Plasma circulating tumor DNA levels for the monitoring of melanoma patients: Landscape of available technologies and clinical applications

BioMed Research International

Volumn 2017, Issue , 2017, Pages

  Busser, Benoit ^a,b   Lupo, Julien ^a,c   Sancey, Lucie ^b   Mouret, Stéphane ^a   Faure, Patrice ^a,d   Plumas, Joel ^b,e   Chaperot, Laurence ^b,e   Leccia, Marie Thérèse ^a,b   Coll, Jean Luc ^b   Hurbin, Amandine ^b   Hainaut, Pierre ^b   Charles, Julie ^a,b  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b INSTITUTE FOR ADVANCED BIOSCIENCES   (France)

^c INSTITUT DE BIOLOGIE STRUCTURALE   (France)

^d UNIV GRENOBLE ALPES   (France)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE CIRCULATING TUMOR DNA; DNA; TUMOR MARKER; UNCLASSIFIED DRUG; TUMOR PROTEIN;

ARTICLE; CANCER PATIENT; CANCER PROGNOSIS; CIRCULATING TUMOR CELL; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HUMAN; MEDICAL TECHNOLOGY; MELANOMA; MOLECULAR BIOLOGY; NEXT GENERATION SEQUENCING; PHASE 2 CLINICAL TRIAL (TOPIC); POLYMERASE CHAIN REACTION; TUMOR GROWTH; BLOOD; GENETICS; METABOLISM; METASTASIS; PATHOLOGY; PHYSIOLOGIC MONITORING; PROCEDURES;

DNA, NEOPLASM; HUMANS; MELANOMA; MONITORING, PHYSIOLOGIC; NEOPLASM METASTASIS; NEOPLASM PROTEINS; POLYMERASE CHAIN REACTION;

EID: 85018842728     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2017/5986129     Document Type: Article

References (57)

