The role of molecular diagnostics in cancer diagnosis and treatment

Abstract

The field of molecular diagnostics has improved our understanding of the pathophysiological mechanisms of malignant alteration, especially in lung cancer which remains the leading cause of cancer-related mortality worldwide. The role of the epidermal growth factor receptor (EGFR) and other molecules linked to the EGFR signaling pathway has been extensively studied, and they have become the target of new, specific therapies in lung adenocarcinomas. Similarly, the amplification of the fibroblast growth factor receptor 1 (FGFR1) gene described in squamous cell lung carcinomas has opened new possibilities for molecular targeted therapy. Next generation sequencing (NGS) methods have made possible an even more accurate detection of rare somatic mutations.