Listed below are the publications to which the group has contributed in the last two years, as well as selected additional manuscripts.

A full listing of publications in Google Scholar can be accessed here: Link

Publications 2020

Appay R, Pages M, Colin C, Jones DTW, Varlet P, Figarella-Branger D.
Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases.
Acta Neuropathol Commun. 2020 Jun 30;8(1):95. doi: 10.1186/s40478-020-00978-7. PMID: 32605662

van Tilburg CM, Witt R, Heiss M, Pajtler KW, Plass C, Poschke I, Platten M, Harting I, Sedlaczek O, Freitag A, Meyrath D, Taylor L, Balasubramanian GP, Jäger N, Pfaff E, Jones BC, Milde T, Pfister SM, Jones DTW, Kopp-Schneider A, Witt O.
INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies.
BMC Cancer. 2020 Jun 5;20(1):523. doi: 10.1186/s12885-020-07008-8.
PMID: 32503469

Usta D, Sigaud R, Buhl JL, Selt F, Marquardt V, Pauck D, Jansen J, Pusch S, Ecker J, Hielscher T, Vollmer J, Sommerkamp AC, Rubner T, Hargrave D, van Tilburg CM, Pfister SM, Jones DTW, Remke M, Brummer T, Witt O, Milde T.
A cell-based MAPK reporter assay reveals synergistic MAPK pathway activity suppression by MAPK inhibitor combination in BRAF-driven pediatric low-grade glioma cells.
Mol Cancer Ther. 2020 May 25. doi: 10.1158/1535-7163.MCT-19-1021.
PMID: 32451331

Sommerkamp AC, Uhrig S, Stichel D, St-Onge P, Sun P, Jäger N, von Deimling A, Sahm F, Pfister SM, Korshunov A, Sinnett D, Jabado N, Wefers AK, Jones DTW.
An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data.
Acta Neuropathol. 2020 May 31. doi: 10.1007/s00401-020-02167-1.
PMID: 32476062

Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM.
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Nature. 2020 Apr;580(7803):396-401. doi: 10.1038/s41586-020-2164-5. Epub 2020 Apr 1.
PMID: 32296180

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, Schuller 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 JK, 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, Popovic 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 TE, 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.
Cancer Discov. 2020 Apr 1. pii: CD-19-1030. doi: 10.1158/2159-8290.CD-19-1030.
PMID: 32238360

Schubert NA, Lowery CD, Bergthold G, Koster J, Eleveld TF, Rodríguez A, Jones DTW, Vassal G, Stancato LF, Pfister SM, Caron HN, Molenaar JJ.
Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers.
Eur J Cancer. 2020 Mar 27;130:168-181. doi: 10.1016/j.ejca.2020.01.027.
PMID: 32224415

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.
Acta Neuropathol. 2020 Mar 19. doi: 10.1007/s00401-020-02142-w.
PMID: 32193787

Packer RJ, Iavarone A, Jones DTW, Blakeley JO, Bouffet E, Fisher MJ, Hwang E, Hawkins C, Kilburn L, MacDonald T, Pfister SM, Rood B, Rodriguez FJ, Tabori U, Ramaswamy V, Zhu Y, Fangusaro J, Johnston SA, Gutmann DH.
Implications of New Understandings of Gliomas in Children and Adults with NF1: Report of a Consensus Conference.
Neuro Oncol. 2020 Feb 14. pii: noaa036. doi: 10.1093/neuonc/noaa036.
PMID: 32055852

Aichmüller CF, Iskar M, Jones DTW, Korshunov A, Radlwimmer B, Kool M, Ernst A, Pfister SM, Lichter P, Zapatka M.
Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response.
Neuro Oncol. 2020 Feb 13. pii: noaa035. doi: 10.1093/neuonc/noaa035.
PMID: 32052037

Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M; PCAWG-Structural Variation Working Group, Brors B, Rippe K, Jones DTW, Feuerbach L; PCAWG Consortium.
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Nat Commun. 2020 Feb 5;11(1):733. doi: 10.1038/s41467-019-13824-9.
PMID: 32024817

ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium.
Pan-cancer analysis of whole genomes.
Nature. 2020 Feb;578(7793):82-93. doi: 10.1038/s41586-020-1969-6. Epub 2020 Feb 5.
PMID: 32025007

Maros ME, Capper D, Jones DTW, Hovestadt V, von Deimling A, Pfister SM, Benner A, Zucknick M, Sill M.
Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data.
Nat Protoc. 2020 Jan 13. doi: 10.1038/s41596-019-0251-6.
PMID: 31932775

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; German Consortium "Aggressive Meningiomas".
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1.
Acta Neuropathol. 2020 Dec 14. doi: 10.1007/s00401-020-02247-2. Online ahead of print.
PMID: 33319313

Chen CCL, Deshmukh S, Jessa S, Hadjadj D, Lisi V, Andrade AF, Faury D, Jawhar W, Dali R, Suzuki H, Pathania M, A D, Dubois F, Woodward E, Hébert S, Coutelier M, Karamchandani J, Albrecht S, Brandner S, De Jay N, Gayden T, Bajic A, Harutyunyan AS, Marchione DM, Mikael LG, Juretic N, Zeinieh M, Russo C, Maestro N, Bassenden AV, Hauser P, Virga J, Bognar L, Klekner A, Zapotocky M, Vicha A, Krskova L, Vanova K, Zamecnik J, Sumerauer D, Ekert PG, Ziegler DS, Ellezam B, Filbin MG, Blanchette M, Hansford JR, Khuong-Quang DA, Berghuis AM, Weil AG, Garcia BA, Garzia L, Mack SC, Beroukhim R, Ligon KL, Taylor MD, Bandopadhayay P, Kramm C, Pfister SM, Korshunov A, Sturm D, Jones DTW, Salomoni P, Kleinman CL, Jabado N.
Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.
Cell. 2020 Dec 10;183(6):1617-1633.e22. Epub 2020 Nov 30.
PMID: 33259802