1. A. Ziegler, U. Zangemeister-Wittke, and R. A. Stahel, "Circulating DNA: a new diagnostic gold mine?" Cancer Treatment Reviews, vol. 28, no. 5, pp. 255-271, 2002.
2. H. Y. Wong and B. H. Park, "Plasma tumor DNA: on your markers, get set, go!, " Annals of Translational Medicine, vol. 2, no. 1, article 2, 2014.
3. R. E. Board, G. Ellison, M. C. M. Orr et al., "Detection of BRAF mutations in the tumour and serum of patients enrolled in the AZD6244 (ARRY-142886) advanced melanoma phase II study, " British Journal of Cancer, vol. 101, no. 10, pp. 1724-1730, 2009.
4. S. J. Dawson, N. Rosenfeld, and C. Caldas, "Circulating tumor DNA tomonitormetastatic breast cancer, " New England Journal of Medicine, vol. 369, no. 1, pp. 93-94, 2013.
5. A. Diaz-Lagares, E. Alegre, A. Arroyo et al., "Evaluation of multiple serum markers in advanced melanoma, " Tumour Biology, vol. 32, no. 6, pp. 1155-1161, 2011.
6. M. S. Lawrence, P. Stojanov, P. Polak et al., "Mutational heterogeneity in cancer and the search for new cancer-associated genes, " Nature, vol. 499, no. 7457, pp. 214-218, 2013.
7. C. Bettegowda, M. Sausen, R. J. Leary et al., "Detection of circulating tumor DNA in early-and late-stage human malignancies, " Science Translational Medicine, vol. 6, no. 224, Article ID 224ra24, 2014.
8. E. Hodis, I. R. Watson, G. V. Kryukov et al., "A landscape of drivermutations inmelanoma, " Cell, vol. 150, no. 2, pp. 251-263, 2012.
9. M. Daniotti, V. Vallacchi, L. Rivoltini et al., "Detection of mutated BRAFV600E variant in circulating DNA of stage IIIIV melanoma patients, " International Journal of Cancer, vol. 120, no. 11, pp. 2439-2444, 2007.
10. P. T. C. Wan, M. J. Garnett, S. M. Roe et al., "Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF, " Cell, vol. 116, no. 6, pp. 855-867, 2004.
11. C. Milagre, N. Dhomen, F. C. Geyer et al., "A mouse model of melanoma driven by oncogenic KRAS, " Cancer Research, vol. 70, no. 13, pp. 5549-5557, 2010.
12. H. L. Vu and A. E. Aplin, "Targeting mutant NRAS signaling pathways in melanoma, " Pharmacological Research, vol. 107, pp. 111-116, 2016.
13. J. A. Jakob, R. L. Bassett Jr., C. S. Ng et al., "NRAS mutation status is an independent prognostic factor in metastatic melanoma, " Cancer, vol. 118, no. 16, pp. 4014-4023, 2012.
14. G. Kang, B. N. Bae, B. S. Sohn, J.-S. Pyo, G. H. Kang, and K.-M. Kim, "Detection of KIT and PDGFRA mutations in the plasma of patients with gastrointestinal stromal tumor, " Targeted Oncology, vol. 10, no. 4, pp. 597-601, 2015.
15. N. Wada, Y. Kurokawa, T. Takahashi et al., "Detecting secondary C-KIT mutations in the peripheral blood of patients with imatinib-resistant gastrointestinal stromal tumor, " Oncology, vol. 90, no. 2, pp. 112-117, 2016.
16. D. Handolias, A. L. Hamilton, R. Salemi et al., "Clinical responses observed with imatinib or sorafenib in melanoma patients expressingmutations in KIT, " British Journal of Cancer, vol. 102, no. 8, pp. 1219-1223, 2010.
17. M. Shinozaki, S. J. ODay, M. Kitago et al., "Utility of circulating B-RAF DNA mutation in serum for monitoring melanoma patients receiving biochemotherapy, " Clinical Cancer Research, vol. 13, no. 7, pp. 2068-2074, 2007.
18. M. Gonzalez-Cao, C. Mayo-De-Las-Casas, M. A. Molina-Vila et al., "BRAF mutation analysis in circulating free tumor DNA ofmelanoma patients treated with BRAF inhibitors, " Melanoma Research, vol. 25, no. 6, pp. 486-495, 2015.
19. K. L. Aung, E. Donald, G. Ellison et al., "Analytical validation of BRAF mutation testing from circulating free DNA using the amplification refractory mutation testing system, " Journal of Molecular Diagnostics, vol. 16, no. 3, pp. 343-349, 2014.
20. A. C. Knol, A. Vallee, G. Herbreteau et al., "Clinical significance of BRAF mutation status in circulating tumor DNA of metastatic melanoma patients at baseline, " Experimental Dermatology, vol. 25, no. 10, pp. 783-788, 2016.
