Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)—case-based reviews

go back to reference Al-Battashi A, Al Hajri Z, Perry A, Al-Kindi H, Al-Ghaithi I (2019) A cerebellar high-grade neuroepithelial tumour with BCOR alteration in a five-year-old child: a case report. Sultan Qaboos Univ Med J 19:e153–e156CrossRefPubMedPubMedCentral Al-Battashi A, Al Hajri Z, Perry A, Al-Kindi H, Al-Ghaithi I (2019) A cerebellar high-grade neuroepithelial tumour with BCOR alteration in a five-year-old child: a case report. Sultan Qaboos Univ Med J 19:e153–e156CrossRefPubMedPubMedCentral

go back to reference Appay R, Macagno N, Padovani L, Korshunov A, Kool M, Andre N, Scavarda D, Pietsch T, Figarella-Branger D (2017) HGNET-BCOR tumors of the cerebellum: clinicopathologic and molecular characterization of 3 cases. Am J Surg Pathol 41:1254–1260CrossRefPubMed Appay R, Macagno N, Padovani L, Korshunov A, Kool M, Andre N, Scavarda D, Pietsch T, Figarella-Branger D (2017) HGNET-BCOR tumors of the cerebellum: clinicopathologic and molecular characterization of 3 cases. Am J Surg Pathol 41:1254–1260CrossRefPubMed

go back to reference Astolfi A, Fiore M, Melchionda F, Indio V, Bertuccio SN, Pession A (2019) BCOR involvement in cancer. Epigenomics 11:835–855CrossRefPubMedPubMedCentral Astolfi A, Fiore M, Melchionda F, Indio V, Bertuccio SN, Pession A (2019) BCOR involvement in cancer. Epigenomics 11:835–855CrossRefPubMedPubMedCentral

go back to reference 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 (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474CrossRefPubMedPubMedCentral 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 (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474CrossRefPubMedPubMedCentral

go back to reference 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 (2020) High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication—a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 30:46–62CrossRefPubMed 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 (2020) High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication—a comprehensive clinical, radiographic, pathologic, and genomic analysis. Brain Pathol 30:46–62CrossRefPubMed

go back to reference Huynh KD, Fischle W, Verdin E, Bardwell VJ (2000) BCOR, a novel corepressor involved in BCL-6 repression. Genes Dev 14:1810–1823PubMedPubMedCentral Huynh KD, Fischle W, Verdin E, Bardwell VJ (2000) BCOR, a novel corepressor involved in BCL-6 repression. Genes Dev 14:1810–1823PubMedPubMedCentral

go back to reference Kirkman MA, Pickles JC, Fairchild AR, Avery A, Pietsch T, Jacques TS, Aquilina K (2018) Early wound site seeding in a patient with central nervous system high-grade neuroepithelial tumor with BCOR alteration. World Neurosurg 116:279–284CrossRefPubMed Kirkman MA, Pickles JC, Fairchild AR, Avery A, Pietsch T, Jacques TS, Aquilina K (2018) Early wound site seeding in a patient with central nervous system high-grade neuroepithelial tumor with BCOR alteration. World Neurosurg 116:279–284CrossRefPubMed

go back to reference Louis DN, Perry A, Reifenberger G (2016) The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol (Berl) 131:803–820CrossRef Louis DN, Perry A, Reifenberger G (2016) The 2016 World Health Organization classification of tumors of the central nervous system: a summary. Acta Neuropathol (Berl) 131:803–820CrossRef

go back to reference Massimino M, Gandola L, Biassoni V, Spreafico F, Schiavello E, Poggi G, Pecori E, Vajna De Pava M, Modena P, Antonelli M, Giangaspero F (2013) Evolving of therapeutic strategies for CNS-PNET. Pediatr Blood Cancer 60:2031–2035CrossRefPubMed Massimino M, Gandola L, Biassoni V, Spreafico F, Schiavello E, Poggi G, Pecori E, Vajna De Pava M, Modena P, Antonelli M, Giangaspero F (2013) Evolving of therapeutic strategies for CNS-PNET. Pediatr Blood Cancer 60:2031–2035CrossRefPubMed

go back to reference Miele E, De Vito R, Ciolfi A, Pedace L, Russo I, De Pasquale MD, Di Giannatale A, Crocoli A, Angelis B, Tartaglia M, Alaggio R, Milano GM (2020) DNA methylation profiling for diagnosing undifferentiated sarcoma with capicua transcriptional receptor (CIC) alterations. Int J Mol Sci 21:E1818CrossRefPubMed Miele E, De Vito R, Ciolfi A, Pedace L, Russo I, De Pasquale MD, Di Giannatale A, Crocoli A, Angelis B, Tartaglia M, Alaggio R, Milano GM (2020) DNA methylation profiling for diagnosing undifferentiated sarcoma with capicua transcriptional receptor (CIC) alterations. Int J Mol Sci 21:E1818CrossRefPubMed