Suwala AK, Stichel D, Schrimpf D, Kloor M, Wefers AK, Reinhardt A, Maas SLN, Kratz CP, Schweizer L, Hasselblatt M, Snuderl M, Abedalthagafi MSJ, Abdullaev Z, Monoranu CM, Bergmann M, Pekrun A, Freyschlag C, Aronica E, Kramm CM, Hinz F, Sievers P, Korshunov A, Kool M, Pfister SM, Sturm D, Jones DTW, Wick W, Unterberg A, Hartmann C, Dodgshun A, Tabori U, Wesseling P, Sahm F, von Deimling A, Reuss DE.
Primary mismatch repair deficient IDH-mutant astrocytoma (PMMRDIA) is a distinct type with a poor prognosis.
Acta Neuropathol. 2020 Nov 20. doi: 10.1007/s00401-020-02243-6. Online ahead of print.
PMID: 33216206

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.
Neuro Oncol. 2020 Nov 1:noaa251. doi: 10.1093/neuonc/noaa251. Online ahead of print.
PMID: 33130881

Selt F, van Tilburg CM, Bison B, Sievers P, Harting I, Ecker J, Pajtler KW, Sahm F, Bahr A, Simon M, Jones DTW, Well L, Mautner VF, Capper D, Hernáiz Driever P, Gnekow A, Pfister SM, Witt O, Milde T.
Response to trametinib treatment in progressive pediatric low-grade glioma patients.
J Neurooncol. 2020 Oct 7. doi: 10.1007/s11060-020-03640-3. Online ahead of print.
PMID: 33026636

Banan R, Stichel D, Bleck A, Hong B, Lehmann U, Suwala A, Reinhardt A, Schrimpf D, Buslei R, Stadelmann C, Ehlert K, Prinz M, Acker T, Schittenhelm J, Kaul D, Schweizer L, Capper D, Harter PN, Etminan N, Jones DTW, Pfister SM, Herold-Mende C, Wick W, Sahm F, von Deimling A, Hartmann C, Reuss DE.
Infratentorial IDH-mutant astrocytoma is a distinct subtype.
Acta Neuropathol. 2020 Oct;140(4):569-581. doi: 10.1007/s00401-020-02194-y.
PMID: 32776277

Dodgshun AJ, Fukuoka K, Edwards M, Bianchi VJ, Das A, Sexton-Oates A, Larouche V, Vanan MI, Lindhorst S, Yalon M, Mason G, Crooks B, Constantini S, Massimino M, Chiaravalli S, Ramdas J, Mason W, Ashraf S, Farah R, Van Damme A, Opocher E, Hamid SA, Ziegler DS, Samuel D, Cole KA, Tomboc P, Stearns D, Thomas GA, Lossos A, Sullivan M, Hansford JR, Mackay A, Jones C, Jones DTW, Ramaswamy V, Hawkins C, Bouffet E, Tabori U.
Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.
Acta Neuropathol. 2020 Sep 8. doi: 10.1007/s00401-020-02209-8. Online ahead of print.
PMID: 32895736

Fittall MW, Lyskjaer I, Ellery P, Lombard P, Ijaz J, Strobl AC, Oukrif D, Tarabichi M, Sill M, Koelsche C, Mechtersheimer G, Demeulemeester J, Tirabosco R, Amary F, Campbell PJ, Pfister S, Jones DTW, Pillay N, Van Loo P, Behjati S, Flanagan AM.
Drivers underpinning the malignant transformation of giant cell tumour of bone.
J Pathol. 2020 Aug 31. doi: 10.1002/path.5537. Online ahead of print.
PMID: 32866294

Banan R, Stichel D, Bleck A, Hong B, Lehmann U, Suwala A, Reinhardt A, Schrimpf D, Buslei R, Stadelmann C, Ehlert K, Prinz M, Acker T, Schittenhelm J, Kaul D, Schweizer L, Capper D, Harter PN, Etminan N, Jones DTW, Pfister SM, Herold-Mende C, Wick W, Sahm F, von Deimling A, Hartmann C, Reuss DE.
Infratentorial IDH-mutant astrocytoma is a distinct subtype.
Acta Neuropathol. 2020 Aug 10. doi: 10.1007/s00401-020-02194-y.
PMID: 32776277

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.
Acta Neuropathol. 2020 Sep;140(3):409-413. doi: 10.1007/s00401-020-02188-w.
PMID: 32642869

Kommoss FK, Chang KT, Stichel D, Banito A, Jones DT, Heilig CE, Fröhling S, Sahm F, Stenzinger A, Hartmann W, Mechtersheimer G, Sinn HP, Schmidt D, Kommoss F, von Deimling A, Koelsche C.
Endometrial stromal sarcomas with BCOR-rearrangement harbor MDM2 amplifications.
J Pathol Clin Res. 2020 Jul;6(3):178-184. doi: 10.1002/cjp2.165. Epub 2020 Apr 30.
PMID: 32352245