21. V600E mutations in primary and metastatic melanoma, " PLoS ONE, vol. 7, no. 1, Article ID e29336, 2012.
22. D. J. Panka, E. Buchbinder, A. Giobbie-Hurder et al., "Clinical utility of a blood-based BRAFV600E mutation assay in melanoma, " Molecular Cancer Therapeutics, vol. 13, no. 12, pp. 3210-3218, 2014.
23. D. J. Panka, R. J. Sullivan, and J. W. Mier, "An inexpensive specific and highly sensitive protocol to detect the BrafV600E mutation in melanoma tumor biopsies and blood, " Melanoma Research, vol. 20, no. 5, pp. 401-407, 2010.
24. A. L. Reid, J. B. Freeman, M. Millward, M. Ziman, and E. S. Gray, "Detection of BRAF-V600E and V600K in melanoma circulating tumour cells by droplet digital PCR, " Clinical Biochemistry, vol. 48, no. 15, pp. 999-1002, 2015.
25. A. Ashida, K. Sakaizawa, A. Mikoshiba, H. Uhara, and R. Okuyama, "Quantitative analysis of the BRAFV600E mutation in circulating tumor-derived DNA in melanoma patients using competitive allele-specific TaqMan PCR, " International Journal of Clinical Oncology, vol. 21, no. 5, pp. 981-988, 2016.
26. F.-C. Bidard, J. Madic, P. Mariani et al., "Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma, " International Journal of Cancer, vol. 134, no. 5, pp. 1207-1213, 2014.
27. J. Madic, S. Piperno-Neumann, V. Servois et al., "Pyrophosphorolysis-activated polymerization detects circulating tumor DNA in metastatic uvealmelanoma, " Clinical Cancer Research, vol. 18, no. 14, pp. 3934-3941, 2012.
28. M. F. Sanmamed, S. Fernandez-Landazuri, C. Rodriguez et al., "Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors, " Clinical Chemistry, vol. 61, no. 1, pp. 297-304, 2015.
29. S. Chang-Hao Tsao, J. Weiss, C. Hudson et al., "Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations, " Scientific Reports, vol. 5, article 11198, 2015.
30. E. S. Gray, H. Rizos, A. L. Reid et al., "Circulating tumor DNA to monitor treatment response and detect acquired resistance in patients with metastatic melanoma, " Oncotarget, vol. 6, no. 39, pp. 42008-42018, 2015.
31. M. Schreuer, G. Meersseman, S. Van Den Herrewegen et al., "Quantitative assessment of BRAF V600 mutant circulating cell-free tumor DNA as a tool for therapeutic monitoringin metastatic melanoma patients treated with BRAF/MEK inhibitors, " Journal of Translational Medicine, vol. 14, article 95, 2016.
32. P. A. Ascierto, D. Minor, A. Ribas et al., "Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma, " Journal of Clinical Oncology, vol. 31, no. 26, pp. 3205-3211, 2013.
33. E. J. Lipson, V. E. Velculescu, T. S. Pritchard et al., "Circulating tumor DNA analysis as a real-time method for monitoring tumor burden inmelanoma patients undergoing treatment with immune checkpoint blockade, " Journal for ImmunoTherapy of Cancer, vol. 2, no. 1, article 42, 2014.
34. A. Santiago-Walker, R. Gagnon, J. Mazumdar et al., "Correlation of BRAF mutation status in circulating-free DNA and tumor and association with clinical outcome across four BRAFi and MEKi clinical trials, " Clinical Cancer Research, vol. 22, no. 3, pp. 567-574, 2016.
35. M. R. Girotti, G. Gremel, R. Lee et al., "Application of sequencing, liquid biopsies, and patient-derived xenografts for personalized medicine in melanoma, " Cancer Discovery, vol. 6, no. 3, pp. 286-299, 2016.
36. P. Pinzani, F. Salvianti, R. Cascella et al., "Allele specific Taqmanbased real-time PCR assay to quantify circulating BRAFV600E mutated DNA in plasma of melanoma patients, " Clinica Chimica Acta, vol. 411, no. 17-18, pp. 1319-1324, 2010.
37. M. Fleischhacker and B. Schmidt, "Circulating nucleic acids (CNAs) and cancer-a survey, " Biochimica et Biophysica Acta, vol. 1775, no. 1, pp. 181-232, 2007.
38. L. A. Diaz Jr. and A. Bardelli, "Liquid biopsies: genotyping circulating tumor DNA, " Journal of Clinical Oncology, vol. 32, no. 6, pp. 579-586, 2014.
