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Current Hematologic Malignancy Reports

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25.07.2019 | Molecular Testing and Diagnostics (J Khoury, Section Editor)

Liquid Biopsy by Next-Generation Sequencing: a Multimodality Test for Management of Cancer

verfasst von: Hanadi El Achi, Joseph D. Khoury, Sanam Loghavi

Erschienen in: Current Hematologic Malignancy Reports | Ausgabe 5/2019

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Abstract

Purpose of Review

While liquid biopsy is still relatively a new concept, the advent of next-generation sequencing (NGS) technologies has recently generated a revolution in the field and will be the focus of this review.

Recent Findings

Circulating tumor DNA (ctDNA) derives from tumor cells and provides information about the genetic alterations of tumors. However, ctDNA concentration in plasma can be below the level of detection by conventional methods; therefore, screening for actionable genetic information is challenging. Clinical trials exploring targeted and untargeted sequencing to improve the outcomes of ctDNA detection are showing promising results, having reached a limit of detection as low as 0.001% of ctDNA in a background of normal circulating DNA.

Summary

Most of the challenges related to the sensitivity of detection of ctDNA have been defeated by dint of NGS-based approaches. Despite all the efforts, these methods are still expensive, time-consuming, and require advanced skills for appropriate interpretation. Nevertheless, the technology is rapidly improving, and the expectations for the implementation of liquid biopsy into the clinical practice in the near future are high.

Mandel P, Metais P. Les acides nucleiques du plasma sanguin chez l’homme. C R Seances Soc Biol Fil. 1948;142:241–3 Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062042. Accessed Oct 31 2018.

Barnett EV. Detection of nuclear antigens (DNA) in normal and pathologic human fluids by quantitative complement fixation. Arthritis Rheum. 1968;11:407–17. https://doi.org/10.1002/art.1780110306.CrossRefPubMed

Davis GL, Davis JS. Detection of circulating DNA by counterimmunoelectrophoresis (CIE). Arthritis Rheum. 1973;16:52–8. https://doi.org/10.1002/art.1780160108.CrossRefPubMed

Hughes GA, I.Cohen SA, Lightfoot AW, Meltzer JI, Christian CL. The release of DNA into serum and synovial fluid. Arthritis Rheum. 1971;14:259–66. https://doi.org/10.1002/art.1780140211.CrossRefPubMed

Koffler D, Agnello V, Winchester A, Kunkel HG. The occurrence of single-stranded DNA in the serum of patients with SLE and other diseases. J Clin Invest. 1973;52:198–204. https://doi.org/10.1172/JCI107165.CrossRefPubMedPubMedCentral

Leon SA, Shapiro B, Sklaroff DM, Yaros MJ. Free DNA in the serum of cancer patients and the effect of therapy. Cancer Res. 1977;37:646–50 Published March 1977.PubMed

Stroun MS, Anker P, Maurice P, Lyautey J, Lederrey C, Beljanski M. Neoplastic characteristics of the DNA found in the plasma of cancer patients. Oncology. 1989;46:318–22. https://doi.org/10.1159/000226740.CrossRefPubMed

Vasioukhin V, Anker P, Maurice P, Lyautey J, Lederrey C, Stroun M. Point mutations of the N-ras gene in the blood plasma DNA of patients with myelodysplastic syndrome or acute myelogenous leukaemia. Br J Haematol. 1994;86(4):774–9. https://doi.org/10.1111/j.1365-2141.1994.tb04828.x.CrossRefPubMed

Nawroz H, Koch W, Anker P, Stroun M, Sidransky D. Microsatellite alterations in serum DNA of head and neck cancer patients. Nat Med. 1996;2:1035–7. https://doi.org/10.1038/nm0996-1035.CrossRefPubMed

10.

Diehl F, Li M, Dressman D, He Y, Dong S, Szabo S, et al. Detection and quantification of mutations in the plasma of patients with colorectal tumors. PNAS. 2005;102(45):16368–73. https://doi.org/10.1073/pnas.0507904102.CrossRefPubMedPubMedCentral

11.

Thierry AR, Mouliere F, El Messaoudi S, Mollevi C, Lopez-Crapez E, Rolet F, et al. Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nat Med. 2014;20(4):430–5. https://doi.org/10.1038/nm.3511.CrossRefPubMed

12.