go back to reference Paret C, Theruvath J, Russo A, Kron B, El Malki K, Lehmann N, Wingerter A, Neu MA, Gerhold-Ay A, Wagner W, Sommer C, Pietsch T, Seidmann L, Faber J (2016) Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy. Oncotarget 7:83378–83391CrossRefPubMedPubMedCentral Paret C, Theruvath J, Russo A, Kron B, El Malki K, Lehmann N, Wingerter A, Neu MA, Gerhold-Ay A, Wagner W, Sommer C, Pietsch T, Seidmann L, Faber J (2016) Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy. Oncotarget 7:83378–83391CrossRefPubMedPubMedCentral

go back to reference Paret C, Russo A, Otto H, Mayer A, Zahnreich S, Wagner W, Samuel D, Scharnhorst D, Solomon DA, Dhall G (2017) Personalized therapy: CNS HGNET-BCOR responsiveness to arsenic trioxide combined with radiotherapy. Oncotarget 8:114210–114225CrossRefPubMedPubMedCentral Paret C, Russo A, Otto H, Mayer A, Zahnreich S, Wagner W, Samuel D, Scharnhorst D, Solomon DA, Dhall G (2017) Personalized therapy: CNS HGNET-BCOR responsiveness to arsenic trioxide combined with radiotherapy. Oncotarget 8:114210–114225CrossRefPubMedPubMedCentral

go back to reference Petruzzellis G, Valentini D, Del Bufalo F, Ceglie G, Carai A, Colafati GS, Agolini E, Diomedi-Camassei F, Corsetti T, Alessi I, Mastronuzzi A, Locatelli F, Cacchione A (2019) Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with down syndrome. Front Oncol 9:277CrossRefPubMedPubMedCentral Petruzzellis G, Valentini D, Del Bufalo F, Ceglie G, Carai A, Colafati GS, Agolini E, Diomedi-Camassei F, Corsetti T, Alessi I, Mastronuzzi A, Locatelli F, Cacchione A (2019) Vemurafenib treatment of pleomorphic xanthoastrocytoma in a child with down syndrome. Front Oncol 9:277CrossRefPubMedPubMedCentral

go back to reference Simpson A, Petnga W, Macaulay VM, Weyer-Czernilofsky U, Bogenrieder T (2017) Insulin-like growth factor (IGF) pathway targeting in cancer: role of the IGF axis and opportunities for future combination studies. Target Oncol 12:571–597CrossRefPubMedPubMedCentral Simpson A, Petnga W, Macaulay VM, Weyer-Czernilofsky U, Bogenrieder T (2017) Insulin-like growth factor (IGF) pathway targeting in cancer: role of the IGF axis and opportunities for future combination studies. Target Oncol 12:571–597CrossRefPubMedPubMedCentral

go back to reference Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DT, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E (2016) New brain tumor entities emerge from molecular classification of CNS- PNETs. Cell 64:1060–1072CrossRef Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DT, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E (2016) New brain tumor entities emerge from molecular classification of CNS- PNETs. Cell 64:1060–1072CrossRef

go back to reference Vewinger N, Huprich S, Seidmann L, Russo A, Alt F, Bender H, Sommer C, Samuel D, Lehmann N, Backes N, Roth L, Harter PN, Filipski K, Faber J, Paret C (2019) IGF1R is a potential new therapeutic target for HGNET-BCOR brain tumor patients. Int J Mol Sci 20:3027CrossRefPubMedCentral Vewinger N, Huprich S, Seidmann L, Russo A, Alt F, Bender H, Sommer C, Samuel D, Lehmann N, Backes N, Roth L, Harter PN, Filipski K, Faber J, Paret C (2019) IGF1R is a potential new therapeutic target for HGNET-BCOR brain tumor patients. Int J Mol Sci 20:3027CrossRefPubMedCentral

go back to reference Yoshida Y, Nobusawa S, Nakata S, Nakada M, Arakawa Y, Mineharu Y (2018) CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol 28:710–720CrossRefPubMed Yoshida Y, Nobusawa S, Nakata S, Nakada M, Arakawa Y, Mineharu Y (2018) CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue. Brain Pathol 28:710–720CrossRefPubMed