Molecular diagnostics of lung cancer in the clinic.

摘要: According to current practice guidelines, all patients with advanced non-small cell lung cancer (NSCLC) should undergo predictive biomarker testing. For squamous carcinoma patients, PD-L1 immunohistochemistry is indicated select for immunotherapy in the first line. adenocarcinoma, disease testing epidermal growth factor receptor (EGFR) mutations, ALK and ROS1 rearrangements, expression predict response EGFR, ALK, or targeted inhibitors immunotherapy, respectively. Besides these, a number of other biomarkers are under clinical investigation as predictors therapies, including BRAF, ERBB2, MET splice mutations amplification, RET rearrangements. Successful this complex array molecular targets demands careful coordination between proceduralists, pathologists laboratories ensure proper tumor tissue handling following biopsy well judicious use diagnostic immunohistochemistry. Even so, sample failure rates due inadequate high practice, particularly when using sequential methods. Use next generation sequencing (NGS) can enable detection multiple alteration types (mutation, gene copy change, rearrangement) simultaneously even small amounts input nucleic acids, thus increasing success rates. In an established diagnosis but prohibitively limited who experiencing relapse, analyses circulating DNA (ctDNA) from plasma serve alternate substrate, however more sensitivity approach must be taken into account. This review will explore indications pitfalls routine NGS genotyping clinic, intersection these technologies.