[1] 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.
[2] Huse JT, Edgar M, Halliday J, Mikolaenko I, Lavi E, Rosenblum MK. Multinodular and vacuolating neuronal tumors of the cerebrum:10 cases of a distinctive seizure-associated lesion[J]. Brain Pathol, 2013, 23:515-524.
[3] Baisden BL, Brat DJ, Melhem ER, Rosenblum MK, King AP, Burger PC. Dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum:a lesion often misdiagnosed as glioma:report of 10 cases[J]. Am J Surg Pathol, 2001, 25:494-499.
[4] Harter DH, Omeis I, Forman S, Braun A. Endoscopic resection of an intraventricular dysembryoplastic neuroepithelial tumor of the septum pellucidum[J]. Pediatr Neurosurg, 2006, 42:105-107.
[5] 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.
[6] 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.
[7] Pickles JC, Mankad K, Aizpurua M, Paine SM, Bridges LR, Carceller F, Szychot E, Walker M, Fairchild AR, Mistry T, Ogunbiyi O, Rolland A, Stone TJ, Dryden C, Addy D, Garimberti E, Chalker J, Sahm F, Jones DT, Hargrave D, Jacques TS. A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC)[J]. Neuropathol Appl Neurobiol, 2021, 47:464-467.
[8] Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, Schmid H, Frühwald MC, Schneppenheim R, Siebert R, Paulus W. Cribriform neuroepithelial tumor (CRINET):a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis[J]. J Neuropathol Exp Neurol, 2009, 68:1249-1255.
[9] Johann PD, Hovestadt V, Thomas C, Jeibmann A, Heß K, Bens S, Oyen F, Hawkins C, Pierson CR, Aldape K, Kim SP, Widing E, Sumerauer D, Hauser P, van Landeghem F, Ryzhova M, Korshunov A, Capper D, Jones DTW, Pfister SM, Schneppenheim R, Siebert R, Paulus W, Frühwald MC, Kool M, Hasselblatt M. Cribriform neuroepithelial tumor:molecular characterization of a SMARCB1-deficient non-rhabdoid tumor with favorable long-term outcome[J]. Brain Pathol, 2017, 27:411-418.
[10] 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.
[11] ?astowska M, Trubicka J, Sobocińska A, Wojtas B, Niemira M, Sza?kowska A, Kr?towski A, Karkucińska-Wi?ckowska A, Kaleta M, Ejmont M, Perek-Polnik M, Dembowska-Bagińska B, Grajkowska W, Matyja E. Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes[J]. Acta Neuropathol Commun, 2020, 8:105.
[12] 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.
[13] 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.
[14] Matsumura N, Goda N, Yashige K, Kitagawa M, Yamazaki T, Nobusawa S, Yokoo H. Desmoplastic myxoid tumor, SMARCB1-mutant:a new variant of SMARCB1-deficient tumor of the central nervous system preferentially arising in the pineal region[J]. Virchows Arch, 2021. [Epub ahead of print]
[15] Wang YE, Chen JJ, Wang W, Zhang AL, Zhou W, Wu HB. A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region[J]. Neuropathology, 2021, 41:37-41.
[16] Dadone B, Fontaine D, Mondot L, Cristofari G, Jouvet A, Godfraind C, Varlet P, Ranchère-Vince D, Coindre JM, Gastaud L, Baudoin C, Peyron AC, Thyss A, Coutts M, Michiels JF, Pedeutour F, Burel-Vandenbos F; RENOP. Meningeal SWI/SNF related, matrix-associated, actin-dependent regulator of chromatin, subfamily B member 1(SMARCB1)-deficient tumours:an emerging group of meningeal tumours[J]. Neuropathol Appl Neurobiol, 2017, 43:433-449.
[17] Yoshida A, Arai Y, Kobayashi E, Yonemori K, Ogura K, Hama N, Mukai W, Motoi T, Kawai A, Shibata T, Hiraoka N. CIC break-apart fluorescence in-situ hybridization misses a subset of CIC-DUX4 sarcomas:a clinicopathological and molecular study[J]. Histopathology, 2017, 71:461-469.
[18] Ghanbari N, Lam A, Wycoco V, Lee G. Intracranial myxoid variant of angiomatoid fibrous histiocytoma:a case report and literature review[J]. Cureus, 2019, 11:e4261.
