Molecular Genetic Testing and Liquid Biopsy in Lung Cancer: Present and Future
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https://doi.org/10.5152/EurJTher.2018.1004Keywords:
Lung cancer, genetic biomarkers, liquid biopsyAbstract
The genetic landscape of lung cancer has been expanded over decades with advancements in molecular genetic technologies. Despite improvements, the survival rate of lung cancer is still low. When diagnosed at an early stage, resection of tumor or lobectomy is possible, survival rate increases accordingly. Therefore it is crucial to identify diagnostic or predictive biomarkers and develop new technologies which can efficiently analyze these biomarkers. Since lung tumor tissue is difficult for sampling and requires invasive procedures, identification of non-invasive blood-based tumor biomarkers has become attractive recently. This review will summarize clinically significant key genetic biomarkers and focus on liquid biopsy which means analyzing of noninvasive biomarkers such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), circulating miRNAs and exosomes.
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Awad MM, Katayama R, McTigue M, Liu W, Deng, YL, Brooun A., et al. Acquired resistance to crizotinib from a mutation in CD74-ROS1. N Eng J Med 2013; 368: 2395-401.
Bayarri-Lara C, Ortega FG, Cueto Ladrón de Guevara A, Puche JL, Zafra, JR, de Miguel-Pérez D, et al. Circulating tumor cells identify early recurrence in patients with non-small cell lung cancer undergoing radical resection. PloS One, 2016; 11: 0148659.
Bergethon K, Shaw AT, Ou SH, Katayama R, Lovly CM, McDonald NT, et al. ROS1 rearrangements define a unique molecular class of lung cancers. J Clin Oncol 2012; 30: 863-70.
Bettegowda C, Sausen M, Leary R J, Kinde I, Wang Y, Agrawal N, et al. Detection of circulating tumor DNA in early-and late-stage human malignancies. Sci Transl Med 2014; 6: 224ra24.
Campbell JD, Alexandrov A, Kim J, Wala J, Berger AH, Pedamallu CS, et al. Distinct patterns of somatic genome alterations in lung adenocarcinomas and squamous cell carcinomas. Nat Genet 2016; 48: 607-16.
Catarino R, Coelho A, Araújo A, Gomes M, Nogueira A, Lopes C, et al. Circulating DNA: diagnostic tool and predictive marker for overall survival of NSCLC patients. PloS One 2012; 7: e38559.
Chow A, Zhou W, Liu L, Fong MY, Champer J, Van Haute D, et al. Macrophage immunomodulation by breast cancer-derived exosomes requires Toll-like receptor 2-mediated activation of NF-κB. Sci Rep 2014; 4: 5750.
De Greve J, Teugels E, Geers C, Decoster L, Galdermans D, De Mey J, et al. Clinical activity of afatinib (BIBW 2992) in patients with lung adenocarcinoma with mutations in the kinase domain of HER2/neu. Lung Cancer 2012; 76: 123-7.
Dejima H, Iinuma H, Kanaoka R, Matsutani N, Kawamura M. Exosomal microRNA in plasma as a non invasive biomarker for the recurrence of non small cell lung cancer. Oncology let 2017; 13: 1256-63.
Diehl F, Schmidt K, Choti MA, Romans K, Goodman S, Li M, et al. Circulating mutant DNA to assess tumor dynamics. Nat Med 2008; 14: 985-90.
Douillard J, Ostoros G, Cobo M, Ciuleanu T, Cole R, McWalter G, et al. Gefitinib treatment in EGFR mutated caucasian NSCLC: circulating-free tumor DNA as a surrogate for determination of EGFR status. J Thorac Oncol 2014; 9: 1345-53.
Drilon A, Rekhtman N, Arcila M, Wang L, Ni A, Albano M, et al. Cabozantinib in patients with advanced RET-rearranged non-smallcell lung cancer: an open-label, single-centre, phase 2, single-arm trial. Lancet Oncol 2016; 17: 1653-60.
