Alhalabi O, Chen J, Zhang Y, Lu Y, Wang Q, Ramachandran S, Tidwell RS, Han G, Yan X, Meng J, Wang R, Hoang AG, Wang W-L, Song J, Lopez L, Andreev-Drakhlin A, Siefker-Radtke A, Zhang X, Benedict WF, Shah AY, Wang J, Msaouel P, Zhang M, Guo CC, Czerniak B, Behrens C, Soto L, Papadimitrakopoulou V, Lewis J, Rinsurongkawong W, Rinsurongkawong V, Lee J, Roth J, Swisher S, Wistuba I, Heymach J, Wang J, Campbell MT, Efstathiou E, Titus M, Logothetis CJ, Ho TH, Zhang J, Wang L, Gao J (2022) MTAP deficiency creates an exploitable target for antifolate therapy in 9p21-loss cancers. Nat Commun 13:1797. https://doi.org/10.1038/s41467-022-29397-z
Article CAS PubMed PubMed Central Google Scholar
Bi WL, Greenwald NF, Abedalthagafi M, Wala J, Gibson WJ, Agarwalla PK, Horowitz P, Schumacher SE, Esaulova E, Mei Y, Chevalier A, Ducar M, Thorner AR, van Hummelen P, Stemmer-Rachamimov A, Artyomov M, Al-Mefty O, Dunn GP, Santagata S, Dunn IF, Beroukhim R (2017) Genomic landscape of high-grade meningiomas. NPJ Genom Med 2:15. https://doi.org/10.1038/s41525-017-0014-7
Article CAS PubMed PubMed Central Google Scholar
Boeva V, Popova T, Lienard M, Toffoli S, Kamal M, Le Tourneau C, Gentien D, Servant N, Gestraud P, Rio Frio T, Hupé P, Barillot E, Laes J-F (2014) Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data. Bioinformatics 30:3443–3450. https://doi.org/10.1093/bioinformatics/btu436
Article CAS PubMed PubMed Central Google Scholar
Cicenas J, Kvederaviciute K, Meskinyte I, Meskinyte-Kausiliene E, Skeberdyte A, Cicenas J (2017) KRAS, TP53, CDKN2A, SMAD4, BRCA1, and BRCA2 mutations in pancreatic cancer. Cancers (Basel) 9:42. https://doi.org/10.3390/cancers9050042
Article CAS PubMed Google Scholar
Garzon-Muvdi T, Yang W, Lim M, Brem H, Huang J (2017) Atypical and anaplastic meningioma: outcomes in a population based study. J Neurooncol 133:321–330. https://doi.org/10.1007/s11060-017-2436-6
Article CAS PubMed Google Scholar
Goschzik T, Schwalbe EC, Hicks D, Smith A, Zur Muehlen A, Figarella-Branger D, Doz F, Rutkowski S, Lannering B, Pietsch T, Clifford SC (2018) Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH Medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial. Lancet Oncol 19:1602–1616. https://doi.org/10.1016/S1470-2045(18)30532-1
Article CAS PubMed PubMed Central Google Scholar
Hamid A, Petreaca B, Petreaca R (2019) Frequent homozygous deletions of the CDKN2A locus in somatic cancer tissues. Mutat Res 815:30–40. https://doi.org/10.1016/j.mrfmmm.2019.04.002
Article CAS PubMed PubMed Central Google Scholar
Hovestadt V, Zapatka M (2017) Conumee: enahnced copy-numebr variation analysis using illumina DNA methylation arrays, R package version 1.9.0, https://bioconductor.org/packages/conumee
Hovestadt V, Remke M, Kool M, Pietsch T, Northcott PA, Fischer R, Cavalli FMG, Ramaswamy V, Zapatka M, Reifenberger G, Rutkowski S, Schick M, Bewerunge-Hudler M, Korshunov A, Lichter P, Taylor MD, Pfister SM, Jones DTW (2013) Robust molecular subgrouping and copy-number profiling of Medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays. Acta Neuropathol 125:913–916. https://doi.org/10.1007/s00401-013-1126-5