Appay R, Pages M, Colin C, Jones DTW, Varlet P, Figarella-Branger D.
Diffuse leptomeningeal glioneuronal tumor: a double misnomer? A report of two cases.
Acta Neuropathol Commun. 2020 Jun 30;8(1):95. doi: 10.1186/s40478-020-00978-7.
PMID: 32605662

van Tilburg CM, Witt R, Heiss M, Pajtler KW, Plass C, Poschke I, Platten M, Harting I, Sedlaczek O, Freitag A, Meyrath D, Taylor L, Balasubramanian GP, Jäger N, Pfaff E, Jones BC, Milde T, Pfister SM, Jones DTW, Kopp-Schneider A, Witt O.
INFORM2 NivEnt: The first trial of the INFORM2 biomarker driven phase I/II trial series: the combination of nivolumab and entinostat in children and adolescents with refractory high-risk malignancies.
BMC Cancer. 2020 Jun 5;20(1):523. doi: 10.1186/s12885-020-07008-8.
PMID: 32503469

Sommerkamp AC, Uhrig S, Stichel D, St-Onge P, Sun P, Jäger N, von Deimling A, Sahm F, Pfister SM, Korshunov A, Sinnett D, Jabado N, Wefers AK, Jones DTW.
An optimized workflow to improve reliability of detection of KIAA1549:BRAF fusions from RNA sequencing data.
Acta Neuropathol. 2020 May 31. doi: 10.1007/s00401-020-02167-1. [Epub ahead of print]
PMID: 32476062

Usta D, Sigaud R, Buhl JL, Selt F, Marquardt V, Pauck D, Jansen J, Pusch S, Ecker J, Hielscher T, Vollmer J, Sommerkamp AC, Rubner T, Hargrave D, van Tilburg CM, Pfister SM, Jones DTW, Remke M, Brummer T, Witt O, Milde T.
A cell-based MAPK reporter assay reveals synergistic MAPK pathway activity suppression by MAPK inhibitor combination in BRAF-driven pediatric low-grade glioma cells.
Mol Cancer Ther. 2020 May 25. doi: 10.1158/1535-7163.MCT-19-1021. [Epub ahead of print]
PMID: 32451331

Waszak SM, Robinson GW, Gudenas BL, Smith KS, Forget A, Kojic M, Garcia-Lopez J, Hadley J, Hamilton KV, Indersie E, Buchhalter I, Kerssemakers J, Jäger N, Sharma T, Rausch T, Kool M, Sturm D, Jones DTW, Vasilyeva A, Tatevossian RG, Neale G, Lombard B, Loew D, Nakitandwe J, Rusch M, Bowers DC, Bendel A, Partap S, Chintagumpala M, Crawford J, Gottardo NG, Smith A, Dufour C, Rutkowski S, Eggen T, Wesenberg F, Kjaerheim K, Feychting M, Lannering B, Schüz J, Johansen C, Andersen TV, Röösli M, Kuehni CE, Grotzer M, Remke M, Puget S, Pajtler KW, Milde T, Witt O, Ryzhova M, Korshunov A, Orr BA, Ellison DW, Brugieres L, Lichter P, Nichols KE, Gajjar A, Wainwright BJ, Ayrault O, Korbel JO, Northcott PA, Pfister SM.
Germline Elongator mutations in Sonic Hedgehog medulloblastoma.
Nature. 2020 Apr;580(7803):396-401. doi: 10.1038/s41586-020-2164-5. Epub 2020 Apr 1.
PMID: 32296180

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, Schuller 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 JK, 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, Popovic 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 TE, 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.
Cancer Discov. 2020 Apr 1. pii: CD-19-1030. doi: 10.1158/2159-8290.CD-19-1030. [Epub ahead of print]
PMID: 32238360

Schubert NA, Lowery CD, Bergthold G, Koster J, Eleveld TF, Rodríguez A, Jones DTW, Vassal G, Stancato LF, Pfister SM, Caron HN, Molenaar JJ.
Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers.
Eur J Cancer. 2020 Mar 27;130:168-181. doi: 10.1016/j.ejca.2020.01.027. [Epub ahead of print]
PMID: 32224415

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.
Acta Neuropathol. 2020 Mar 19. doi: 10.1007/s00401-020-02142-w. [Epub ahead of print]
PMID: 32193787

Packer RJ, Iavarone A, Jones DTW, Blakeley JO, Bouffet E, Fisher MJ, Hwang E, Hawkins C, Kilburn L, MacDonald T, Pfister SM, Rood B, Rodriguez FJ, Tabori U, Ramaswamy V, Zhu Y, Fangusaro J, Johnston SA, Gutmann DH.
Implications of New Understandings of Gliomas in Children and Adults with NF1: Report of a Consensus Conference.
Neuro Oncol. 2020 Feb 14. pii: noaa036. doi: 10.1093/neuonc/noaa036. [Epub ahead of print]
PMID: 32055852

Aichmüller CF, Iskar M, Jones DTW, Korshunov A, Radlwimmer B, Kool M, Ernst A, Pfister SM, Lichter P, Zapatka M.
Pilocytic Astrocytoma demethylation and transcriptional landscapes link bZIP transcription factors to immune response.
Neuro Oncol. 2020 Feb 13. pii: noaa035. doi: 10.1093/neuonc/noaa035. [Epub ahead of print]
PMID: 32052037

Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M; PCAWG-Structural Variation Working Group, Brors B, Rippe K, Jones DTW, Feuerbach L; PCAWG Consortium.
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Nat Commun. 2020 Feb 5;11(1):733. doi: 10.1038/s41467-019-13824-9.
PMID: 32024817

ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium.
Pan-cancer analysis of whole genomes.
Nature. 2020 Feb;578(7793):82-93. doi: 10.1038/s41586-020-1969-6. Epub 2020 Feb 5.
PMID: 32025007

