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
von Maximilian von Laffert ; Peter Schirmacher ; Arne Warth ; Wilko Weichert ; Reinhard Büttner ; R. M. Huber ; J. Wolf ; Frank Griesinger ; Manfred Dietel ; C. Grohé
von Maximilian von Laffert ; Peter Schirmacher ; Arne Warth ; Wilko Weichert ; Reinhard Büttner ; R. M. Huber ; Jürgen Wolf ; Frank Griesinger ; Manfred Dietel ; Christian Grohé
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