Drilon A, Somwar R, Wagner JP, Vellore, NA, Eide CA, et al. A novel crizotinib-resistant solvent-front mutation responsive to cabozantinib therapy in a patient with ROS1-rearranged lung cancer. Clin Cancer Res 2016; 22: 2351-8.
Gautschi O, Bigosch C, Huegli B, Jermann M, Marx A, Chassé E, et al. Circulating deoxyribonucleic acid as prognostic marker in non–small-cell lung cancer patients undergoing chemotherapy. J Clin Oncol 2004; 22: 4157-64.
Hu Z, Chen X, Zhao Y, Tian T, Jin G, Shu Y, et al. Serum MicroRNA signatures identified in a genome-wide serum MicroRNA expressprofiling predict survival of non-small-cell lung cancer. J Clin Oncol 2010; 28: 1721-6.
Wang J, Wang K, Xu J, Huang J, Zhang T. Prognostic significance of circulating tumor cells in non-small-cell lung cancer patients: a meta-analysis. PloS One 2013; 8: 78070.
Hupfeld T, Chapuy B, Schrader V, Beutler M, Veltkamp C, Koch R, et al. Tyrosinekinase inhibition facilitates cooperation of transcription factor SALL4 and ABC transporter A3 towards intrinsic CML cell drug resistance. Br J Hematol 2013; 161: 204-13.
Ji H, Li D, Chen L, Shimamura T, Kobayashi S, McNamara K, et al. The impact of human EGFR kinase domain mutations on lung tumorigenesis and in vivo sensitivity to EGFR-targeted therapies. Cancer cell 2006; 9: 485-95.
Kimura H, Suminoe M, Kasahara K, Sone T, Araya T, Tamori S, et al. Evaluation of epidermal growth factor receptor mutation status in serum DNA as a predictor of response to gefitinib (IRESSA). Br J Cancer 2007; 97: 778-84.
Krebs MG, Sloane R, Priest L, Lancashire L, Hou JM, Greystoke A, et al. Evaluation and prognostic significance of circulating tumor cells in patients with non–small-cell lung cancer. J Clin Oncol 2011; 29: 1556-63.
Luo J, Shen L, Zheng D. Diagnostic value of circulating free DNA for the detection of EGFR mutation status in NSCLC: a systematic review and meta-analysis. Sci Rep 2014; 4: 6269.
Mao C, Yuan JQ, Yang ZY, Fu XH, Wu XY, Tang, JL. Blood as a substitute for tumor tissue in detecting EGFR mutations for guiding EGFR TKIs treatment of nonsmall cell lung cancer: a systematic review and meta-analysis. Medicine (Baltimore) 2015; 94: 775.
Newman AM, Bratman SV, To J, Wynne JF, Eclov NC, Modlin LA, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 2014; 20: 548-54.
Paci M, Maramotti S, Bellesia E, Formisano D, Albertazzi L, Ricchetti T, et al. Circulating plasma DNA as diagnostic biomarker in non-small cell lung cancer. Lung Cancer 2009; 64: 92-7.
Paez JG, Jänne PA, Lee JC, Tracy S, Greulich H, Gabriel S., et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004; 304: 1497-500.
Pantel K, Alix-Panabières C. Circulating tumour cells in cancer patients: challenges and perspectives. Trends Mol Med 2010; 16: 398-406.
Planchard D, Kim T M, Mazieres J, Quoix, E, Riely, G., Barlesi F, et al. Dabrafenib in patients with BRAFV600E-positive advanced nonsmall-cell lung cancer: a single-arm, multicentre, open-label, phase 2 trial. Lancet Oncol 2016; 17: 642-50.
Postow MA, Callahan MK, Wolchok JD. Immune checkpoint blockade in cancer therapy. J Clin Oncol 2015; 33: 1974-82.
Rabinowits G, Gerçel-Taylor C, Day JM, Taylor DD, Kloecker GH. Exosomal microRNA: a diagnostic marker for lung cancer. Clin Lung Cancer, 2009; 10, 42-6.
Raimondo S, Saieva L, Corrado C, Fontana S, Flugy A, Rizzo A, et al. Chronic myeloid leukemia-derived exosomes promote tumor growth through an autocrine mechanism. Cell Commun Signal 2015; 13: 8.
