Clinical utility of circulating tumor DNA for molecular assessment in pancreatic cancer

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Takai, Erina ^a   Totoki, Yasushi ^a   Nakamura, Hiromi ^a   Morizane, Chigusa ^b   Nara, Satoshi ^b   Hama, Natsuko ^a   Suzuki, Masami ^a   Furukawa, Eisaku ^a   Kato, Mamoru ^a   Hayashi, Hideyuki ^a,b   Kohno, Takashi ^a   Ueno, Hideki ^b   Shimada, Kazuaki ^b   Okusaka, Takuji ^b   Nakagama, Hitoshi ^a   Shibata, Tatsuhiro ^a,c   Yachida, Shinichi ^a  

^a NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^b NATIONAL CANCER CENTER HOSPITAL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; KRAS PROTEIN, HUMAN; PROTEIN P21;

ADULT; AGED; BLOOD; CLINICAL TRIAL; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MUTATION; PANCREAS CARCINOMA; PANCREAS TUMOR; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, PANCREATIC DUCTAL; DNA, NEOPLASM; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PANCREATIC NEOPLASMS; PROTO-ONCOGENE PROTEINS P21(RAS);

EID: 84950241706     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep18425     Document Type: Article

References (41)

1. Ferlay, J. et al. Cancer incidence and mortality worldwide: sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer 136, E359-386 (2015).
2. Biankin, A. V. et al. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature 491, 399-405 (2012).
3. Jones, S. et al. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321, 1801-1806 (2008).
4. Waddell, N. et al. Whole genomes redefine the mutational landscape of pancreatic cancer. Nature 518, 495-501 (2015).
5. Jones, S. et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med 7, 283ra253 (2015).
6. Chantrill, L. A. et al. Precision Medicine for Advanced Pancreas Cancer: The Individualized Molecular Pancreatic Cancer Therapy (IMPaCT) Trial. Clin Cancer Res 21, 2029-2037 (2015).
7. Von Hoff, D. D. et al. Pilot study using molecular profiling of patients' tumors to find potential targets and select treatments for their refractory cancers. J Clin Oncol 28, 4877-4883 (2010).
8. Overman, M. J. et al. Use of research biopsies in clinical trials: are risks and benefits adequately discussed J Clin Oncol 31, 17-22 (2013).
9. Diaz, L. A., Jr., Bardelli, A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol 32, 579-586 (2014).
10. Yachida, S., et al. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature 467, 1114-1117 (2010).
11. Campbell, P. J. et al. The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature 467, 1109-1113 (2010).
12. Dressman, D., Yan, H., Traverso, G., Kinzler, K. W., Vogelstein, B. Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations. Proc Natl Acad Sci USA 100, 8817-8822 (2003).
13. Kiss, M. M. et al. High-throughput quantitative polymerase chain reaction in picoliter droplets. Anal Chem 80, 8975-8981 (2008).
14. Didelot, A. et al. Multiplex picoliter-droplet digital PCR for quantitative assessment of DNA integrity in clinical samples. Clin Chem 59, 815-823 (2013).
15. Laurent-Puig, P. et al. Clinical relevance of KRAS-mutated subclones detected with picodroplet digital PCR in advanced colorectal cancer treated with anti-EGFR therapy. Clin Cancer Res 21, 1087-1097 (2015).
16. Bettegowda, C. et al. Detection of circulating tumor DNA in early-and late-stage human malignancies. Sci Transl Med 6, 224ra224 (2014).
17. Siravegna, G. et al. Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients. Nat Med (2015).
18. Zill, O. A. et al. Cell-Free DNA Next-Generation Sequencing in Pancreatobiliary Carcinomas. Cancer Discov 5, 1040-1048 (2015).
19. Sausen, M. et al. Clinical implications of genomic alterations in the tumour and circulation of pancreatic cancer patients. Nat Commun 6, 7686 (2015).
20. Rago, C. et al. Serial assessment of human tumor burdens in mice by the analysis of circulating DNA. Cancer Res 67, 9364-9370 (2007).
21. Yachida, S. et al. Clinical significance of the genetic landscape of pancreatic cancer and implications for identification of potential long-term survivors. Clin Cancer Res 18, 6339-6347 (2012).
22. Witkiewicz, A. K. et al. Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets. Nat Commun 6, 6744 (2015).
23. Loman, N. J. et al. Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 30, 434-439 (2012).
24. Cho, J. et al. Colon cancer-derived oncogenic EGFR G724S mutant identified by whole genome sequence analysis is dependent on asymmetric dimerization and sensitive to cetuximab. Mol Cancer 13, 141 (2014).
25. Kang, S., Bader, A. G., Vogt, P. K. Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. Proc Natl Acad Sci USA 102, 802-807 (2005).
26. Meyer, D. S. et al. Expression of PIK3CA mutant E545K in the mammary gland induces heterogeneous tumors but is less potent than mutant H1047R. Oncogenesis 2, e74 (2013).
27. Belic, J. et al. Rapid Identification of Plasma DNA Samples with Increased ctDNA Levels by a Modified FAST-SeqS Approach. Clin Chem 61, 838-849 (2015).
28. Kanda, M. et al. Presence of somatic mutations in most early-stage pancreatic intraepithelial neoplasia. Gastroenterology 142, 730-733 e739 (2012).
29. Murtaza, M. et al. Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature 497, 108-112 (2013).
30. Frenel, J. S. et al. Serial Next-Generation Sequencing of Circulating Cell-Free DNA Evaluating Tumor Clone Response To Molecularly Targeted Drug Administration. Clin Cancer Res (2015).
31. Lebofsky, R. et al. Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types. Mol Oncol 9, 783-790 (2015).
32. Couraud, S. et al. Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: a proof-of-concept study from BioCAST/IFCT-1002. Clin Cancer Res 20, 4613-4624 (2014).
33. Finn, R. S. et al. The cyclin-dependent kinase 4/6 inhibitor palbociclib in combination with letrozole versus letrozole alone as firstline treatment of oestrogen receptor-positive, HER2-negative, advanced breast cancer (PALOMA-1/TRIO-18): a randomised phase 2 study. Lancet Oncol 16, 25-35 (2015).
34. Aumayr, K. et al. HER2 gene amplification and protein expression in pancreatic ductal adenocarcinomas. Appl Immunohistochem Mol Morphol 22, 146-152 (2014).
35. Li, H., Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
36. Li, H. et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
37. Totoki, Y. et al. High-resolution characterization of a hepatocellular carcinoma genome. Nat Genet 43, 464-469 (2011).
38. Totoki, Y. et al. Trans-ancestry mutational landscape of hepatocellular carcinoma genomes. Nat Genet 46, 1267-1273 (2014).
39. Korbel, J. O. et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318, 420-426 (2007).
40. Mills, R. E. et al. Mapping copy number variation by population-scale genome sequencing. Nature 470, 59-65 (2011).
41. Van Loo, P. et al. Allele-specific copy number analysis of tumors. Proc Natl Acad Sci USA 107, 16910-16915 (2010).