Clinical implications of genomic discoveries in lung cancer

New England Journal of Medicine

Volumn 374, Issue 19, 2016, Pages 1864-1873

  Swanton, Charles ^a   Govindan, Ramaswamy ^b  

^a UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^b USA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; NUCLEOTIDE; PROGRAMMED DEATH 1 ANTIBODY; PROTEIN ANTIBODY; TRANSCRIPTOME; TUMOR MARKER; UNCLASSIFIED DRUG;

CANCER GENETICS; CANCER IMMUNOTHERAPY; CANCER PROGNOSIS; CANCER RISK; CELLS BY BODY ANATOMY; CHROMOSOME DISORDER; CLONAL EVOLUTION; DNA MODIFICATION; EPIGENETICS; GENE DELETION; GENE DOSAGE; GENE INSERTION; GENE MUTATION; GENETIC HETEROGENEITY; GENOMICS; HUMAN; LUNG CANCER; LUNG CARCINOGENESIS; MOLECULAR PATHOLOGY; MOLECULARLY TARGETED THERAPY; NONHUMAN; PREDICTION; PRIORITY JOURNAL; REVIEW; TREATMENT RESPONSE; ADENOCARCINOMA; ADVERSE EFFECTS; GENETIC EPIGENESIS; GENETICS; IMMUNOTHERAPY; LUNG NEOPLASMS; MUTATION; SMOKING;

ADENOCARCINOMA; CLONAL EVOLUTION; EPIGENESIS, GENETIC; GENOMICS; HUMANS; IMMUNOTHERAPY; LUNG NEOPLASMS; MUTATION; SMOKING;

EID: 84966470734     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMra1504688     Document Type: Review

References (47)

