title: Next generation sequencing in non-small cell lung cancer: new avenues toward the personalized medicine.
abstract: 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.
authors.forename: Simona
authors.initials: S
authors.lastname: Coco
authors.forename: Anna
authors.initials: A
authors.lastname: Truini
authors.forename: Irene
authors.initials: I
authors.lastname: Vanni
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Dal Bello
authors.forename: Angela
authors.initials: A
authors.lastname: Alama
authors.forename: Erika
authors.initials: E
authors.lastname: Rijavec
authors.forename: Carlo
authors.initials: C
authors.lastname: Genova
authors.forename: Giulia
authors.initials: G
authors.lastname: Barletta
authors.forename: Claudio
authors.initials: C
authors.lastname: Sini
authors.forename: Giovanni
authors.initials: G
authors.lastname: Burrafato
authors.forename: Federica
authors.initials: F
authors.lastname: Biello
authors.forename: Francesco
authors.initials: F
authors.lastname: Boccardo
authors.affiliation: Lung Cancer Unit, IRCCS AOU San Martino - IST, L.go R. Benzi, 10, 16132, Genova, Italy. simona.coco@hsanmartino.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Grossi
mesh_terms: D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D019008:Drug Resistance, Neoplasm; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D009154:Mutation; D057285:Precision Medicine