39. T. C. Dingle, R. H. Sedlak, L. Cook, and K. R. Jerome, "Tolerance of droplet-digital PCR vs real-time quantitative PCR to inhibitory substances, " Clinical Chemistry, vol. 59, no. 11, pp. 1670-1672, 2013.
40. J. F. Huggett, S. Cowen, and C. A. Foy, "Considerations for digital PCR as an accurate molecular diagnostic tool, " Clinical Chemistry, vol. 61, no. 1, pp. 79-88, 2015.
41. T. Forshew, M. Murtaza, C. Parkinson et al., "Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA, " Science Translational Medicine, vol. 4, no. 136, Article ID 136ra68, 2012.
42. I. Kinde, J. Wu, N. Papadopoulos, K. W. Kinzler, and B. Vogelstein, "Detection and quantification of rare mutations with massively parallel sequencing, " Proceedings of the National Academy of Sciences of the United States of America, vol. 108, no. 23, pp. 9530-9535, 2011.
43. D. A. Haber and V. E. Velculescu, "Blood-based analyses of cancer: circulating tumor cells and circulating tumor DNA, " Cancer Discovery, vol. 4, no. 6, pp. 650-661, 2014.
44. S. E. Norton, J. M. Lechner, T. Williams, and M. R. Fernando, "A stabilizing reagent prevents cell-free DNA contamination by cellular DNA in plasma during blood sample storage and shipping as determined by digital PCR, " Clinical Biochemistry, vol. 46, no. 15, pp. 1561-1565, 2013.
45. P. V. Toro, B. Erlanger, J. A. Beaver et al., "Comparison of cell stabilizing blood collection tubes for circulating plasma tumor DNA, " Clinical Biochemistry, vol. 48, no. 15, pp. 993-998, 2015.
46. X. Xue, M. D. Teare, I. Holen, Y. M. Zhu, and P. J. Woll, "Optimizing the yield and utility of circulating cell-free DNA from plasma and serum, " Clinica Chimica Acta, vol. 404, no. 2, pp. 100-104, 2009.
47. E. Heitzer, P. Ulz, and J. B. Geigl, "Circulating tumor DNA as a liquid biopsy for cancer, " Clinical Chemistry, vol. 61, no. 1, pp. 112-123, 2015.
48. J. Lin, Y. Goto, H. Murata et al., "Polyclonality of BRAF mutations in primary melanoma and the selection of mutant alleles during progression, " British Journal of Cancer, vol. 104, no. 3, pp. 464-468, 2011.
49. K. Omholt, A. Platz, L. Kanter, U. Ringborg, and J. Hansson, "NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression, " Clinical Cancer Research, vol. 9, no. 17, pp. 6483-6488, 2003.
50. M. Murtaza, S.-J. Dawson, D. W. Y. Tsui et al., "Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA, " Nature, vol. 497, no. 7447, pp. 108-112, 2013.
51. A. M. Newman, S. V. Bratman, J. To et al., "An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage, " Nature Medicine, vol. 20, no. 5, pp. 548-554, 2014.
52. J. Charles, C. Martel, F. De Fraipont, M.-T. Leccia, C. Robert, and B. Busser, "Mechanisms of resistance to anti-BRAF treatments, " Annales de Dermatologie et de Venereologie, vol. 141, no. 11, pp. 671-681, 2014.
53. G. R. Oxnard, C. P. Paweletz, Y. Kuang et al., "Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cellfree plasma DNA, " Clinical Cancer Research, vol. 20, no. 6, pp. 1698-1705, 2014.
54. T. Mori, S. J. ODay, N. Umetani et al., "Predictive utility of circulating methylated DNA in serum of melanoma patients receiving biochemotherapy, " Journal of Clinical Oncology, vol. 23, no. 36, pp. 9351-9358, 2005.
55. K. Koyanagi, T. Mori, S. J. ODay, S. R. Martinez, H.-J. Wang, and D. S. B. Hoon, "Association of circulating tumor cells with serum tumor-related methylated DNA in peripheral blood of melanoma patients, " Cancer Research, vol. 66, no. 12, pp. 6111-6117, 2006.
56. E. Day, P. H. Dear, and F. McCaughan, "Digital PCR strategies in the development and analysis of molecular biomarkers for personalized medicine, " Methods, vol. 59, no. 1, pp. 101-107, 2013.
57. M. Murtaza, S.-J. Dawson, K. Pogrebniak et al., "Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer, " Nature Communications, vol. 6, article 8760, 2015.