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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service


Sarah Wordsworth and colleagues study the feasibility of employing next-generation sequencing of tumor DNA in clinical practice.


Vyšlo v časopise: Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service. PLoS Med 14(2): e32767. doi:10.1371/journal.pmed.1002230
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pmed.1002230

Souhrn

Sarah Wordsworth and colleagues study the feasibility of employing next-generation sequencing of tumor DNA in clinical practice.


Zdroje

1. National Institute for Health and Care Excellence. Erlotinib for the first-line treatment of locally advanced or metastatic EGFR-TK mutation-positive non-small-cell lung cancer. NICE technology appraisal guidance 258. London: National Institute for Health and Care Excellence; 2012 [cited 2017 Jan 17]. Available from: https://www.nice.org.uk/guidance/ta258.

2. National Institute for Health and Care Excellence. Cetuximab for the first-line treatment of metastatic colorectal cancer. NICE technology appraisal guidance 176. London: National Institute for Health and Care Excellence; 2009 [cited 2017 Jan 17]. Available from: https://www.nice.org.uk/Guidance/TA176.

3. National Institute for Health and Care Excellence. Vemurafenib for treating locally advanced or metastatic BRAF V600 mutation-positive malignant melanoma. NICE technology appraisal guidance 269. London: National Institute for Health and Care Excellence; 2012 [cited 2017 Jan 17]. Available from: https://www.nice.org.uk/Guidance/TA269.

4. Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31(11):1023–31. doi: 10.1038/nbt.2696 24142049

5. Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, et al. Validation of a next-generation sequencing assay for clinical molecular oncology. J Mol Diagn. 2014;16(1):89–105. doi: 10.1016/j.jmoldx.2013.10.002 24211365

6. Kanagal-Shamanna R, Portier BP, Singh RR, Routbort MJ, Aldape KD, Handal BA, et al. Next-generation sequencing-based multi-gene mutation profiling of solid tumors using fine needle aspiration samples: promises and challenges for routine clinical diagnostics. Mod Pathol. 2014;27(2):314–27. doi: 10.1038/modpathol.2013.122 23907151

7. Tsongalis GJ, Peterson JD, de Abreu FB, Tunkey CD, Gallagher TL, Strausbaugh LD, et al. Routine use of the Ion Torrent AmpliSeq (TM) Cancer Hotspot Panel for identification of clinically actionable somatic mutations. Clin Chem Lab Med. 2014;52(5):707–14. doi: 10.1515/cclm-2013-0883 24334431

8. Gottlieb B, Beitel LK, Trifiro M. Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships. Hum Genomics. 2014;8:9. doi: 10.1186/1479-7364-8-9 24885908

9. Fiore LD, Brophy MT, Turek S, Kudesia V, Ramnath N, Shannon C, et al. The VA Point-of-Care Precision Oncology Program: balancing access with rapid learning in molecular cancer medicine. Biomark Cancer. 2016;8:9–16. doi: 10.4137/BIC.S37548 26949343

10. Midgley RS, McConkey CC, Johnstone EC, Dunn JA, Smith JL, Grumett SA, et al. Phase III randomized trial assessing rofecoxib in the adjuvant setting of colorectal cancer: final results of the VICTOR trial. J Clin Oncol. 2010;28(30):4575–80. doi: 10.1200/JCO.2010.29.6244 20837956

11. Shaw CD. Principles for best practice in clinical audit. Int J Qual Health Care. 2003;15(1):87.

12. Loupakis F, Ruzzo A, Cremolini C, Vincenzi B, Salvatore L, Santini D, et al. KRAS codon 61, 146 and BRAF mutations predict resistance to cetuximab plus irinotecan in KRAS codon 12 and 13 wild-type metastatic colorectal cancer. Br J Cancer. 2009;101(4):715–21. doi: 10.1038/sj.bjc.6605177 19603018

13. Dienstmann R, Dong F, Borger D, Dias-Santagata D, Ellisen LW, Le LP, et al. Standardized decision support in next generation sequencing reports of somatic cancer variants. Mol Oncol. 2014;8(5):859–73. doi: 10.1016/j.molonc.2014.03.021 24768039

