von David Capper ; David T. W. Jones ; Daniel Schrimpf ; Dominik Sturm ; Christian Kölsche ; Felix Sahm ; David Reuss ; Annekathrin Kratz ; Annika K. Wefers ; Kristin Huang ; Kristian Wilfried Pajtler ; Leonille Schweizer ; Damian Stichel ; Florian Selt ; Hendrik Witt ; Till Milde ; Olaf Witt ; Wolfram Scheurlen ; Christoph Geisenberger ; Stefanie Brehmer ; Marcel Seiz-Rosenhagen ; Daniel Hänggi ; Andreas Kulozik ; Axel Benner ; Martin Bendszus ; Jürgen Debus ; Michael Platten ; Andreas Unterberg ; Wolfgang Wick ; Marcel Kool ; Christel Herold-Mende ; Andreas von Deimling ; Stefan Pfister ; Hermann L. Müller
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.
Nature London [u.a.] : Nature Publ. Group, 1869 555(2018), 7697, Seite 469-474 Online-Ressource
Tag der Hydrologie (2017 : Trier) Den Wandel messen Hennef : DWA, Deutsche Vereinigung für Wasserwirtschaft, Abwasser und Abfall e.V., 2017 (2017), Seite 317-326 1 Online-Ressource (382 Seiten)
von Ulrich Herrlinger ; Niklas Schäfer ; Rolf Fimmers ; Frank Griesinger ; Michael Rauch ; Heinz Kirchen ; Patrick Roth ; Martin Glas ; Michael Bamberg ; Peter Martus ; Eckhard Thiel ; Agnieszka Korfel ; Michael Weller
von Maximilian von Laffert ; Peter Schirmacher ; Arne Warth ; W. Weichert ; R. Büttner ; R. M. Huber ; J. Wolf ; Frank Griesinger ; M. Dietel ; C. Grohé
The EML4-ALK pathway plays an important role in a significant subset of non-small cell lung cancer patients. Treatment options such as ALK tyrosine kinase inhibitors lead to improved progression free survival and overall survival. These therapeutic options are chosen on the basis of the identification of the underlying genetic signature of the EML-ALK translocation. Efficient and easily accessible testing tools are required to identify eligible patients in a timely fashion. While FISH techniques are commonly used to detect this translocation, the broad implementation of this type of ALK testing into routine diagnostics is not optimal due to technical, structural and financial reasons. Immunohistochemical techniques to screen for EML4-ALK translocations may therefore play an important role in the near future. This consensus paper provides recommendations for the test algorithm and quality of the respective test approaches, which are discussed in the light of the current literature.
Lung cancer Amsterdam [u.a.] : Elsevier, 1985 103(2017), Seite 1-5 Online-Ressource
First published: 11 August 2016 ; Gesehen am 12.07.2018
ABCA3; Paediatric interstitial lung disease; Surfactant protein
Background: Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort. Methods: We retrospectively analysed baseline and outcome characteristics of 40 patients with two disease-causing ABCA3 mutations collected between 2001 and 2015. Results: Of 22 homozygous (15 male) and 18 compound heterozygous patients (3 male), 37 presented with neonatal respiratory distress syndrome as term babies. At follow-up, two major phenotypes are documented: patients with (1) early lethal mutations subdivided into (1a) dying within the first 6 months or (1b) before the age of 5 years, and (2) patients with prolonged survival into childhood, adolescence or adulthood. Patients with null/null mutations predicting complete ABCA3 deficiency died within the 1st weeks to months of life, while those with null/other or other/other mutations had a more variable presentation and outcome. Treatment with exogenous surfactant, systemic steroids, hydroxychloroquine and whole lung lavages had apparent but many times transient effects in individual subjects. Conclusions: Overall long-term (>5 years) survival of subjects with two disease-causing ABCA3 mutations was <20%. Response to therapies needs to be ascertained in randomised controlled trials.
Thorax London : BMJ Publishing Group, 1946 72(2017), 3, Seite 213-220 Online-Ressource
Seite 6 von 10
