Abstract

The diagnosis and management of lung cancer today has been revolutionized by advances in molecular pathology and diagnostics. The discovery of oncogenic driver mutations in epidermal growth factor receptor (EGFR) and anaplastic lymphoma kinase (ALK) genes and the development of targeted tyrosine kinase inhibitors have provided novel therapies that are the epitome of personalized medicine. There is a growing number of targetable genetic alterations, including rearrangements of ROS1 receptor tyrosine kinase (ROS1), Neurotrophic tyrosine receptor kinase (NTRK) and RET (RET), BRAF V600E and KRAS G12C mutations, as well as exon14 splice site mutations and amplification of MET (MET). The unique challenges in lung cancer diagnosis surround the optimal use of small-volume tissue samples for both pathological diagnosis and molecular analysis. This has encouraged the discovery of new molecular targets and technological innovations in molecular diagnostics that push the field forward. These have provided new hope for patients with lung cancer, which has traditionally been considered an incalcitrant cancer with limited effective therapies.

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