[19] Kao YC, Sung YS, Zhang L, Chen CL, Vaiyapuri S, Rosenblum MK, Antonescu CR. EWSR1 fusions with CREB family transcription factors define a novel myxoid mesenchymal tumor with predilection for intracranial location[J]. Am J Surg Pathol, 2017, 41:482-490.
[20] Bale TA, Oviedo A, Kozakewich H, Giannini C, Davineni PK, Ligon K, Alexandrescu S. Intracranial myxoid mesenchymal tumors with EWSR1-CREB family gene fusions:myxoid variant of angiomatoid fibrous histiocytoma or novel entity[J]? Brain Pathol, 2018, 28:183-191.
[21] Sloan EA, Chiang J, Villanueva-Meyer JE, Alexandrescu S, Eschbacher JM, Wang W, Mafra M, Ud Din N, Carr-Boyd E, Watson M, Punsoni M, Oviedo A, Gilani A, Kleinschmidt-DeMasters BK, Coss DJ, Lopes MB, Raffel C, Berger MS, Chang SM, Reddy A, Ramani B, Ferris SP, Lee JC, Hofmann JW, Cho SJ, Horvai AE, Pekmezci M, Tihan T, Bollen AW, Rodriguez FJ, Ellison DW, Perry A, Solomon DA. Intracranial mesenchymal tumor with FET-CREB fusion:a unifying diagnosis for the spectrum of intracranial myxoid mesenchymal tumors and angiomatoid fibrous histiocytoma-like neoplasms[J]. Brain Pathol, 2021, 31:e12918.
[22] Koelsche C, Mynarek M, Schrimpf D, Bertero L, Serrano J, Sahm F, Reuss DE, Hou Y, Baumhoer D, Vokuhl C, Flucke U, Petersen I, Brück W, Rutkowski S, Zambrano SC, Garcia Leon JL, Diaz Coronado RY, Gessler M, Tirado OM, Mora J, Alonso J, Garcia Del Muro X, Esteller M, Sturm D, Ecker J, Milde T, Pfister SM, Korshunov A, Snuderl M, Mechtersheimer G, Schüller U, Jones DTW, von Deimling A. Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations[J]. Acta Neuropathol, 2018, 136:327-337.
[23] Lee JC, Villanueva-Meyer JE, Ferris SP, Sloan EA, Hofmann JW, Hattab EM, Williams BJ, Guo H, Torkildson J, Florez A, Van Ziffle J, Onodera C, Grenert JP, Cho SJ, Horvai AE, Jones DTW, Pfister SM, Koelsche C, von Deimling A, Korshunov A, Perry A, Solomon DA. Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1[J]. Acta Neuropathol, 2019, 137:521-525.
[24] Alexandrescu S, Meredith DM, Lidov HG, Alaggio R, Novello M, Ligon KL, Vargas SO. Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant[J]. Histopathology, 2021, 78:265-275.
[25] Scheithauer BW, Kovacs K, Horvath E, Kim DS, Osamura RY, Ketterling RP, Lloyd RV, Kim OL. Pituitary blastoma[J]. Acta Neuropathol, 2008, 116:657-666.
[26] Lopes MBS. The 2017 World Health Organization classification of tumors of the pituitary gland:a summary[J]. Acta Neuropathol, 2017, 134:521-535.
[27] Nadaf J, de Kock L, Chong AS, Korbonits M, Thorner P, Benlimame N, Fu L, Peet A, Warner J, Ploner O, Shuangshoti S, Albrecht S, Hamel N, Priest JR, Rivera B, Ragoussis J, Foulkes WD. Molecular characterization of DICER1-mutated pituitary blastoma[J]. Acta Neuropathol, 2021, 141:929-944.
[28] Liu APY, Kelsey MM, Sabbaghian N, Park SH, Deal CL, Esbenshade AJ, Ploner O, Peet A, Traunecker H, Ahmed YHE, Zacharin M, Tiulpakov A, Lapshina AM, Walter AW, Dutta P, Rai A, Korbonits M, de Kock L, Nichols KE, Foulkes WD, Priest JR. Clinical outcomes and complications of pituitary blastoma[J]. J Clin Endocrinol Metab, 2021, 106:351-363. |