Balaji SA, Shanmugam A, Chougule A, Sridharan S, Prabhash K. Analysis of solid tumor mutation profiles in liquid biopsy. Cancer Med. 2018;7:1–9. https://doi.org/10.1002/cam4.1791.CrossRef

13.

Arneth B. Update on the types and usage of liquid biopsies in the clinical setting: a systematic review. BMC Cancer. 2018;18:527. https://doi.org/10.1186/s12885-018-4433-3.CrossRefPubMedPubMedCentral

14.

Gerlinger M, Rowan AJ, Horswell S, Math M, Larkin J, Endesfelder D, et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med. 2012;366:883–92. https://doi.org/10.1056/NEJMoa1113205.CrossRefPubMedPubMedCentral

15.

Robertson EG, Baxter G. Tumour seeding following percutaneous needle biopsy: the real story! Clin Radiol. 2011;66:1007–14. https://doi.org/10.1016/j.crad.2011.05.012.CrossRefPubMed

16.

Khoury JD, Catenacci DV. Next-generation companion diagnostics: promises, challenges, and solutions. Arch Pathol Lab Med. 2015;139(1):11–3. https://doi.org/10.5858/arpa.2014-0063-ED.CrossRefPubMedPubMedCentral

17.

Khoury JD. The evolving potential of companion diagnostics. Scand J Clin Lab Investig Suppl. 2016;245:S22–5. https://doi.org/10.1080/00365513.2016.1206444.CrossRef

18.

Siravegna G, Marsoni S, Siena S, Bardelli A. Integrating liquid biopsies into the management of cancer. Nat Rev Clin Oncol. 2017;14:531–48. https://doi.org/10.1038/nrclinonc.2017.14.CrossRefPubMed

19.

• Abramson R. Overview of targeted therapies for cancer. My Cancer Genome. 2018. https://www.mycancergenome.org/content/molecular-medicine/overview-of-targeted-therapies-for-cancer. Accessed Jan 2019. All available targeted therapy for liquid and solid tumors.

20.

Milbury CA, Li J, Makrigiorgos GM. PCR-based methods for the enrichment of minority alleles and mutations. Clin Chem. 2009;55(4):632–40. https://doi.org/10.1373/clinchem.2008.113035.CrossRefPubMedPubMedCentral

21.

Nair N, Camacho-Vanegas O, Rykunov D, Dashkoff M, Camacho SC, et al. Genomic analysis of uterine lavage fluid detects early endometrial cancers and reveals a prevalent landscape of driver mutations in women without histopathologic evidence of cancer: a prospective cross-sectional study. PLoS Med. 2016;13:e1002206. https://doi.org/10.1371/journal.pmed.1002206.CrossRefPubMedPubMedCentral

22.

Lehmann-Werman R, Neiman D, Zemmour H, Moss J, Magenheim J, Vaknin-Dembinsky A, et al. Identification of tissue-specific cell death using methylation patterns of circulating DNA. Proc Natl Acad Sci U S A. 2016;113:E1826–34. https://doi.org/10.1073/pnas.1519286113.CrossRefPubMedPubMedCentral

23.

•• Bettegowda C, Sausen M, Leary RJ, 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. https://doi.org/10.1126/scitranslmed.3007094Included high number of patients and demonstrated the presence of ctDNA in early stages cancer disease. CrossRefPubMedPubMedCentral

24.

VanderLaan PA, Yamaguchi N, Folch E, Boucher DH, Kent MS, Gangadharan SP, et al. Success and failure rates of tumor genotyping techniques in routine pathological samples with non-small-cell lung cancer. Lung Cancer. 2014;84:39–44. https://doi.org/10.1016/j.lungcan.2014.01.013.CrossRefPubMed

25.

Lee DK, Park JH, Kim JH, Lee SJ, Jo MK, Gil MC, et al. Progression of prostate cancer despite an extremely low serum level of prostate-specific antigen. Korean J Radiol. 2010;51:358–61. https://doi.org/10.4111/kju.2010.51.5.358.CrossRef

26.

Bryce AH, Alumkal JJ, Armstrong A, Higan CS, et al. Radiographic progression with nonrising psa in metastatic castration-resistant prostate cancer: post hoc analysis of prevail. Prostate Cancer Prostatic Dis. 2017;20:221–7. https://doi.org/10.1038/pcan.2016.71.CrossRefPubMedPubMedCentral

27.