14. Wagle N, Berger MF, Davis MJ, Blumenstiel B, Defelice M, Pochanard P, et al. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov. 2012;2(1):82–93. doi: 10.1158/2159-8290.CD-11-0184 22585170

15. Dubbink HJ, Deans ZC, Tops BB, van Kemenade FJ, Koljenovic S, van Krieken HJ, et al. Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe. Mol Oncol. 2014;8(4):830–9. doi: 10.1016/j.molonc.2014.03.004 24704265

16. Wong DW-S, Leung EL-H, So KK-T, Tam IY-S, Sihoe AD-L, Cheng L-C, et al. The EML4-ALK fusion gene is involved in various histologic types of lung cancers from nonsmokers with wild-type EGFR and KRAS. Cancer. 2009;115(8):1723–33. doi: 10.1002/cncr.24181 19170230

17. National Institute for Health and Care Excellence. Gefitinib for the first-line treatment of locally advanced or metastatic non-small-cell lung cancer. Technology appraisal guidance 192. London: National Institute for Health and Care Excellence; 2010. Available from: https://www.nice.org.uk/guidance/ta192.

18. Gupta A, Love S, Schuh A, Shanyinde M, Larkin JM, Plummer R, et al. DOC-MEK: a double-blind randomized phase II trial of docetaxel with or without selumetinib in wild-type BRAF advanced melanoma. Ann Oncol. 2014;25(5):968–74. doi: 10.1093/annonc/mdu054 24567366

19. Ciruelos Gil EM. Targeting the PI3K/AKT/mTOR pathway in estrogen receptor-positive breast cancer. Cancer Treat Rev. 2014;40(7):862–71. doi: 10.1016/j.ctrv.2014.03.004 24774538

20. Hochberg Y. A sharper Bonferroni procedure for multiple tests of significance. Biometrika. 1988;75(4):800–2.

21. National Institute for Health and Care Excellence. EGFR-TK mutation testing in adults with locally advanced or metastatic non-small-cell lung cancer. Diagnostics guidance 9. London: National Institute for Health and Care Excellence; 2013. Available from: https://www.nice.org.uk/guidance/dg9.

22. Kancha RK, Peschel C, Duyster J. The epidermal growth factor receptor-L861Q mutation increases kinase activity without leading to enhanced sensitivity toward epidermal growth factor receptor kinase inhibitors. J Thorac Oncol. 2011;6(2):387–92. doi: 10.1097/JTO.0b013e3182021f3e 21252719

23. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364(26):2507–16. doi: 10.1056/NEJMoa1103782 21639808

24. Middleton M, Rasco DW, Olszanski AJ, Corrie P, Lorigan P, Plummer R, et al. First-in-human phase 1 study of MLN2480, an investigational oral pan-RAF kinase inhibitor, in patients (pts) with relapsed or refractory solid tumors, including BRAF/NRAS-mutant melanoma. Eur J Cancer. 2014;50(Suppl 6):117.

25. Lang N, Weisser A, Enk A, Hassel JC. Vemurafenib therapy for stage IV melanoma with V600G-mutation. J Dtsch Dermatol Ges. 2013;11(12):1198–9. doi: 10.1111/ddg.12200 24016000

26. McArthur GA, Chapman PB, Robert C, Larkin J, Haanen JB, Dummer R, et al. Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol. 2014;15(3):323–32. doi: 10.1016/S1470-2045(14)70012-9 24508103

27. Klein O, Clements A, Menzies AM, O’Toole S, Kefford RF, Long GV. BRAF inhibitor activity in V600R metastatic melanoma. Eur J Cancer. 2013;49(5):1073–9. doi: 10.1016/j.ejca.2012.11.004 23237741

28. Dayer LE, Hutchins LF, Johnson JT. Treatment of metastatic melanoma with pazopanib: a report of five patient cases. J Oncol Pharm Pract. 2015;21(3):224–31. doi: 10.1177/1078155214524084 24576945