Maros ME, Capper D, Jones DTW, Hovestadt V, von Deimling A, Pfister SM, Benner A, Zucknick M, Sill M.
Machine learning workflows to estimate class probabilities for precision cancer diagnostics on DNA methylation microarray data.
Nat Protoc. 2020 Jan 13. doi: 10.1038/s41596-019-0251-6. [Epub ahead of print]
PMID: 31932775

 

Publications 2019

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, Łastowska 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.
Nature. 2019 Dec 4. doi: 10.1038/s41586-019-1815-x.
PMID: 31802000

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.
Neuropathol Appl Neurobiol. 2019 Dec 23. doi: 10.1111/nan.12590.
PMID: 31867747

Jones DTW, Bandopadhayay P, Jabado N.
The Power of Human Cancer Genetics as Revealed by Low-Grade Gliomas.
Annu Rev Genet. 2019 Dec 3;53:483-503. doi: 10.1146/annurev-genet-120417-031642. [Review]
PMID: 31794268

Pickles JC, Fairchild AR, Stone TJ, Brownlee L, Merve A, Yasin SA, Avery A, Ahmed SW, Ogunbiyi O, Gonzalez Zapata J, Peary AF, Edwards M, Wilkhu L, Dryden C, Ladon D, Kristiansen M, Rowe C, Kurian KM, Nicoll JAR, Mitchell C, Bloom T, Hilton DA, Al-Sarraj S, Doey L, Johns PN, Bridges LR, Chakrabarty A, Ismail A, Rathi N, Syed K, Lammie GA, Limback-Stanic C, Smith C, Torgersen A, Rae F, Hill RM, Clifford SC, Grabovska Y, Williamson D, Clarke M, Jones C, Capper D, Sill M, von Deimling A, Pfister SM, Jones DTW, Hargrave D, Chalker J, Jacques TS.
DNA methylation-based profiling for paediatric CNS tumour diagnosis and treatment: a population-based study.
Lancet Child Adolesc Health. 2019 Nov 27. pii: S2352-4642(19)30342-6. doi: 10.1016/S2352-4642(19)30342-6.
PMID: 31786093

Pfaff E, Aichmüller C, Sill M, Stichel D, Snuderl M, Karajannis MA, Schuhmann MU, Schittenhelm J, Hasselblatt M, Thomas C, Korshunov A, Rhizova M, Wittmann A, Kaufhold A, Iskar M, Ketteler P, Lohmann D, Orr BA, Ellison DW, von Hoff K, Mynarek M, Rutkowski S, Sahm F, von Deimling A, Lichter P, Kool M, Zapatka M, Pfister SM, Jones DTW.
Molecular subgrouping of primary pineal parenchymal tumors reveals distinct subtypes correlated with clinical parameters and genetic alterations.
Acta Neuropathol. 2019 Nov 25. doi: 10.1007/s00401-019-02101-0.
PMID: 31768671

Sievers P, Schrimpf D, Stichel D, Reuss DE, Hasselblatt M, Hagel C, Staszewski O, Hench J, Frank S, Brandner S, Korshunov A, Wick W, Pfister SM, Reifenberger G, von Deimling A, Sahm F, Jones DTW.
Posterior fossa pilocytic astrocytomas with oligodendroglial features show frequent FGFR1 activation via fusion or mutation.
Acta Neuropathol. 2019 Nov 15. doi: 10.1007/s00401-019-02097-7. .
PMID: 31729570

Braczynski AK, Capper D, Jones DTW, Schittenhelm J, Stichel D, von Deimling A, Harter PN, Mittelbronn M.
High density DNA methylation array is a reliable alternative for PCR-based analysis of the MGMT promoter methylation status in glioblastoma.
Pathol Res Pract. 2019 Nov 11:152728. doi: 10.1016/j.prp.2019.152728.
PMID: 31784096

Korshunov A, Okonechnikov K, Sahm F, Ryzhova M, Stichel D, Schrimpf D, Ghasemi DR, Pajtler KW, Antonelli M, Donofrio V, Mastronuzzi A, Rossi S, Camassei FD, Buccoliero AM, Haberler C, Slavc I, Dahiya S, Casalini B, Sievers P, Meyer J, Kumirova E, Zheludkova O, Golanov A, Jones DTW, Pfister SM, Kool M, von Deimling A.
Transcriptional profiling of medulloblastoma with extensive nodularity (MBEN) reveals two clinically relevant tumor subsets with VSNL1 as potent prognostic marker.
Acta Neuropathol. 2019 Nov 28. doi: 10.1007/s00401-019-02102-z.
PMID: 31781912

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.
Acta Neuropathol. 2019 Nov 16. doi: 10.1007/s00401-019-02095-9. .
PMID: 31734728

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.
Acta Neuropathol Commun. 2019 Oct 28;7(1):163. doi: 10.1186/s40478-019-0801-8.
PMID: 31661039

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.
Acta Neuropathol. 2019 Sep 28. doi: 10.1007/s00401-019-02078-w.
PMID: 31563982

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.
Acta Neuropathol. 2019 Sep;138(3):497-504. doi: 10.1007/s00401-019-02038-4. Epub 2019 Jun 27.
PMID: 31250151

Jones DTW, Banito A, Grünewald TGP, Haber M, Jäger N, Kool M, Milde T, Molenaar JJ, Nabbi A, Pugh TJ, Schleiermacher G, Smith MA, Westermann F, Pfister SM.
Molecular characteristics and therapeutic vulnerabilities across paediatric solid tumours.
Nat Rev Cancer. 2019 Aug;19(8):420-438. doi: 10.1038/s41568-019-0169-x. Epub 2019 Jul 12. Review.
PMID: 31300807