Article PubMed PubMed Central Google Scholar
Hovestadt V, Jones DTW, Picelli S, Wang W, Kool M, Northcott PA, Sultan M, Stachurski K, Ryzhova M, Warnatz H-J, Ralser M, Brun S, Bunt J, Jäger N, Kleinheinz K, Erkek S, Weber UD, Bartholomae CC, von Kalle C, Lawerenz C, Eils J, Koster J, Versteeg R, Milde T, Witt O, Schmidt S, Wolf S, Pietsch T, Rutkowski S, Scheurlen W, Taylor MD, Brors B, Felsberg J, Reifenberger G, Borkhardt A, Lehrach H, Wechsler-Reya RJ, Eils R, Yaspo M-L, Landgraf P, Korshunov A, Zapatka M, Radlwimmer B, Pfister SM, Lichter P (2014) Decoding the regulatory landscape of Medulloblastoma using DNA methylation sequencing. Nature 510:537–541. https://doi.org/10.1038/nature13268
Article CAS PubMed Google Scholar
International Agency for Research on Cancer WHO Classification of Tumours Editorial Board (2021) Central nervous system tumours, 5th edn. WHO, Lyon. (France)
Li J, Poi MJ, Tsai M-D (2011) Regulatory mechanisms of tumor suppressor P16(INK4A) and their relevance to cancer. Biochemistry 50:5566–5582. https://doi.org/10.1021/bi200642e
Article CAS PubMed Google Scholar
Magill ST, Vasudevan HN, Seo K, Villanueva-Meyer JE, Choudhury A, John Liu S, Pekmezci M, Findakly S, Hilz S, Lastella S, Demaree B, Braunstein SE, Bush NAO, Aghi MK, Theodosopoulos PV, Sneed PK, Abate AR, Berger MS, McDermott MW, Lim DA, Ullian EM, Costello JF, Raleigh DR (2020) Multiplatform genomic profiling and magnetic resonance imaging identify mechanisms underlying intratumor heterogeneity in meningioma. Nat Commun 11:4803. https://doi.org/10.1038/s41467-020-18582-7
Article CAS PubMed PubMed Central Google Scholar
Maragkou T, Reinhard S, Jungo P, Pasquier B, Neuenschwander M, Schucht P, Vassella E, Hewer E (2023) Evaluation of MTAP and p16 immunohistochemical deficiency as surrogate marker for CDKN2A/B homozygous deletion in gliomas. Pathology 55:466–477. https://doi.org/10.1016/j.pathol.2023.01.005
Article CAS PubMed Google Scholar
Mountzios G, Rampias T, Psyrri A (2014) The mutational spectrum of squamous-cell carcinoma of the head and neck: targetable genetic events and clinical impact. Ann Oncol 25:1889–1900. https://doi.org/10.1093/annonc/mdu143
Article CAS PubMed Google Scholar
Ozkizilkaya HI, Vinocha A, Dono A, Ogunbona OB, Toruner GA, Aung PP, Kamiya Matsuoka C, Esquenazi Y, DeMonte F, Ballester LY (2024) MTAP and p16 IHC as markers for CDKN2A/B loss in meningiomas. Cancers (Basel) 16:3299. https://doi.org/10.3390/cancers16193299
Article CAS PubMed Google Scholar
Perry A, Banerjee R, Lohse CM, Kleinschmidt-DeMasters BK, Scheithauer BW (2002) A role for chromosome 9p21 deletions in the malignant progression of meningiomas and the prognosis of anaplastic meningiomas. Brain Pathol 12:183–190. https://doi.org/10.1111/j.1750-3639.2002.tb00433.x
Article CAS PubMed Google Scholar