29. Cho JH, Kim KM, Kwon M, Kim JH, Lee J. Nilotinib in patients with metastatic melanoma harboring KIT gene aberration. Invest New Drugs. 2012;30(5):2008–14. doi: 10.1007/s10637-011-9763-9 22068222

30. Rosell R, Carcereny E, Gervais R, Vergnenegre A, Massuti B, Felip E, et al. Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial. Lancet Oncol. 2012;13(3):239–46. doi: 10.1016/S1470-2045(11)70393-X 22285168

31. Zhou C, Wu Y-L, Chen G, Feng J, Liu X-Q, Wang C, et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol. 2011;12(8):735–42. doi: 10.1016/S1470-2045(11)70184-X 21783417

32. Fukuoka M, Wu Y-L, Thongprasert S, Sunpaweravong P, Leong S-S, Sriuranpong V, et al. Biomarker analyses and final overall survival results from a phase III, randomized, open-label, first-line study of gefitinib versus carboplatin/paclitaxel in clinically selected patients with advanced non–small-cell lung cancer in Asia (IPASS). J Clin Oncol. 2011;29(21):2866–74. doi: 10.1200/JCO.2010.33.4235 21670455

33. Pao W, Miller VA, Politi KA, Riely GJ, Somwar R, Zakowski MF, et al. Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med. 2005;2(3):e73. doi: 10.1371/journal.pmed.0020073 15737014

34. Chen Z, Feng J, Saldivar JS, Gu D, Bockholt A, Sommer SS. EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: one-third of doublets occur at five pairs of amino acids. Oncogene. 2008;27(31):4336–43. doi: 10.1038/onc.2008.71 18372921

35. Han SW, Kim TY, Hwang PG, Jeong S, Kim J, Choi IS, et al. Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib. J Clin Oncol. 2005;23(11):2493–501. doi: 10.1200/JCO.2005.01.388 15710947

36. Greulich H, Chen TH, Feng W, Janne PA, Alvarez JV, Zappaterra M, et al. Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. PLoS Med. 2005;2(11):e313. doi: 10.1371/journal.pmed.0020313 16187797

37. Avizienyte E, Ward RA, Garner AP. Comparison of the EGFR resistance mutation profiles generated by EGFR-targeted tyrosine kinase inhibitors and the impact of drug combinations. Biochem J. 2008;415(2):197–206. doi: 10.1042/BJ20080728 18588508

38. Watanabe S, Minegishi Y, Yoshizawa H, Maemondo M, Inoue A, Sugawara S, et al. Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X and L861Q. J Thorac Oncol. 2014;9(2):189–94. doi: 10.1097/JTO.0000000000000048 24419415

39. Van Cutsem E, Köhne C-H, Hitre E, Zaluski J, Chang Chien C-R, Makhson A, et al. Cetuximab and chemotherapy as initial treatment for metastatic colorectal cancer. N Engl J Med. 2009;360(14):1408–17. doi: 10.1056/NEJMoa0805019 19339720

40. Bokemeyer C, Bondarenko I, Makhson A, Hartmann JT, Aparicio J, de Braud F, et al. Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. J Clin Oncol. 2009;27(5):663–71. doi: 10.1200/JCO.2008.20.8397 19114683

41. Stintzing S, Jung A, Rossius L, Modest D, von Weikersthal LF, Decker T, et al. Analysis of KRAS/NRAS and BRAF mutations in FIRE-3: a randomized phase III study of FOLFIRI plus cetuximab or bevacizumab as first-line treatment for wild-type (WT) KRAS (exon 2) metastatic colorectal cancer (mCRC) patients. Eur J Cancer. 2013;49(Suppl 3):Abstract 17.