Jour G, Serrano J, Koelsche C, Jones DTW, von Deimling A, Allen J, Snuderl M.
Primary CNS Alveolar Rhabdomyosarcoma: Importance of Epigenetic and Transcriptomic Assays for Accurate Diagnosis.
J Neuropathol Exp Neurol. 2019 Aug 14. pii: nlz083. doi: 10.1093/jnen/nlz083.
PMID: 31553442

Pajtler KW, Wei Y, Okonechnikov K, Silva PBG, Vouri M, Zhang L, Brabetz S, Sieber L, Gulley M, Mauermann M, Wedig T, Mack N, Imamura Kawasawa Y, Sharma T, Zuckermann M, Andreiuolo F, Holland E, Maass K, Körkel-Qu H, Liu HK, Sahm F, Capper D, Bunt J, Richards LJ, Jones DTW, Korshunov A, Chavez L, Lichter P, Hoshino M, Pfister SM, Kool M, Li W, Kawauchi D.
YAP1 subgroup supratentorial ependymoma requires TEAD and nuclear factor I-mediated transcriptional programmes for tumorigenesis.
Nat Commun. 2019 Sep 2;10(1):3914. doi: 10.1038/s41467-019-11884-5.
PMID: 31477715

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.
Acta Neuropathol. 2019 Aug 14. doi: 10.1007/s00401-019-02056-2.
PMID: 31414211

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.
Acta Neuropathol. 2019 Jul 5. doi: 10.1007/s00401-019-02039-3.
PMID: 31278449

Pfaff E, El Damaty A, Balasubramanian GP, Blattner-Johnson M, Worst BC, Stark S, Witt H, Pajtler KW, van Tilburg CM, Witt R, Milde T, Jakobs M, Fiesel P, Frühwald MC, Hernáiz Driever P, Thomale UW, Schuhmann MU, Metzler M, Bochennek K, Simon T, Dürken M, Karremann M, Knirsch S, Ebinger M, von Bueren AO, Pietsch T, Herold-Mende C, Reuss DE, Kiening K, Lichter P, Eggert A, Kramm CM, Pfister SM, Jones DTW, Bächli H, Witt O.
Brainstem biopsy in pediatric diffuse intrinsic pontine glioma in the era of precision medicine: the INFORM study experience.
Eur J Cancer. 2019 Jun;114:27-35. doi: 10.1016/j.ejca.2019.03.019. Epub 2019 Apr 22.
PMID: 31022591

Fangusaro J, Onar-Thomas A, Young Poussaint T, Wu S, Ligon AH, Lindeman N, Banerjee A, Packer RJ, Kilburn LB, Goldman S, Pollack IF, Qaddoumi I, Jakacki RI, Fisher PG, Dhall G, Baxter P, Kreissman SG, Stewart CF, Jones DTW, Pfister SM, Vezina G, Stern JS, Panigrahy A, Patay Z, Tamrazi B, Jones JY, Haque SS, Enterline DS, Cha S, Fisher MJ, Doyle LA, Smith M, Dunkel IJ, Fouladi M.
Selumetinib in paediatric patients with BRAF-aberrant or neurofibromatosis type 1-associated recurrent, refractory, or progressive low-grade glioma: a multicentre, phase 2 trial.
Lancet Oncol. 2019 May 28. pii: S1470-2045(19)30277-3. doi: 10.1016/S1470-2045(19)30277-3.
PMID: 31151904

Feuerbach L, Sieverling L, Deeg KI, Ginsbach P, Hutter B, Buchhalter I, Northcott PA, Mughal SS, Chudasama P, Glimm H, Scholl C, Lichter P, Fröhling S, Pfister SM, Jones DTW, Rippe K, Brors B.
TelomereHunter - in silico estimation of telomere content and composition from cancer genomes.
BMC Bioinformatics. 2019 May 28;20(1):272. doi: 10.1186/s12859-019-2851-0.
PMID: 31138115

Paramasivam N, Hübschmann D, Toprak UH, Ishaque N, Neidert M, Schrimpf D, Stichel D, Reuss D, Sievers P, Reinhardt A, Wefers AK, Jones DTW, Gu Z, Werner J, Uhrig S, Wirsching HG, Schick M, Bewerunge-Hudler M, Beck K, Brehmer S, Urbschat S, Seiz-Rosenhagen M, Hänggi D, Herold-Mende C, Ketter R, Eils R, Ram Z, Pfister SM, Wick W, Weller M, Grossmann R, von Deimling A, Schlesner M, Sahm F.
Mutational patterns and regulatory networks in epigenetic subgroups of meningioma.
Acta Neuropathol. 2019 May 8. doi: 10.1007/s00401-019-02008-w.
PMID: 31069492

Korshunov A, Okonechnikov K, Sahm F, Ryzhova M, Stichel D, Sievers P, Meyer J, Schrimpf D, Zheludkova O, Golanov A, Lichter P, Jones DTW, Pfister SM, von Deimling A, Kool M.
Molecular progression of SHH-activated medulloblastomas.
Acta Neuropathol. 2019 Apr 27. doi: 10.1007/s00401-019-02022-y. No abstract available.
PMID: 31030238

Schramm K, Iskar M, Statz B, Jäger N, Haag D, Słabicki M, Pfister SM, Zapatka M, Gronych J, Jones DTW*, Lichter P*.
DECIPHER pooled shRNA library screen identifies PP2A and FGFR signaling as potential therapeutic targets for DIPGs.
Neuro Oncol. 2019 Apr 3. pii: noz057. doi: 10.1093/neuonc/noz057.
PMID: 30943283

