M, Pfister SM. Molecular classification of ependymal tumors across all CNS compartments, histopathological grades, and age groups[J]. Cancer Cell, 2015, 27:728-743.
[58] Pajtler KW, Wen J, Sill M, Lin T, Orisme W, Tang B, Hübner JM, Ramaswamy V, Jia S, Dalton JD, Haupfear K, Rogers HA, Punchihewa C, Lee R, Easton J, Wu G, Ritzmann TA, Chapman R, Chavez L, Boop FA, Klimo P, Sabin ND, Ogg R, Mack SC, Freibaum BD, Kim HJ, Witt H, Jones DTW, Vo B, Gajjar A, Pounds S, Onar-Thomas A, Roussel MF, Zhang J, Taylor JP, Merchant TE, Grundy R, Tatevossian RG, Taylor MD, Pfister SM, Korshunov A, Kool M, Ellison DW. Molecular heterogeneity and CXorf67 alterations in posterior fossa group A (PFA) ependymomas[J]. Acta Neuropathol, 2018, 136:211-226.
[59] Bayliss J, Mukherjee P, Lu C, Jain SU, Chung C, Martinez D, Sabari B, Margol AS, Panwalkar P, Parolia A, Pekmezci M, McEachin RC, Cieslik M, Tamrazi B, Garcia BA, La Rocca G, Santi M, Lewis PW, Hawkins C, Melnick A, David Allis C, Thompson CB, Chinnaiyan AM, Judkins AR, Venneti S. Lowered H3K27me3 and DNA hypomethylation define poorly prognostic pediatric posterior fossa ependymomas[J]. Sci Transl Med, 2016, 8:366ra161.
[60] Ghasemi DR, Sill M, Okonechnikov K, Korshunov A, Yip S, Schutz PW, Scheie D, Kruse A, Harter PN, Kastelan M, Wagner M, Hartmann C, Benzel J, Maass KK, Khasraw M, Sträter R, Thomas C, Paulus W, Kratz CP, Witt H, Kawauchi D, Herold-Mende C, Sahm F, Brandner S, Kool M, Jones DTW, von Deimling A, Pfister SM, Reuss DE, Pajtler KW. MYCN amplification drives an aggressive form of spinal ependymoma[J]. Acta Neuropathol, 2019, 138:1075-1089.
[61] Kumar R, Liu A, Northcott PA. Medulloblastoma genomics in the modern molecular era[J]. Brain Pathol, 2020, 30:679-690.
[62] Hovestadt V, Ayrault O, Swartling FJ, Robinson GW, Pfister SM, Northcott PA. Medulloblastomics revisited:biological and clinical insights from thousands of patients[J]. Nat Rev Cancer, 2020, 20:42-56.
[63] Ho B, Johann PD, Grabovska Y, De Dieu Andrianteranagna MJ, Yao F, Frühwald M, Hasselblatt M, Bourdeaut F, Williamson D, Huang A, Kool M. Molecular subgrouping of atypical teratoid/rhabdoid tumors:a reinvestigation and current consensus[J]. Neuro Oncol, 2020, 22:613-624.
[64] Lambo S, Gröbner SN, Rausch T, Waszak SM, Schmidt C, Gorthi A, Romero JC, Mauermann M, Brabetz S, Krausert S, Buchhalter I, Koster J, Zwijnenburg DA, Sill M, Hübner JM, Mack N, Schwalm B, Ryzhova M, Hovestadt V, Papillon-Cavanagh S, Chan JA, Landgraf P, Ho B, Milde T, Witt O, Ecker J, Sahm F, Sumerauer D, Ellison DW, Orr BA, Darabi A, Haberler C, Figarella-Branger D, Wesseling P, Schittenhelm J, Remke M, Taylor MD, Gil-da-Costa MJ, ?astowska M, Grajkowska W, Hasselblatt M, Hauser P, Pietsch T, Uro-Coste E, Bourdeaut F, Masliah-Planchon J, Rigau V, Alexandrescu S, Wolf S, Li XN, Schüller U, Snuderl M, Karajannis MA, Giangaspero F, Jabado N, von Deimling A, Jones DTW, Korbel JO, von Hoff K, Lichter P, Huang A, Bishop AJR, Pfister SM, Korshunov A, Kool M. The molecular landscape of ETMR at diagnosis and relapse[J]. Nature, 2019, 576:274-280.