1. Siegel RL, Miller KD, Jemal A. Cancer statistics, 2015. CA Cancer J Clin 2015; 65: 5-29.
2. Travis WD, Brambilla E, Nicholson AG, et al. The 2015 World Health Organization Classification of Lung Tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol 2015; 10: 1243-60.
3. Kandoth C, McLellan MD, Vandin F, et al. Mutational landscape and significance across 12 major cancer types. Nature 2013; 502: 333-9.
4. Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014; 511: 543-50.
5. Govindan R, Ding L, Griffith M, et al. Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell 2012; 150: 1121-34.
6. Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012; 489: 519-25.
7. George J, Lim JS, Jang SJ, et al. Comprehensive genomic profiles of small cell lung cancer. Nature 2015; 524: 47-53.
8. Lawrence MS, Stojanov P, Mermel CH, et al. Discovery and saturation analysis of cancer genes across 21 tumour types. Nature 2014; 505: 495-501.
9. Larsen JE, Minna JD. Molecular biology of lung cancer: clinical implications. Clin Chest Med 2011; 32: 703-40.
10. Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal 2013; 6: pl1.
11. Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov 2012; 2: 401-4.
12. Rudin CM, Durinck S, Stawiski EW, et al. Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. Nat Genet 2012; 44: 1111-6.
13. Peifer M, Fernández-Cuesta L, Sos ML, et al. Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. Nat Genet 2012; 44: 1104-10.
14. Kim Y, Hammerman PS, Kim J, et al. Integrative and comparative genomic analysis of lung squamous cell carcinomas in East Asian patients. J Clin Oncol 2014; 32: 121-8.
15. Iwakawa R, Kohno T, Totoki Y, et al. Expression and clinical significance of genes frequently mutated in small cell lung cancers defined by whole exome/RNA sequencing. Carcinogenesis 2015; 36: 616-21.
16. Imielinski M, Berger AH, Hammerman PS, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012; 150: 1107-20.
17. Vaishnavi A, Capelletti M, Le AT, et al. Oncogenic and drug-sensitive NTRK1 rearrangements in lung cancer. Nat Med 2013; 19: 1469-72.
18. Nakaoku T, Tsuta K, Ichikawa H, et al. Druggable oncogene fusions in invasive mucinous lung adenocarcinoma. Clin Cancer Res 2014; 20: 3087-93.
19. Fernandez-Cuesta L, Plenker D, Osada H, et al. CD74-NRG1 fusions in lung adenocarcinoma. Cancer Discov 2014; 4: 415-22.
20. Wu YM, Su F, Kalyana-Sundaram S, et al. Identification of targetable FGFR gene fusions in diverse cancers. Cancer Discov 2013; 3: 636-47.
21. Fernandez-Cuesta L, Peifer M, Lu X, et al. Frequent mutations in chromatinremodelling genes in pulmonary carcinoids. Nat Commun 2014; 5: 3518.
22. Rock JR, Hogan BL. Epithelial progenitor cells in lung development, maintenance, repair, and disease. Annu Rev Cell Dev Biol 2011; 27: 493-512.
23. Cheung WK, Nguyen DX. Lineage factors and differentiation states in lung cancer progression. Oncogene 2015; 34: 5771-80.
24. Sutherland KD, Proost N, Brouns I, Adriaensen D, Song JY, Berns A. Cell of origin of small cell lung cancer: inactivation of Trp53 and Rb1 in distinct cell types of adult mouse lung. Cancer Cell 2011; 19: 754-64.
25. Desai TJ, Brownfield DG, Krasnow MA. Alveolar progenitor and stem cells in lung development, renewal and cancer. Nature 2014; 507: 190-4.
26. Zhao L, Yee M, O'Reilly MA. Transdifferentiation of alveolar epithelial type II to type I cells is controlled by opposing TGF-? and BMP signaling. Am J Physiol Lung Cell Mol Physiol 2013; 305: L409-18.
27. Yates LR, Campbell PJ. Evolution of the cancer genome. Nat Rev Genet 2012; 13: 795-806.
28. Burrell RA, McGranahan N, Bartek J, Swanton C. The causes and consequences of genetic heterogeneity in cancer evolution. Nature 2013; 501: 338-45.
29. Zhang J, Fujimoto J, Zhang J, et al. Intratumor heterogeneity in localized lung adenocarcinomas delineated by multiregion sequencing. Science 2014; 346: 256-9.
30. de Bruin EC, McGranahan N, Mitter R, et al. Spatial and temporal diversity in genomic instability processes defines lung cancer evolution. Science 2014; 346: 251-6.
31. McGranahan N, Swanton C. Biological and therapeutic impact of intratumor heterogeneity in cancer evolution. Cancer Cell 2015; 27: 15-26.
32. McFadden DG, Papagiannakopoulos T, Taylor-Weiner A, et al. Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing. Cell 2014; 156: 1298-311.
33. Calbo J, van Montfort E, Proost N, et al. A functional role for tumor cell heterogeneity in a mouse model of small cell lung cancer. Cancer Cell 2011; 19: 244-56.
34. Niederst MJ, Sequist LV, Poirier JT, et al. RB loss in resistant EGFR mutant lung adenocarcinomas that transform to smallcell lung cancer. Nat Commun 2015; 6: 6377.
35. Oxnard GR, Binder A, Jänne PA. New targetable oncogenes in non-small-cell lung cancer. J Clin Oncol 2013; 31: 1097-104.
36. Kris MG, Johnson BE, Berry LD, et al. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA 2014; 311: 1998-2006.
37. Hagemann IS, Devarakonda S, Lockwood CM, et al. Clinical next-generation sequencing in patients with non-small cell lung cancer. Cancer 2015; 121: 631-9.
38. Katayama R, Shaw AT, Khan TM, et al. Mechanisms of acquired crizotinib resistance in ALK-rearranged lung cancers. Sci Transl Med 2012; 4: 120ra17.
39. Choi YL, Soda M, Yamashita Y, et al. EML4-ALK mutations in lung cancer that confer resistance to ALK inhibitors. N Engl J Med 2010; 363: 1734-9.
40. Rizvi NA, Hellmann MD, Snyder A, et al. Cancer immunology: mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 2015; 348: 124-8.
41. Lebofsky R, Decraene C, Bernard V, et al. Circulating tumor DNA as a noninvasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types. Mol Oncol 2015; 9: 783-90.
42. Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 2014; 20: 548-54.
43. Chan KC, Jiang P, Zheng YW, et al. Cancer genome scanning in plasma: detection of tumor-Associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. Clin Chem 2013; 59: 211-24.
44. Dawson S-J, Tsui DWY, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med 2013; 368: 1199-209.
45. Szpechcinski A, Chorostowska-Wynimko J, Struniawski R, et al. Cell-free DNA levels in plasma of patients with non-smallcell lung cancer and inflammatory lung disease. Br J Cancer 2015; 113: 476-83.
46. Hodgkinson CL, Morrow CJ, Li Y, et al. Tumorigenicity and genetic profiling of circulating tumor cells in small-cell lung cancer. Nat Med 2014; 20: 897-903.
47. Downward J. RAS synthetic lethal screens revisited: still seeking the elusive prize? Clin Cancer Res 2015; 21: 1802-9.