Binder H, Willscher E, Loeffler-Wirth H, Hopp L, Jones DTW, Pfister SM, Kreuz M, Gramatzki D, Fortenbacher E, Hentschel B, Tatagiba M, Herrlinger U, Vatter H, Matschke J, Westphal M, Krex D, Schackert G, Tonn JC, Schlegel U, Steiger HJ, Wick W, Weber RG, Weller M, Loeffler M.
DNA methylation, transcriptome and genetic copy number signatures of diffuse cerebral WHO grade II/III gliomas resolve cancer heterogeneity and development.
Acta Neuropathol Commun. 2019 Apr 25;7(1):59. doi: 10.1186/s40478-019-0704-8.
PMID: 31023364

Körber V, Yang J, Barah P, Wu Y, Stichel D, Gu Z, Fletcher MNC, Jones D, Hentschel B, Lamszus K, Tonn JC, Schackert G, Sabel M, Felsberg J, Zacher A, Kaulich K, Hübschmann D, Herold-Mende C, von Deimling A, Weller M, Radlwimmer B, Schlesner M, Reifenberger G, Höfer T, Lichter P.
Evolutionary Trajectories of IDHWT Glioblastomas Reveal a Common Path of Early Tumorigenesis Instigated Years ahead of Initial Diagnosis.
Cancer Cell. 2019 Mar 5. pii: S1535-6108(19)30102-3. doi: 10.1016/j.ccell.2019.02.007.
PMID: 30905762

Koelsche C, Kriegsmann M, Kommoss FKF, Stichel D, Kriegsmann K, Vokuhl C, Grünewald TGP, Romero-Pérez L, Kirchner T, de Alava E, Diaz-Martin J, Hartmann W, Baumhoer D, Antonescu CR, Szuhai K, Flucke U, Dirksen U, Pfister SM, Jones DTW, Mechtersheimer G, von Deimling A.
DNA methylation profiling distinguishes Ewing-like sarcoma with EWSR1-NFATc2 fusion from Ewing sarcoma.
J Cancer Res Clin Oncol. 2019 Mar 20. doi: 10.1007/s00432-019-02895-2.
PMID: 30895378

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.
Acta Neuropathol. 2019 Mar 8. doi: 10.1007/s00401-019-01987-0. No abstract available.
PMID: 30848347

Korshunov A, Sahm F, Okonechnikov K, Ryzhova M, Stichel D, Schrimpf D, Casalini B, Sievers P, Meyer J, Zheludkova O, Golanov A, Lichter P, Jones DTW, Pfister SM, Kool M, von Deimling A.
Desmoplastic/nodular medulloblastomas (DNMB) and medulloblastomas with extensive nodularity (MBEN) disclose similar epigenetic signatures but different transcriptional profiles.
Acta Neuropathol. 2019 Mar 2. doi: 10.1007/s00401-019-01981-6.
PMID: 30826918

Jaunmuktane Z, Capper D, Jones DTW, Schrimpf D, Sill M, Dutt M, Suraweera N, Pfister SM, von Deimling A, Brandner S.
Methylation array profiling of adult brain tumours: diagnostic outcomes in a large, single centre.
Acta Neuropathol Commun. 2019 Feb 20;7(1):24. doi: 10.1186/s40478-019-0668-8.
PMID: 30786920

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.
Acta Neuropathol. 2019 Feb 13. doi: 10.1007/s00401-019-01969-2.
PMID: 30759284

Aldape K, Brindle KM, Chesler L, Chopra R, Gajjar A, Gilbert MR, Gottardo N, Gutmann DH, Hargrave D, Holland EC, Jones DTW, Joyce JA, Kearns P, Kieran MW, Mellinghoff IK, Merchant M, Pfister SM, Pollard SM, Ramaswamy V, Rich JN, Robinson GW, Rowitch DH, Sampson JH, Taylor MD, Workman P, Gilbertson RJ.
Challenges to curing primary brain tumours.
Nat Rev Clin Oncol. 2019 Feb 7. doi: 10.1038/s41571-019-0177-5. Review.
PMID: 30733593

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.
Acta Neuropathol. 2019 Jan 16. doi: 10.1007/s00401-019-01960-x. .
PMID: 30649606

Erkek S, Johann PD, Finetti MA, Drosos Y, Chou HC, Zapatka M, Sturm D, Jones DTW, Korshunov A, Rhyzova M, Wolf S, Mallm JP, Beck K, Witt O, Kulozik AE, Frühwald MC, Northcott PA, Korbel JO, Lichter P, Eils R, Gajjar A, Roberts CWM, Williamson D, Hasselblatt M, Chavez L, Pfister SM, Kool M.
Comprehensive Analysis of Chromatin States in Atypical Teratoid/Rhabdoid Tumor Identifies Diverging Roles for SWI/SNF and Polycomb in Gene Regulation.
Cancer Cell. 2019 Jan 14;35(1):95-110.e8. doi: 10.1016/j.ccell.2018.11.014. Epub 2018 Dec 27.
PMID: 30595504

Selected Additional Publications

Buhl JL, Selt F, Hielscher T, Guiho R, Ecker J, Sahm F, Ridinger J, Riehl D, Usta D, Ismer B, Sommerkamp AC, Martinez-Babera JP, Wefers AK, Remke M, Picard D, Pusch S, Gronych J, Oehme I, van Tilburg CM, Kool M, Kuhn D, Capper D, von Deimling A, Schuhmann M, Herold-Mende C, Korshunov A, Brummer T, Pfister SM, Jones DTW, Witt O, Milde T.
The senescence-associated secretory phenotype mediates oncogene-induced senescence in pediatric pilocytic astrocytoma.
Clin Cancer Res. 2018 Dec 7. pii: clincanres.1965.2018. doi: 10.1158/1078-0432.CCR-18-1965.
PMID: 30530705

