Non-small cell lung cancer (NSCLC) is one of the most common causes of cancer-related death
worldwide. Based on the patient’s stage of disease, treatment options include surgery, radiotherapy, and
chemotherapy. Although chemotherapy remains the main therapeutic approach for advanced NSCLC, targeted
therapy represents a good chance of treatment for this subgroup of patients. Currently this approach is based on previous
evaluation of clinically relevant mutations and the Sanger sequencing is the main approach to assign mutational
status and to guide the appropriate treatment; however this tool is characterized by a low sensitivity. Recently, the advent
of next-generation sequencing (NGS) has dramatically revolutionized the molecular knowledge of cancer by increasing
the feasibility and possibility to sequence DNA ranging from large scale studies to targeted regions. This review reports
an overview of different applications of the NGS as novel approach to study NSCLC, thereby providing information about
mutational spectrum of this cancer in order to identify novel targetable mutations and to predict the emergence of drug resistance.
All studies demonstrated several advantages of this approach over the traditional tools. In particular the NGS was
also able to reveal mutations in low percentage, and to screen the mutational status of different critical samples such as biopsies,
cytological samples and circulating plasma DNA, offering innovative diagnostic opportunities. Despite several
problems have to be overcome toward the personalized therapy, the NGS represents a highly attractive system to identify
mutations improving the outcome of patients with this deadly disease.
Keywords: Drug resistance, mutational landscape, next generation sequencing, NSCLC, personalized therapy, targeted sequencing.
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