42. Heinrich MC, Corless CL, Blanke CD, Demetri GD, Joensuu H, Roberts PJ, et al. Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J Clin Oncol. 2006;24(29):4764–74. doi: 10.1200/JCO.2006.06.2265 16954519

43. Heinrich MC, Maki RG, Corless CL, Antonescu CR, Harlow A, Griffith D, et al. Primary and secondary kinase genotypes correlate with the biological and clinical activity of sunitinib in imatinib-resistant gastrointestinal stromal tumor. J Clin Oncol. 2008;26(33):5352–9. doi: 10.1200/JCO.2007.15.7461 18955458

44. Sato N, Saga Y, Mizukami H, Wang D, Fujiwara H, Takei Y, et al. Cetuximab inhibits the growth of mucinous ovarian carcinoma tumor cells lacking KRAS gene mutations. Oncol Rep. 2012;27(5):1336–40. doi: 10.3892/or.2012.1626 22246397

45. Casali PG, Blay JY, Bertuzzi A, Bielack S, Bjerkehagen B, Bonvalot S, et al. Gastrointestinal stromal tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2014;25:21–6.

46. Cross DA, Ashton SE, Ghiorghiu S, Eberlein C, Nebhan CA, Spitzler PJ, et al. AZD9291, an irreversible EGFR TKI, overcomes T790M-mediated resistance to EGFR inhibitors in lung cancer. Cancer Discov. 2014;4(9):1046–61. doi: 10.1158/2159-8290.CD-14-0337 24893891

47. Ponti G, Tomasi A, Pellacani G. Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. J Hematol Oncol. 2012;5:60. doi: 10.1186/1756-8722-5-60 23031422

48. Meador CB, Micheel CM, Levy MA, Lovly CM, Horn L, Warner JL, et al. Beyond histology: translating tumor genotypes into clinically effective targeted therapies. Clin Cancer Res. 2014;20(9):2264–75. doi: 10.1158/1078-0432.CCR-13-1591 24599935

49. Slamon DJ, Clark GM, Wong SG, Levin WJ, Ullrich A, McGuire WL. Human breast cancer: correlation of relapse and survival with amplification of the HER-2/neu oncogene. Science. 1987;235(4785):177–82. 3798106

50. FOCUS4. Welcome to FOCUS4. London: Medical Research Council Clinical Trials Unit; 2015 [cited 10 Jan 2017]. Available from: http://www.focus4trial.org.

51. Torjesen I. Large personalised medicine trial in lung cancer heralds new research partnership. BMJ. 2014;348:g2837. doi: 10.1136/bmj.g2837 24742663

52. Technology Strategy Board. Stratified medicines programme: tumour profiling and data capture to improve cancer care. Competition for collaborative R&D funding. London: Technology Strategy Board; 2011 Jan [cited 10 Jan 2017]. Available from: http://webarchive.nationalarchives.gov.uk/20130221185318/www.innovateuk.org/_assets/pdf/competition-documents/briefs/tsb_stratmedtumourprofilingcompetition.pdf.

53. Lennerz JK, McLaughlin HM, Baron JM, Rasmussen D, Sumbada Shin M, Berners-Lee N, et al. Health care infrastructure for financially sustainable clinical genomics. J Mol Diagn. 2016;18(5):697–706. doi: 10.1016/j.jmoldx.2016.04.003 27471182

54. Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, et al. Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis. J Clin Oncol. 2015;33(18):2084–91. doi: 10.1200/JCO.2014.59.3665 25940718

55. Yorczyk A, Robinson LS, Ross TS. Use of panel tests in place of single gene tests in the cancer genetics clinic. Clin Genet. 2015;88(3):278–82. doi: 10.1111/cge.12488 25318351

56. Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, et al. Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes. J Med Genet. 2015;52(9):575–84. doi: 10.1136/jmedgenet-2015-103270 26136524

57. Do H, Wong SQ, Li J, Dobrovic A. Reducing sequence artifacts in amplicon-based massively parallel sequencing of formalin-fixed paraffin-embedded DNA by enzymatic depletion of uracil-containing templates. Clin Chem. 2013;59(9):1376–83. doi: 10.1373/clinchem.2012.202390 23649127

58. Sankin A, Hakimi AA, Mikkilineni N, Ostrovnaya I, Silk MT, Liang Y, et al. The impact of genetic heterogeneity on biomarker development in kidney cancer assessed by multiregional sampling. Cancer Med. 2014;3(6):1485–92. doi: 10.1002/cam4.293 25124064

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