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.
Nature. 2018 Mar 22;555(7697):469-474. doi: 10.1038/nature26000. Epub 2018 Mar 14.
PMID: 29539639

Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM.
The landscape of genomic alterations across childhood cancers.
Nature. 2018 Mar 15;555(7696):321-327. doi: 10.1038/nature25480. Epub 2018 Feb 28.
PMID: 29489754

Mackay A, Burford A, Carvalho D, Izquierdo E, Fazal-Salom J, Taylor KR, Bjerke L, Clarke M, Vinci M, Nandhabalan M, Temelso S, Popov S, Molinari V, Raman P, Waanders AJ, Han HJ, Gupta S, Marshall L, Zacharoulis S, Vaidya S, Mandeville HC, Bridges LR, Martin AJ, Al-Sarraj S, Chandler C, Ng HK, Li X, Mu K, Trabelsi S, Brahim DH, Kisljakov AN, Konovalov DM, Moore AS, Carcaboso AM, Sunol M, de Torres C, Cruz O, Mora J, Shats LI, Stavale JN, Bidinotto LT, Reis RM, Entz-Werle N, Farrell M, Cryan J, Crimmins D, Caird J, Pears J, Monje M, Debily MA, Castel D, Grill J, Hawkins C, Nikbakht H, Jabado N, Baker SJ, Pfister SM, Jones DTW, Fouladi M, von Bueren AO, Baudis M, Resnick A, Jones C.
Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma.
Cancer Cell. 2017 Oct 9;32(4):520-537.e5. doi: 10.1016/j.ccell.2017.08.017. Epub 2017 Sep 28.
PMID: 28966033

Sturm D, Pfister SM, Jones DTW.
Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management.
J Clin Oncol. 2017 Jun 22:JCO2017730242. doi: 10.1200/JCO.2017.73.0242. [Review]
PMID: 28640698

Bender S, Gronych J, Warnatz H-J, Hutter B, Gröbner S, Rhyzova M, Pfaff E, Hovestadt V, Weinberg F, Halbach S, Kool M, Northcott PA, Sturm D, Bjerke L, Zichner T, Stütz A, Schramm K, Huang B, Buchhalter I, Heinold M, Risch T, Worst BC, van Tilburg C, Weber UD, Zapatka M, Raeder B, Milford D, Heiland S, von Kalle C, Previti C, Lawerenz C, Kulozik AE, Unterberg A, Witt O, von Deimling A, Capper D, Truffaux N, Grill J, Jabado N, Sehested AM, Sumerauer D, Brahim DHB, Trabelsi S, Ng HK, Zagzag D, Allen JC, Karajannis MA, Gottardo NG, Jones C, Korbel O, Schmidt S, Wolf S, Reifenberger G, Felsberg J, Brors B, Herold-Mende C, Lehrach H, Brummer T, Korshunov A, Eils R, Yaspo ML, Pfister SM*, Lichter P*, Jones DTW*
Recurrent MET fusion genes represent a druggable target in paediatric glioblastoma.
Nat Med. 2016 Nov;22(11):1314-1320
PMID: 27748748

Worst BC, van Tilburg CM, Balasubramanian GP, Fiesel P, Witt R, Freitag A, Boudalil M, Previti C, Wolf S, Schmidt S, Chotewutmontri S, Bewerunge-Hudler M, Schick M, Schlesner M, Hutter B, Taylor L, Borst T, Sutter C, Bartram CR, Milde T, Pfaff E, Kulozik AE, von Stackelberg A, Meisel R, Borkhardt A, Reinhardt D, Klusmann J, Fleischhack G, Tippelt S, Dirksen U, Jürgens H, Kramm CM, Von Bueren AO, Westermann F, Fischer M, Burkhardt B, Wößmann W, Nathrath M, Bielack SS, Frühwald MC, Fulda S, Klingebiel T, Koscielniak E, Schwab M, Tremmel R, Hernaiz Driever P, Schulte JH, Brors B, Von Deimling A, Lichter P, Eggert A, Capper D, Pfister SM*, Jones DTW* and Witt O*
Next-generation personalized medicine for high-risk pediatric cancer patients – the INFORM pilot study.
Eur J Cancer. 2016 Jul 28;65:91-101. doi: 10.1016/j.ejca.2016.06.009.
PMID: 27479119

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, Łastowska 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.
Cell. 2016 Feb 25;164(5):1060-72.
PMID: 26919435

Northcott PA, Lee C, Zichner T, Stütz AM, Erkek S, Kawauchi D, Shih DJ, Hovestadt V, Zapatka M, Sturm D, Jones DTW, Kool M, Remke M, Cavalli FM, Zuyderduyn S, Bader GD, VandenBerg S, Esparza LA, Ryzhova M, Wang W, Wittmann A, Stark S, Sieber L, Seker-Cin H, Linke L, Kratochwil F, Jäger N, Buchhalter I, Imbusch CD, Zipprich G, Raeder B, Schmidt S, Diessl N, Wolf S, Wiemann S, Brors B, Lawerenz C, Eils J, Warnatz HJ, Risch T, Yaspo ML, Weber UD, Bartholomae CC, von Kalle C, Turányi E, Hauser P, Sanden E, Darabi A, Siesjö P, Sterba J, Zitterbart K, Sumerauer D, van Sluis P, Versteeg R, Volckmann R, Koster J, Schuhmann MU, Ebinger M, Grimes HL, Robinson GW, Gajjar A, Mynarek M, von Hoff K, Rutkowski S, Pietsch T, Scheurlen W, Felsberg J, Reifenberger G, Kulozik AE, von Deimling A, Witt O, Eils R, Gilbertson RJ, Korshunov A, Taylor MD, Lichter P, Korbel JO, Wechsler-Reya RJ, Pfister SM.
Enhancer hijacking activates GFI1 family oncogenes in medulloblastoma.
Nature. 2014 Jul 24;511(7510):428-34
PMID: 25043047

