[1] Li MM, Datto M, Duncavage EJ, Kulkarni S, Lindeman NI, Roy S, Tsimberidou AM, Vnencak-Jones CL, Wolff DJ, Younes A, Nikiforova MN. Standards and guidelines for the interpretation and reporting of sequence variants in cancer:ajoint consensus recommendation of the Association for Molecular pathology, American Society of Clinical Oncology, and College of American Pathologists[J]. J Mol Diagn, 2017, 19:4-23.
[2] 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.
[3] 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.
[4] Li Z. Introduction of newly identified tumor types in the 2021 WHO Classification of Tumors of the Central Nervous System (fifth edition)[J]. Zhongguo Xian Dai Shen Jing Ji Bing Za Zhi, 2021, 21:769-782.[李智. 2021年世界卫生组织中枢神经系统肿瘤分类(第五版)新增肿瘤介绍[J]. 中国现代神经疾病杂志, 2021, 21:769-782.]
[5] Chiang JCH, Harreld JH, Tanaka R, Li X, Wen J, Zhang C, BouéDR, Rauch TM, Boyd JT, Chen J, Corbo JC, Bouldin TW, Elton SW, Liu LL, Schofield D, Lee SC, Bouffard JP, Georgescu MM, Dossani RH, Aguiar MA, Sances RA, Saad AG, Boop FA, Qaddoumi I, Ellison DW. Septal dysembryoplastic neuroepithelial tumor:a comprehensive clinical, imaging, histopathologic, and molecular analysis[J]. Neuro Oncol, 2019, 21:800-808.
[6] 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.
[7] Kuo AJ, Cheung P, Chen K, Zee BM, Kioi M, Lauring J, Xi Y, Park BH, Shi X, Garcia BA, Li W, Gozani O. NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming[J]. Mol Cell, 2011, 44:609-620.
[8] Jaffe JD, Wang Y, Chan HM, Zhang J, Huether R, Kryukov GV, Bhang HE, Taylor JE, Hu M, Englund NP, Yan F, Wang Z, Robert McDonald E 3rd, Wei L, Ma J, Easton J, Yu Z, deBeaumount R, Gibaja V, Venkatesan K, Schlegel R, Sellers WR, Keen N, Liu J, Caponigro G, Barretina J, Cooke VG, Mullighan C, Carr SA, Downing JR, Garraway LA, Stegmeier F. Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia[J]. Nat Genet, 2013, 45:1386-1391.
[9] Morishita M, di Luccio E. Cancers and the NSD family of histone lysine methyltransferases[J]. Biochim Biophys Acta, 2011, 1816:158-163.
[10] Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA. PDGFRA activating mutations in gastrointestinal stromal tumors[J]. Science, 2003, 299:708-710.
[11] Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J, Kutok J, Clark J, Galinsky I, Griffin JD, Cross NC, Tefferi A, Malone J, Alam R, Schrier SL, Schmid J, Rose M, Vandenberghe P, Verhoef G, Boogaerts M, Wlodarska I, Kantarjian H, Marynen P, Coutre SE, Stone R, Gilliland DG. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome[J]. N Engl J Med, 2003, 348:1201-1214.
[12] Lan H, Chen W, He G, Yang S. miR-140-5p inhibits ovarian cancer growth partially by repression of PDGFRA[J]. Biomed Pharmacother, 2015, 75:117-122.
[13] Zhu Y, Wang Y, Guan B, Rao Q, Wang J, Ma H, Zhang Z, Zhou X. C-kit and PDGFRA gene mutations in triple negative breast cancer[J]. Int J Clin Exp Pathol, 2014, 7:4280-4285.
[14] Zamora C, Castillo M. From dysembryoplastic neuroepithelial tumors to myxoid glioneuronal tumors, a new entity[J]. AJNR Am J Neuroradiol, 2021, 42:E77-78. |