[65] Lambo S, von Hoff K, Korshunov A, Pfister SM, Kool M. ETMR:a tumor entity in its infancy[J]. Acta Neuropathol, 2020, 140:249-266.
[66] Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DTW, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen SJ, Balasubramanian G, Worst BC, Pajtler KW, Brabetz S, Johann PD, Sahm F, Reimand J, Mackay A, Carvalho DM, Remke M, Phillips JJ, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, ?astowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lötsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley BC, Schniederjan MJ, Santi M, Buccoliero AM, Dahiya S, Kramm CM, von Bueren AO, von Hoff K, Rutkowski S, Herold-Mende C, Frühwald MC, Milde T, Hasselblatt M, Wesseling P, Rößler J, Schüller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins VP, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann MU, Shalaby T, Grotzer M, van Meter T, Monoranu CM, Felsberg J, Reifenberger G, Snuderl M, Forrester LA, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore AS, Taylor MD, Jones C, Jabado N, Karajannis MA, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M. New brain tumor entities emerge from molecular classification of CNS-PNETs[J]. Cell, 2016, 164:1060-1072.
[67] Ferris SP, Velazquez Vega J, Aboian M, Lee JC, Van Ziffle J, Onodera C, Grenert JP, Saunders T, Chen YY, Banerjee A, Kline CN, Gupta N, Raffel C, Samuel D, Ruiz-Diaz I, Magaki S, Wilson D, Neltner J, Al-Hajri Z, Phillips JJ, Pekmezci M, Bollen AW, Tihan T, Schniederjan M, Cha S, Perry A, Solomon DA. High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis[J]. Brain Pathol, 2020, 30:46-62.
[68] Ostrom QT, Patil N, Cioffi G, Waite K, Kruchko C, Barnholtz-Sloan JS. CBTRUS statistical report:primary brain and other central nervous system tumors diagnosed in the United States in 2013-2017[J]. Neuro Oncol, 2020, 22:iv1-iv96.
[69] Birzu C, Peyre M, Sahm F. Molecular alterations in meningioma:prognostic and therapeutic perspectives[J]. Curr Opin Oncol, 2020, 32:613-622.
[70] Cordova C, Kurz SC. Advances in molecular classification and therapeutic opportunities in meningiomas[J]. Curr Oncol Rep, 2020, 22:84.
[71] Sievers P, Sill M, Blume C, Tauziede-Espariat A, Schrimpf D, Stichel D, Reuss DE, Dogan H, Hartmann C, Mawrin C, Hasselblatt M, Stummer W, Schick U, Hench J, Frank S, Ketter R, Schweizer L, Schittenhelm J, Puget S, Brandner S, Jaunmuktane Z, Küsters B, Abdullaev Z, Pekmezci M, Snuderl M, Ratliff M, Herold-Mende C, Unterberg A, Aldape K, Ellison DW, Wesseling P, Reifenberger G, Wick W, Perry A, Varlet P, Pfister SM, Jones DTW, von Deimling A, Sahm F. Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1[J]. Acta Neuropathol, 2021, 141:281-290.
[72] Shankar GM, Abedalthagafi M, Vaubel RA, Merrill PH, Nayyar N, Gill CM, Brewster R, Bi WL, Agarwalla PK, Thorner AR, Reardon DA, Al-Mefty O, Wen PY, Alexander BM, van Hummelen P, Batchelor TT, Ligon KL, Ligon AH, Meyerson M, Dunn IF, Beroukhim R, Louis DN, Perry A, Carter SL, Giannini C, Curry WT Jr, Cahill DP, Barker FG 2nd, Brastianos PK, Santagata S. Germline and somatic BAP1 mutations in high-grade rhabdoid meningiomas[J]. Neuro Oncol, 2017, 19:535-545.
