Molecular profiling of small cell lung cancer in a Japanese cohort

摘要: Abstract Objectives Advances in the molecular profiling of lung adenocarcinoma over past decade have led to a paradigm shift its diagnosis and treatment. However, there are very few reports on profiles small cell cancers (SCLCs). We therefore conducted present Shizuoka Lung Cancer Mutation Study analyze genomic aberrations patients with thoracic malignancies. Materials methods collected samples SCLC from biobank system analyzed their profiles. assessed 23 mutations nine genes ( EGFR , KRAS BRAF PIK3CA NRAS MEK1 AKT1 PTEN HER2 ) using pyrosequencing plus capillary electrophoresis. also amplified MET FGFR1 FGFR2 quantitative real-time polymerase chain reaction (PCR) fusion ALK ROS1 RET reverse transcription PCR. Results Between July 2011 January 2013, 60 were enrolled study. Samples included eight surgically resected snap-frozen samples, 50 formalin-fixed paraffin-embedded seven pleural effusion samples. detected 13 cases (15%), including an mutation n  = 1, G719A), G12D),  = 3, E542K, E545K, E545Q), E17K), amplification  = 1), amplifications  = 6). found combined adenocarcinoma. No significant differences characteristics without aberrations. serum neuron-specific enolase progastrin-releasing peptide levels significantly higher than those p  = 0.01 0.04, respectively). Conclusion Genomic 15% patients, most frequently observed. To further our understanding SCLC, comprehensive mutational analyses should be massive parallel sequencing.