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DNA methylation-based classification of central nervous system tumours
Nature ( IF 50.5 ) Pub Date : 2018-03-14 , DOI: 10.1038/nature26000
David Capper 1, 2, 3, 4 , David T W Jones 5, 6 , Martin Sill 5, 6, 7 , Volker Hovestadt 8 , Daniel Schrimpf 1, 2 , Dominik Sturm 5, 6, 9 , Christian Koelsche 1, 2 , Felix Sahm 1, 2 , Lukas Chavez 5, 6 , David E Reuss 1, 2 , Annekathrin Kratz 1, 2 , Annika K Wefers 1, 2 , Kristin Huang 1, 2 , Kristian W Pajtler 5, 6, 9 , Leonille Schweizer 1, 3 , Damian Stichel 1, 2 , Adriana Olar 10, 11, 12 , Nils W Engel 13, 14 , Kerstin Lindenberg 2 , Patrick N Harter 15, 16 , Anne K Braczynski 15, 16 , Karl H Plate 15, 16 , Hildegard Dohmen 17 , Boyan K Garvalov 17 , Roland Coras 18 , Annett Hölsken 18 , Ekkehard Hewer 19 , Melanie Bewerunge-Hudler 20 , Matthias Schick 20 , Roger Fischer 20 , Rudi Beschorner 21 , Jens Schittenhelm 21 , Ori Staszewski 22 , Khalida Wani 23 , Pascale Varlet 24 , Melanie Pages 24 , Petra Temming 25 , Dietmar Lohmann 26 , Florian Selt 5, 9, 27 , Hendrik Witt 5, 6, 9 , Till Milde 5, 9, 27 , Olaf Witt 5, 9, 27 , Eleonora Aronica 28, 29, 30 , Felice Giangaspero 31, 32 , Elisabeth Rushing 33 , Wolfram Scheurlen 34 , Christoph Geisenberger 35, 36 , Fausto J Rodriguez 37 , Albert Becker 38 , Matthias Preusser 39 , Christine Haberler 40 , Rolf Bjerkvig 41, 42 , Jane Cryan 43 , Michael Farrell 43 , Martina Deckert 44 , Jürgen Hench 45 , Stephan Frank 45 , Jonathan Serrano 46 , Kasthuri Kannan 46 , Aristotelis Tsirigos 46 , Wolfgang Brück 47 , Silvia Hofer 48 , Stefanie Brehmer 49 , Marcel Seiz-Rosenhagen 49 , Daniel Hänggi 49 , Volkmar Hans 50, 51 , Stephanie Rozsnoki 52 , Jordan R Hansford 53, 54, 55 , Patricia Kohlhof 56 , Bjarne W Kristensen 57 , Matt Lechner 58 , Beatriz Lopes 59 , Christian Mawrin 60 , Ralf Ketter 61 , Andreas Kulozik 5, 9 , Ziad Khatib 62 , Frank Heppner 3, 63, 64 , Arend Koch 3 , Anne Jouvet 65 , Catherine Keohane 66 , Helmut Mühleisen 67 , Wolf Mueller 68 , Ute Pohl 69 , Marco Prinz 22, 70 , Axel Benner 7 , Marc Zapatka 8 , Nicholas G Gottardo 71, 72, 73 , Pablo Hernáiz Driever 74 , Christof M Kramm 75 , Hermann L Müller 76 , Stefan Rutkowski 77 , Katja von Hoff 74, 77 , Michael C Frühwald 78 , Astrid Gnekow 78 , Gudrun Fleischhack 25 , Stephan Tippelt 25 , Gabriele Calaminus 79 , Camelia-Maria Monoranu 80 , Arie Perry 81 , Chris Jones 82 , Thomas S Jacques 83 , Bernhard Radlwimmer 8 , Marco Gessi 38 , Torsten Pietsch 38 , Johannes Schramm 84 , Gabriele Schackert 85 , Manfred Westphal 86 , Guido Reifenberger 87, 88 , Pieter Wesseling 89, 90 , Michael Weller 91 , Vincent Peter Collins 92 , Ingmar Blümcke 18 , Martin Bendszus 93 , Jürgen Debus 94 , Annie Huang 95 , Nada Jabado 96 , Paul A Northcott 97 , Werner Paulus 52 , Amar Gajjar 98 , Giles W Robinson 98 , Michael D Taylor 99 , Zane Jaunmuktane 100, 101, 102 , Marina Ryzhova 103 , Michael Platten 104 , Andreas Unterberg 35 , Wolfgang Wick 105 , Matthias A Karajannis 106 , Michel Mittelbronn 15, 16, 107, 108, 109, 110 , Till Acker 17 , Christian Hartmann 111 , Kenneth Aldape 112 , Ulrich Schüller 14, 113, 114, 115 , Rolf Buslei 18, 116 , Peter Lichter 8 , Marcel Kool 5, 6 , Christel Herold-Mende 35 , David W Ellison 117 , Martin Hasselblatt 52 , Matija Snuderl 118 , Sebastian Brandner 100, 102 , Andrey Korshunov 1, 2 , Andreas von Deimling 1, 2 , Stefan M Pfister 5, 6, 9
Affiliation  

Accurate pathological diagnosis is crucial for optimal management of patients with cancer. For the approximately 100 known tumour types of the central nervous system, standardization of the diagnostic process has been shown to be particularly challenging—with substantial inter-observer variability in the histopathological diagnosis of many tumour types. Here we present a comprehensive approach for the DNA methylation-based classification of central nervous system tumours across all entities and age groups, and demonstrate its application in a routine diagnostic setting. We show that the availability of this method may have a substantial impact on diagnostic precision compared to standard methods, resulting in a change of diagnosis in up to 12% of prospective cases. For broader accessibility, we have designed a free online classifier tool, the use of which does not require any additional onsite data processing. Our results provide a blueprint for the generation of machine-learning-based tumour classifiers across other cancer entities, with the potential to fundamentally transform tumour pathology.

中文翻译:


基于 DNA 甲基化的中枢神经系统肿瘤分类



准确的病理诊断对于癌症患者的最佳治疗至关重要。对于大约 100 种已知的中枢神经系统肿瘤类型,诊断过程的标准化已被证明特别具有挑战性——许多肿瘤类型的组织病理学诊断中观察者之间存在显着差异。在这里,我们提出了一种针对所有实体和年龄组的基于 DNA 甲基化的中枢神经系统肿瘤分类的综合方法,并展示了其在常规诊断环境中的应用。我们表明,与标准方法相比,该方法的可用性可能会对诊断精度产生重大影响,导致高达 12% 的预期病例的诊断发生变化。为了更广泛的可访问性,我们设计了一个免费的在线分类器工具,使用该工具不需要任何额外的现场数据处理。我们的结果为跨其他癌症实体生成基于机器学习的肿瘤分类器提供了蓝图,有可能从根本上改变肿瘤病理学。
更新日期:2018-03-14
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