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Article
Open AccessProficiency testing of PIK3CA mutations in HR+/HER2-breast cancer on liquid biopsy and tissue
Precision oncology based on specific molecular alterations requires precise and reliable detection of therapeutic targets in order to initiate the optimal treatment. In many European countries—including German...
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Article
Open AccessGenomic ALK alterations in primary and relapsed neuroblastoma
Genomic alterations of the anaplastic lymphoma kinase gene (ALK) occur recurrently in neuroblastoma, a pediatric malignancy of the sympathetic nervous system. However, information on their development over time h...
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Article
Open AccessZytopathologie und molekulare Diagnostik von nichtkleinzelligen Lungenkarzinomen (NSCLC)
Zytologische Proben aus endobronchialen Aspiraten und Pleuraergüssen sind häufige Materialien in der Diagnostik von nichtkleinzelligen Lungenkarzinomen (NSCLC). Ebenso wie histologische Proben aus endo- und tr...
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Article
Open AccessClonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer
Activation of MAPK signaling via BRAF mutations may limit the activity of EGFR inhibitors in EGFR-mutant lung cancer patients. However, the impact of BRAF mutations on the selection and fitness of emerging resist...
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Article
Open AccessMutational spectrum of acquired resistance to reversible versus irreversible EGFR tyrosine kinase inhibitors
Over the past years, EGFR tyrosine kinase inhibitors (TKI) revolutionized treatment response. 1st-generation (reversible) EGFR TKI and later the 2nd –generation irreversible EGFR TKI Afatinib were aimed to imp...
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Article
Bronchoscopic Brushing from Central Lung Cancer—Next Generation Sequencing Results are Reliable
The role of bronchoscopic brushing for tumor detection and molecular testing in central lung cancer is unclear. In this study, 50 consecutive subjects with suspected central lung cancer underwent bronchoscopic...
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Article
Open AccessOvercoming EGFRG724S-mediated osimertinib resistance through unique binding characteristics of second-generation EGFR inhibitors
The emergence of acquired resistance against targeted drugs remains a major clinical challenge in lung adenocarcinoma patients. In a subgroup of these patients we identified an association between selection of EG...
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Article
Open AccessSomatic alterations in circulating cell-free DNA of oesophageal carcinoma patients during primary staging are indicative for post-surgical tumour recurrence
Oesophageal cancer (OC) has high mortality. This study aims at determining the feasibility of liquid biopsies for genomic profiling in early stage OC, comparing two different technologies for mutational analys...
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Article
EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial
The European Commision (EC) recently approved osimertinib for the treatment of adult patients with locally advanced or metastatic non-small-cell lung cancer (NSCLC) harboring EGFR T790M mutations. Besides tissue-...
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Chapter and Conference Paper
Purification of Circulating Cell-Free DNA from Plasma and Urine Using the Automated Large-Volume Extraction on the QIAsymphony® SP Instrument
Increasing sample numbers for screening and diagnostics using circulating cell-free DNA (ccfDNA) as analyte demands an automated solution for ccfDNA extraction. The efficiency of a new, automated, large volume...
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Article
Open AccessMassively parallel sequencing fails to detect minor resistant subclones in tissue samples prior to tyrosine kinase inhibitor therapy
Personalised medicine and targeted therapy have revolutionised cancer treatment. However, most patients develop drug resistance and relapse after showing an initial treatment response. Two theories have been p...
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Article
Open AccessTuberous-sclerosis complex-related cell signaling in the pathogenesis of lung cancer
Hamartin (TSC1) and tuberin (TSC2), encoded by the tuberous sclerosis complex (TSC) genes, form a tumor-suppressor heterodimer which is implicated in PI3K-Akt signaling and acts as a functional inhibitor of the m...
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Article
Open AccessComparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAFmutations
The approval of vemurafenib in the US 2011 and in Europe 2012 improved the therapy of not resectable or metastatic melanoma. Patients carrying a substitution of valine to glutamic acid at codon 600 (p.V600E) o...
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Article
Open AccessqPCR in gastrointestinal stromal tumors: Evaluation of reference genes and expression analysis of KIT and the alternative receptor tyrosine kinases FLT3, CSF1-R, PDGFRB, MET and AXL
Gastrointestinal stromal tumors (GIST) represent the most common mesenchymal tumors of the gastrointestinal tract. About 85% carry an activating mutation in the KIT or PDGFRA gene. Approximately 10% of GIST are s...
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Article
Mutational and immunohistochemical analysis of ezrin-, radixin-, moesin (ERM) molecules in epilepsy-associated glioneuronal lesions
Glioneuronal lesions are frequently observed in biopsy specimens obtained from patients with pharmacoresistant epilepsies, comprising focal cortical dysplasias (FCD) and gangliogliomas. Recent findings point t...
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Article
Analysis of chromosomal instability in focal cortical dysplasia of Taylor’s balloon cell type
Focal cortical dysplasias (FCD) represent a frequent finding in patients with chronic intractable epilepsy. Neuropathological hallmarks include localized dyslamination of the neocortex and neuronal heterotopia...