[73] Williams EA, Wakimoto H, Shankar GM, Barker FG 2nd, Brastianos PK, Santagata S, Sokol ES, Pavlick DC, Shah N, Reddy A, Venstrom JM, Alexander BM, Ross JS, Cahill DP, Ramkissoon SH, Juratli TA. Frequent inactivating mutations of the PBAF complex gene PBRM1 in meningioma with papillary features[J]. Acta Neuropathol, 2020, 140:89-93.
[74] Nassiri F, Wang JZ, Singh O, Karimi S, Dalcourt T, Ijad N, Pirouzmand N, Ng HK, Saladino A, Pollo B, Dimeco F, Yip S, Gao A, Aldape KD, Zadeh G. Loss of H3K27me3 in meningiomas[J]. Neuro Oncol, 2021, 23:1282-1291.
[75] Katz LM, Hielscher T, Liechty B, Silverman J, Zagzag D, Sen R, Wu P, Golfinos JG, Reuss D, Neidert MC, Wirsching HG, Baumgarten P, Herold-Mende C, Wick W, Harter PN, Weller M, von Deimling A, Snuderl M, Sen C, Sahm F. Loss of histone H3K27me3 identifies a subset of meningiomas with increased risk of recurrence[J]. Acta Neuropathol, 2018, 135:955-963.
[76] Sahm F, Schrimpf D, Olar A, Koelsche C, Reuss D, Bissel J, Kratz A, Capper D, Schefzyk S, Hielscher T, Wang Q, Sulman EP, Adeberg S, Koch A, Okuducu AF, Brehmer S, Schittenhelm J, Becker A, Brokinkel B, Schmidt M, Ull T, Gousias K, Kessler AF, Lamszus K, Debus J, Mawrin C, Kim YJ, Simon M, Ketter R, Paulus W, Aldape KD, Herold-Mende C, von Deimling A. TERT promoter mutations and risk of recurrence in meningioma[J]. J Natl Cancer Inst, 2016, 108:djv377.
[77] Sievers P, Hielscher T, Schrimpf D, Stichel D, Reuss DE, Berghoff AS, Neidert MC, Wirsching HG, Mawrin C, Ketter R, Paulus W, Reifenberger G, Lamszus K, Westphal M, Etminan N, Ratliff M, Herold-Mende C, Pfister SM, Jones DTW, Weller M, Harter PN, Wick W, Preusser M, von Deimling A, Sahm F. CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas[J]. Acta Neuropathol, 2020, 140:409-413.
[78] Sahm F, Schrimpf D, Stichel D, Jones DTW, Hielscher T, Schefzyk S, Okonechnikov K, Koelsche C, Reuss DE, Capper D, Sturm D, Wirsching HG, Berghoff AS, Baumgarten P, Kratz A, Huang K, Wefers AK, Hovestadt V, Sill M, Ellis HP, Kurian KM, Okuducu AF, Jungk C, Drueschler K, Schick M, Bewerunge-Hudler M, Mawrin C, Seiz-Rosenhagen M, Ketter R, Simon M, Westphal M, Lamszus K, Becker A, Koch A, Schittenhelm J, Rushing EJ, Collins VP, Brehmer S, Chavez L, Platten M, Hänggi D, Unterberg A, Paulus W, Wick W, Pfister SM, Mittelbronn M, Preusser M, Herold-Mende C, Weller M, von Deimling A. DNA methylation-based classification and grading system for meningioma:a multicentre, retrospective analysis[J]. Lancet Oncol, 2017, 18:682-694.
[79] Sievers P, Chiang J, Schrimpf D, Stichel D, Paramasivam N, Sill M, Gayden T, Casalini B, Reuss DE, Dalton J, Pajtler KW, Hänggi D, Herold-Mende C, Rushing E, Korshunov A, Mawrin C, Weller M, Schlesner M, Wick W, Jabado N, Jones DTW, Pfister SM, von Deimling A, Ellison DW, Sahm F. YAP1-fusions in pediatric NF2-wildtype meningioma[J]. Acta Neuropathol, 2020, 139:215-218.