Sahm F, Aldape KD, Brastianos PK, Brat DJ, Dahiya S, von Deimling A, Giannini C, Gilbert MR, Louis DN, Raleigh DR, Reifenberger G, Santagata S, Sarkar C, Zadeh G, Wesseling P, Perry A (2024) cIMPACT-NOW update 8: clarifications on molecular risk parameters and recommendations for WHO grading of meningiomas. https://doi.org/10.1093/neuonc/noae170. Neuro Oncol noae170
Sasaki S, Takeda M, Hirose T, Fujii T, Itami H, Uchiyama T, Morita K, Matsuda R, Yamada S, Nakagawa I, Ohbayashi C (2022) Correlation of MTAP immunohistochemistry with CDKN2A status assessed by fluorescence in situ hybridization and clinicopathological features in CNS WHO grade 2 and 3 meningiomas: A single center cohort study. J Neuropathol Exp Neurol 81:117–126. https://doi.org/10.1093/jnen/nlab127
Article CAS PubMed Google Scholar
Stransky N, Egloff AM, Tward AD, Kostic AD, Cibulskis K, Sivachenko A, Kryukov GV, Lawrence MS, Sougnez C, McKenna A, Shefler E, Ramos AH, Stojanov P, Carter SL, Voet D, Cortés ML, Auclair D, Berger MF, Saksena G, Guiducci C, Onofrio RC, Parkin M, Romkes M, Weissfeld JL, Seethala RR, Wang L, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Winckler W, Ardlie K, Gabriel SB, Meyerson M, Lander ES, Getz G, Golub TR, Garraway LA, Grandis JR (2011) The mutational landscape of head and neck squamous cell carcinoma. Science 333:1157–1160. https://doi.org/10.1126/science.1208130
Article CAS PubMed PubMed Central Google Scholar
Tang V, Lu R, Mirchia K, Van Ziffle J, Devine P, Lee J, Phillips JJ, Perry A, Raleigh DR, Lucas C-HG, Solomon DA (2023) Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas. Acta Neuropathol 145:497–500. https://doi.org/10.1007/s00401-023-02544-6
Article CAS PubMed PubMed Central Google Scholar
Tosefsky K, Martin KC, Rebchuk AD, Wang JZ, Nassiri F, Lum A, Zadeh G, Makarenko S, Yip S (2024) Molecular prognostication in grade 3 meningiomas and p16/MTAP immunohistochemistry for predicting CDKN2A/B status. Neurooncol Adv 6:vdae002. https://doi.org/10.1093/noajnl/vdae002
Article PubMed PubMed Central Google Scholar
Vasudevan HN, Braunstein SE, Phillips JJ, Pekmezci M, Tomlin BA, Wu A, Reis GF, Magill ST, Zhang J, Feng FY, Nicholaides T, Chang SM, Sneed PK, McDermott MW, Berger MS, Perry A, Raleigh DR (2018) Comprehensive molecular profiling identifies FOXM1 as a key transcription factor for meningioma proliferation. Cell Rep 22:3672–3683. https://doi.org/10.1016/j.celrep.2018.03.013
Article CAS PubMed PubMed Central Google Scholar
Vasudevan HN, Choudhury A, Hilz S, Villanueva-Meyer JE, Chen WC, Lucas C-HG, Braunstein SE, Oberheim Bush NA, Butowski N, Pekmezci M, McDermott MW, Perry A, Solomon DA, Magill ST, Raleigh DR (2022) Intratumor and informatic heterogeneity influence meningioma molecular classification. Acta Neuropathol 144:579–583. https://doi.org/10.1007/s00401-022-02455-y
Article PubMed PubMed Central Google Scholar
Vernooij MW, Ikram MA, Tanghe HL, Vincent AJPE, Hofman A, Krestin GP, Niessen WJ, Breteler MMB, van der Lugt A (2007) Incidental findings on brain MRI in the general population. N Engl J Med 357:1821–1828. https://doi.org/10.1056/NEJMoa070972
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