Reck M, Rodríguez-Abreu D, Robinson AG, Hui R, Csőszi T, Fülöp, A, et al.Pembrolizumab versus chemotherapy for PD-L1–positive non–small-cell lung cancer. N Eng J Med 2016; 375: 1823-33.
Reclusa P, Taverna S, Pucci M, Durendez E, Calabuig S, Manca P, et al. (2017). Exosomes as diagnostic and predictive biomarkers in lung cancer. J Thorac Dis 2017; 9: 1373-82
Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, et al. Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell 2007; 131: 1190-203.
Sacher AG, Paweletz C, Dahlberg SE., Alden RS, O’Connell A, Feeney N, et al. Prospective validation of rapid plasma genotyping for the detection of EGFR and KRAS mutations in advanced lung cancer. JAMA Oncol 2016; 2: 1014-22.
Sequist LV, Waltman BA, Dias-Santagata D, Digumarthy S, Turke AB, Fidias P, et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med 2011; 3: 75ra26.
Shaw AT, Kim DW, Nakagawa K, Seto T, Crinó L, Ahn MJ, et al. Crizotinib versus chemotherapy in advanced ALK-positive lung cancer. N Eng J Med 2013; 368: 2385-94.
Shaw AT, Yeap BY, Mino-Kenudson M, Digumarthy SR, Costa DB, Heist RS, et al. Clinical features and outcome of patients with nonsmall-cell lung cancer who harbor EML4-ALK. J Clin Oncol 2009; 27: 4247-53.
Sholl L. Molecular diagnostics of lung cancer in the clinic. Transl Lung Cancer Res 2017; 6: 560-9.
Skoulidis F, Byers LA, Diao L, Papadimitrakopoulou VA, Tong P, Izzo J, et al. Co-occurring genomic alterations define major subsets of KRAS-mutant lung adenocarcinoma with distinct biology, immune profiles, and therapeutic vulnerabilities. Cancer Discov 2015; 5: 860-77.
Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, et al. Identification of the transforming EML4–ALK fusion gene in nonsmall-cell lung cancer. Nature 2007; 448: 561-6.
Sozzi G, Conte D, Leon M, Cirincione R, Roz L, Ratcliffe C, et al. Quantification of free circulating DNA as a diagnostic marker in lung cancer. J Clin Oncol 2003; 21: 3902-8.
Taube JM. Unleashing the immune system: PD-1 and PD-Ls in the pre-treatment tumor microenvironment and correlation with response to PD-1/PD-L1 blockade. Oncoimmunology 2014; 3: 963413.
Taverna S, Giallombardo M, Gil-Bazo I, Carreca AP, Castiglia M, Chacártegui J, et al. Exosomes isolation and characterization in serum is feasible in non-small cell lung cancer patients: critical analysis of evidence and potential role in clinical practice. Oncotarget 2016; 7: 28748-60.
Toyoda, Y, Nakayama T, Kusunoki Y, Iso H, Suzuki T. Sensitivity and specificity of lung cancer screening using chest low-dose computed tomography. Br J Cancer 2008; 98, 1602-7.
Weidle UH, Birzele F, Kollmorgen G, Rueger R. The multiple roles of exosomes in metastasis. Cancer Genomics-Proteomics 2017; 14: 1-15.
Williams, SC. Circulating tumor cells. Proc Natl Acad Sci 2013; 110, 4861.
Wozniak MB, Scelo G, Muller DC, Mukeria A, Zaridze D, Brennan P. Circulating microRNAs as non-invasive biomarkers for early detection of non-small-cell lung cancer. PloS one 2015; 10, e0125026.
Xu-Welliver M, Carbone DP. Blood-based biomarkers in lung cancer: prognosis and treatment decisions. Transl Lung Cancer Res 2017; 6: 708-12.
Yuxia M, Zhennan T, Wei Z. Circulating miR-125b is a novel biomarker for screening non-small-cell lung cancer and predicts poor prognosis. JCancer Res Clin Oncol 2012; 138, 2045-50.
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