[80] Thomas C, Wefers A, Bens S, Nemes K, Agaimy A, Oyen F, Vogelgesang S, Rodriguez FJ, Brett FM, McLendon R, Bodi I, Burel-Vandenbos F, Keyvani K, Tippelt S, Poulsen FR, Lipp ES, Giannini C, Reifenberger G, Kuchelmeister K, Pietsch T, Kordes U, Siebert R, Frühwald MC, Johann PD, Sill M, Kool M, von Deimling A, Paulus W, Hasselblatt M. Desmoplastic myxoid tumor, SMARCB1-mutant:clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults[J]. Acta Neuropathol, 2020, 139:277-286.
[81] Küsters-Vandevelde HV, Küsters B, van Engen-van Grunsven AC, Groenen PJ, Wesseling P, Blokx WA. Primary melanocytic tumors of the central nervous system:a review with focus on molecular aspects[J]. Brain Pathol, 2015, 25:209-226.
[82] Küsters-Vandevelde HV, van Engen-van Grunsven IA, Coupland SE, Lake SL, Rijntjes J, Pfundt R, Küsters B, Wesseling P, Blokx WA, Groenen PJ. Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms[J]. Pathol Oncol Res, 2015, 21:439-447.
[83] van de Nes JAP, Koelsche C, Gessi M, Möller I, Sucker A, Scolyer RA, Buckland ME, Pietsch T, Murali R, Schadendorf D, Griewank KG. Activating CYSLTR2 and PLCB4 mutations in primary leptomeningeal melanocytic tumors[J]. J Invest Dermatol, 2017, 137:2033-2035.
[84] Hölsken A, Sill M, Merkle J, Schweizer L, Buchfelder M, Flitsch J, Fahlbusch R, Metzler M, Kool M, Pfister SM, von Deimling A, Capper D, Jones DT, Buslei R. Adamantinomatous and papillary craniopharyngiomas are characterized by distinct epigenomic as well as mutational and transcriptomic profiles[J]. Acta Neuropathol Commun, 2016, 4:20.
[85] Ball MK, Kollmeyer TM, Praska CE, McKenna ML, Giannini C, Raghunathan A, Jentoft ME, Lachance DH, Kipp BR, Jenkins RB, Ida CM. Frequency of false-positive FISH 1p/19q codeletion in adult diffuse astrocytic gliomas[J]. Neurooncol Adv, 2020, 2:vdaa109.
[86] Savola S, Nardi F, Scotlandi K, Picci P, Knuutila S. Microdeletions in 9p21.3 induce false negative results in CDKN2A FISH analysis of Ewing sarcoma[J]. Cytogenet Genome Res, 2007, 119:21-26.
[87] Chai RC, Liu YQ, Wu F, Zeng F, Wang JM, Jiang T, Wang YZ. A quantitative detection method for glioma IDH1 R132H mutation based on pyrosequencing[J]. Zhonghua Shen Jing Wai Ke Za Zhi, 2018, 34:732-736. [柴睿超, 刘玉清, 吴凡, 曾凡, 王军梅, 江涛, 王永志. 焦磷酸测序定量检测脑胶质瘤IDH1R132H突变[J]. 中华神经外科杂志, 2018, 34:732-736.]
[88] Duan ZJ, Qi XL, Yao K. Application of molecular biological techniques in clinical neuropathological diagnosis[J]. Xian Dai Yi Yao Wei Sheng, 2017, 33:3278-3280. [段泽君, 齐雪岭, 姚坤. 分子生物学技术在临床神经病理诊断中的应用[J]. 现代医药卫生, 2017, 33:3278-3280.]
[89] Yokogami K, Yamasaki K, Matsumoto F, Yamashita S, Saito K, Tacheva A, Mizuguchi A, Watanabe T, Ohta H, Takeshima H. Impact of PCR-based molecular analysis in daily diagnosis for the patient with gliomas[J]. Brain Tumor Pathol, 2018, 35:141-147.
