BackgroundThere is an urgent need to identify molecular signatures in small cell lung cancer (SCLC) that may select patients who are likely to respond to molecularly targeted therapies. In this study, we investigate the feasibility of undertaking focused molecular analyses on routine diagnostic biopsies in patients with SCLC.MethodsA series of histopathologically confirmed formalin-fixed, paraffin-embedded SCLC specimens were analysed for epidermal growth factor receptors (EGFR), KRAS, NRAS and BRAF mutations, ALK gene rearrangements and MET amplification. EGFR and KRAS mutation testing was evaluated using real time polymerase chain reaction (RT-PCR cobas®), BRAF and NRAS mutations using multiplex PCR and capillary electrophoresis-single strand conformation analysis, and ALK and MET aberrations with fluorescent in situ hybridization. All genetic aberrations detected were validated independently.ResultsA total of 105 patients diagnosed with SCLC between July 1990 and September 2006 were included. 60 (57 %) patients had suitable tumour tissue for molecular testing. 25 patients were successfully evaluated for all six pre-defined molecular aberrations. Eleven patients failed all molecular analysis. No mutations in EGFR, KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified. A V600E substitution in BRAF was detected in a Caucasian male smoker diagnosed with SCLC with squamoid and glandular features.ConclusionThe paucity of patients with sufficient tumour tissue, quality of DNA extracted and low frequency of aberrations detected indicate that alternative molecular characterisation approaches are necessary, such as the use of circulating plasma DNA in patients with SCLC.

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Background Behçet’s disease (BD) is a systemic vasculitis disorder with multifactorial immunopathogenesis and associated with significant morbidity and mortality. MicroRNAs (miRNAs) are involved in the pathogenesis of inflammatory diseases. MiR-146 and miR-155 are known key regulators of immune response. This study was conducted to determine the expression of miRNA-146a and miRNA-155 in patients with BD and to link their possible association with the clinical manifestations and activity of this disease to evaluate their role as diagnostic or prognostic markers. A total of 60 patients with BD and 25 age- and gender-matched healthy controls were examined in a case-control study from October 2017 to September 2018 for the expression levels of miR-146a and miR-155 using singleplexTaqMan two-step stem loop quantitative reverse transcription real-time polymerase chain reaction (qRT-PCR). Results Patients with BD had significantly lower miR-146a levels than control subjects (P < 0.001). Regarding the miR-155 expression level, no statistically significant differences were detected between patients and healthy controls (P = 0.736). The expression level of miR-146a showed no significant association with the different clinical manifestations of patients with BD. Conclusion This study suggests the possibility that miR-146a expression in patients with BD is involved in the pathogenesis of disease. Furthermore, it can be used as a diagnostic biomarker and a therapeutic target for BD in the future.

Background: Cytokines have been described to play a major role in the pathogenesis of idiopathic recurrent miscarriage (IRM). We investigated the association between IRM and a polymorphism of the interleukin-6 (IL-6). Methods: In a prospective casecontrol study, we studied 100 women with IRM and 60 healthy controls. Peripheral venous blood sample was taken from each woman for DNA extraction and PCR was employed to genotype women for the presence of a polymorphism at position-634 in the promoter region of IL-6. Results: Allele frequencies among women with IRM and controls were 82.5 and 78.3% respectively for allele C (wild type); 17.5% and 21.6% respectively for allele G (mutant). No association between allele G and the occurrence of IRM was found (odds ratio 1.304; 95% confidence interval = 0.760-2.299; P= NS). Conclusion: To our knowledge this is the first report on IL-6 polymorphism in IRM on Egyptian population, yet. the IL-6 polymorphism investigated was not associated with IRM in the studied group of Egyptian population.