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, and Lichter P
Decoding the regulatory landscape of medulloblastoma using DNA methylation sequencing.
Nature 2014 Jun 26;510(7506):537-41
PMID: 24847876

Bender S, Tang Y, Lindroth AM, Hovestadt V, Jones DTW, Kool M, Zapatka M, Northcott PA, Sturm D, Wang W, Radlwimmer B, Højfeldt JW, Truffaux N, Castel D, Schubert S, Ryzhova M, Seker-Cin H, Gronych J, Johann PD, Stark S, Meyer J, Milde T, Schuhmann M, Ebinger M, Monoranu CM, Ponnuswami A, Chen S, Jones C, Witt O, Collins VP, von Deimling A, Jabado N, Puget S, Grill J, Helin K, Korshunov A, Lichter P, Monje M, Plass C, Cho YJ, Pfister SM.
Reduced H3K27me3 and DNA Hypomethylation Are Major Drivers of Gene Expression in K27M Mutant Pediatric High-Grade Gliomas.
Cancer Cell 2013 Nov 11;24(5):660-72
PMID: 24183680

Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, Bignell GR, Bolli N, Borg A, Børresen-Dale AL, Boyault S, Burkhardt B, Butler AP, Caldas C, Davies HR, Desmedt C, Eils R, Eyfjörd JE, Foekens JA, Greaves M, Hosoda F, Hutter B, Ilicic T, Imbeaud S, Imielinsk M, Jäger N, Jones DTW, Jones D, Knappskog S, Kool M, Lakhani SR, López-Otín C, Martin S, Munshi NC, Nakamura H, Northcott PA, Pajic M, Papaemmanuil E, Paradiso A, Pearson JV, Puente XS, Raine K, Ramakrishna M, Richardson AL, Richter J, Rosenstiel P, Schlesner M, Schumacher TN, Span PN, Teague JW, Totoki Y, Tutt AN, Valdés-Mas R, van Buuren MM, van 't Veer L, Vincent-Salomon A, Waddell N, Yates LR; Australian Pancreatic Cancer Genome Initiative; ICGC Breast Cancer Consortium; ICGC MMML-Seq Consortium; ICGC PedBrain, Zucman-Rossi J, Andrew Futreal P, McDermott U, Lichter P, Meyerson M, Grimmond SM, Siebert R, Campo E, Shibata T, Pfister SM, Campbell PJ, Stratton MR
Signatures of mutational processes in human cancer.
Nature 2013 Aug 22;500(7463):415-21
PMID: 23945592

Jones DTW*, Jäger N*, Kool M, Zichner T, Hutter B, Sultan M, Cho Y-J, Pugh TJ, Hovestadt V, Stütz AM, Rausch T, Warnatz H-J, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke R, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schüller U, Hans V, Graf N, Kim Y-J, Monaranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rössler J, Ebinger M, Schuhmann MU, Frühwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo M-L, Korbel JO, Korshunov A, Eils R, Pfister SM & Lichter P
Dissecting the Genomic Complexity Underlying Medulloblastoma.
Nature 2012 Aug 2;488(7409):100-5
PMID: 22832583

Schwartzentruber J*, Korshunov A*, Liu XY*, Jones DTW, Pfaff E, Jacob K, Sturm D, Fontebasso AM, Khuong Quang DA, Tönjes M, Hovestadt V, Albrecht S, Kool M, Nantel A, Konermann C, Lindroth A, Jäger N, Rausch T, Rizhova M, Korbel JO, Hielscher T, Hauser P, Garami M, Klekner A, Bognar L, Ebinger M, Schuhmann MU, Scheurlen W, Frühwald MC, Roggendorf W, Kramm C, Dürken M, Atkinson J, Lepage P, Montpetit A, Zakrzewska M, Zakrzewski K, Liberski PP, Dong Z, Siegel P, Kulozik AE, Zapatka M, Guha A, Malkin D, Felsberg J, Reifenberger G, von Deimling A, Ichimura K, Collins VP, Witt H, Milde T, Witt O, Zhang C, Castelo-Branco P, Lichter P, Faury D, Tabori U, Plass C, Majewski J, Pfister SM, Jabado N
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
Nature 2012 Jan 29;482(7384):226-31
PMID: 22286061

Rausch T*, Jones DTW*, Zapatka M*, Stütz AM*, Zichner T, Weischenfeldt J, Jäger N, Remke M, Shih D, Northcott PA, Pfaff E, Tica J, Wang Q, Massimi L, Witt H, Bender S, Pleier S, Cin H, Hawkins C, Beck C, von Deimling A, Hans V, Brors B, Eils R, Scheurlen W, Blake J, Benes V, Kulozik AE, Witt O, Martin D, Zhang C, Porat R, Merino D, Wasserman J, Jabado N, Fontebasso A, Bullinger L, Rücker F, Döhner K, Döhner H, Koster J, Molenaar JJ, Versteeg R, Kool M, Tabori U, Malkin D, Korshunov A, Taylor MD, Lichter P, Pfister SM & Korbel JO
Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations.
Cell 2012 Jan 20;148(1-2):59-71
PMID: 22265402

Jones DTW, Kocialkowski S, Liu L, Pearson DM, Bäcklund LM, Ichimura K & Collins VP
Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.
Cancer Res 2008 Nov;68(21):8673-8677
PMID: 18974108

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