[90] Hu D, Wang F, Zhou W, Duan JX, Fan LL, Huang SA. Application of NanoString nCounter System in biomedical fields[J]. Guo Ji Sheng Wu Yi Xue Gong Cheng Za Zhi, 2013, 36:351-356.[胡东, 王芳, 周围, 段家玺, 范灵灵, 黄士昂. NanoString数字基因定量技术在生物医学领域的应用进展[J]. 国际生物医学工程杂志, 2013, 36:351-356.]
[91] Tumor Markers Expert Committee of Chinese Society of Clinical Oncology, Chinese Alliance for Cancer Driver Gene Analysis. Expert consensus on the application of second-generation sequencing technology in precision medical diagnosis of tumor[J]. Zhonghua Yi Xue Za Zhi, 2018, 98:2057-2065. [中国临床肿瘤学会肿瘤标志物专家委员会, 中国肿瘤驱动基因分析联盟. 二代测序技术在肿瘤精准医学诊断中的应用专家共识[J]. 中华医学杂志, 2018, 98:2057-2065.]
[92] Stichel D, Schrimpf D, Casalini B, Meyer J, Wefers AK, Sievers P, Korshunov A, Koelsche C, Reuss DE, Reinhardt A, Ebrahimi A, Fernández-Klett F, Kessler T, Sturm D, Ecker J, Milde T, Herold-Mende C, Witt O, Pfister SM, Wick W, Jones DTW, von Deimling A, Sahm F. Routine RNA sequencing of formalin-fixed paraffin-embedded specimens in neuropathology diagnostics identifies diagnostically and therapeutically relevant gene fusions[J]. Acta Neuropathol, 2019, 138:827-835.
[93] Capper D, Jones DTW, Sill M, Hovestadt V, Schrimpf D, Sturm D, Koelsche C, Sahm F, Chavez L, Reuss DE, Kratz A, Wefers AK, Huang K, Pajtler KW, Schweizer L, Stichel D, Olar A, Engel NW, Lindenberg K, Harter PN, Braczynski AK, Plate KH, Dohmen H, Garvalov BK, Coras R, Hölsken A, Hewer E, Bewerunge-Hudler M, Schick M, Fischer R, Beschorner R, Schittenhelm J, Staszewski O, Wani K, Varlet P, Pages M, Temming P, Lohmann D, Selt F, Witt H, Milde T, Witt O, Aronica E, Giangaspero F, Rushing E, Scheurlen W, Geisenberger C, Rodriguez FJ, Becker A, Preusser M, Haberler C, Bjerkvig R, Cryan J, Farrell M, Deckert M, Hench J, Frank S, Serrano J, Kannan K, Tsirigos A, Brück W, Hofer S, Brehmer S, Seiz-Rosenhagen M, Hänggi D, Hans V, Rozsnoki S, Hansford JR, Kohlhof P, Kristensen BW, Lechner M, Lopes B, Mawrin C, Ketter R, Kulozik A, Khatib Z, Heppner F, Koch A, Jouvet A, Keohane C, Mühleisen H, Mueller W, Pohl U, Prinz M, Benner A, Zapatka M, Gottardo NG, Driever PH, Kramm CM, Müller HL, Rutkowski S, von Hoff K, Frühwald MC, Gnekow A, Fleischhack G, Tippelt S, Calaminus G, Monoranu CM, Perry A, Jones C, Jacques TS, Radlwimmer B, Gessi M, Pietsch T, Schramm J, Schackert G, Westphal M, Reifenberger G, Wesseling P, Weller M, Collins VP, Blümcke I, Bendszus M, Debus J, Huang A, Jabado N, Northcott PA, Paulus W, Gajjar A, Robinson GW, Taylor MD, Jaunmuktane Z, Ryzhova M, Platten M, Unterberg A, Wick W, Karajannis MA, Mittelbronn M, Acker T, Hartmann C, Aldape K, Schüller U, Buslei R, Lichter P, Kool M, Herold-Mende C, Ellison DW, Hasselblatt M, Snuderl M, Brandner S, Korshunov A, von Deimling A, Pfister SM. DNA methylation-based classification of central nervous system tumours[J]. Nature, 2018, 555:469-474. |