High-throughput somatic mutation profiling in pulmonary sarcomatoid carcinomas using the LungCarta™ Panel: exploring therapeutic targets

摘要: ABSTRACT Background Pulmonary sarcomatoid carcinomas (SC) are tumors characterized by poor prognosis and resistance to conventional platinum-based chemotherapy. This study sought describe the mutational profile of SC using high-throughput genotyping technology. Patients methods We used mass spectrometry test 114 surgical biopsies from 81 patients with for 214 mutations affecting 26 oncogenes tumor suppressor genes. Results In total, 75 (92.6%) were smokers. Within total tumors, 67 distinct somatic alterations identified, 56 (69.1%) harboring at least one mutation. The most frequent KRAS (27.2%), EGFR (22.2%), TP53 STK11 (7.4%), NOTCH1 (4.9%), NRAS PI3KCA (4.9%). almost always rare (89%). 32 (39.5%), two or more co-existed, up four in a single case. six different cases, comparative genetic analysis histological areas same (giant, spindle, epithelial component) revealed 61% concordance rate all 10% detection threshold, compared 91.7% 20% threshold. Conclusion Our results demonstrated high mutation co-mutations. Despite exhibiting heterogeneity, some intratumoral molecular homogeneity was found. Now newly developed targeted therapies, may be eligible new target mutations, can now therefore screened clinical trials.