Sorensen BS, Wu L, Wei W, Tsai J, Weber B, Nexo E, et al. Monitoring of epidermal growth factor receptor tyrosine kinase inhibitor-sensitizing and resistance mutations in the plasma DNA of patients with advanced non-small cell lung cancer during treatment with erlotinib. Cancer. 2014;120:3896–901. https://doi.org/10.1002/cncr.28964.CrossRefPubMed

28.

Oxnard GR, Paweletz CP, Kuang Y, Mach SL, O’Connell A, Messineo MM, et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next generation genotyping of cell-free plasma DNA. Clin Cancer Res. 2014;20:1698–705. https://doi.org/10.1158/1078-0432.CCR-13-2482.CrossRefPubMedPubMedCentral

29.

Tie J, Wang Y, Tomasetti C, Li L, Springer S, Kinde I, et al. Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stage ii colon cancer. Sci Transl Med. 2016;8:346ra392. https://doi.org/10.1126/scitranslmed.aaf6219.CrossRef

30.

Wan JCM, Massie C, Garcia-Corbacho J, Mouliere F, Brenton JD, Caldas C, et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer. 2017;17:223–38. https://doi.org/10.1038/nrc.2017.7.CrossRefPubMed

31.

Heitzer E, Ulz P, Geigl JB. Circulating tumor DNA as a liquid biopsy for cancer. Clin Chem. 2015;61:112–23. https://doi.org/10.1373/clinchem.2014.222679.CrossRefPubMed

32.

Alix-Panabieres C, Pantel K. Challenges in circulating tumour cell research. Nat Rev Cancer. 2014;14:623–31. https://doi.org/10.1038/nrc3820.CrossRefPubMed

33.

Alix-Panabieres C, Pantel K. Clinical applications of circulating tumor cells and circulating tumor DNA as liquid biopsy. Cancer Discov. 2016;6:479–91. https://doi.org/10.1158/2159-8290.CD-15-1483.CrossRefPubMed

34.

Bardelli A, Pantel K. Liquid biopsies, what we do not know (yet). Cancer Cell. 2017;31:172–9. https://doi.org/10.1016/j.ccell.2017.01.002.CrossRefPubMed

35.

Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11:426–37. https://doi.org/10.1038/nrc3066.CrossRefPubMed

36.

Fettke H, Kwan EM, Azad AA. Cell-free DNA in cancer: current insights. Cell Oncol (Dordr). 2019;42(1):13–28. https://doi.org/10.1007/s13402-018-0413-5.CrossRef

37.

Khoury JD, Adcock DM, Chan F, Symanowski JT, Tiefenbacher S, Goodman O. Increases in quantitative D-dimer levels correlate with progressive disease better than circulating tumor cell counts in patients with refractory prostate cancer. Am J Clin Pathol. 2010;134(6):964–9. https://doi.org/10.1309/AJCPH92SXYLIKKTS.CrossRefPubMed

38.

Heitzer E, Auer M, Hoffmann EM, Pichler M, et al. Establishment of tumor-specific copy number alterations from plasma DNA of patients with cancer. Int J Cancer. 2013;133:346–57. https://doi.org/10.1002/ijc.28030.CrossRefPubMedPubMedCentral

39.

Schmiegel W, Scott RJ, Dooley S, Lewis W, Meldrum CJ, Pockney P, et al. Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients: concordance of results from circulating tumor DNA and tissue-based RAS testing. Mol Oncol. 2017;11:208–19. https://doi.org/10.1002/1878-0261.12023.CrossRefPubMedPubMedCentral

40.

• Cobas EGFR. Mutation test v2. 2016. http://www.fda.gov/Drugs/InformationOnDrugs/ApprovedDrugs/ucm504540.htm. Accessed Jan 2019. The first liquid biopsy assay approved by the FDA.

41.

Schieszer J. FDA approves blood-based colorectal cancer test. 2016. https://www.oncotherapynetwork.com/colorectal-cancer/fda-approves-blood-based-colorectal-cancer-test. Accessed Jan 2019.

42.

Church TR, Wandell M, Lofton-Day C, PRESEPT Clinical Study Steering Committee, Investigators and Study Team, et al. Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer. Gut. 2014;63(2):317–25.CrossRefPubMed

43.

Preventive Services Task Force US, Bibbins-Domingo K, Grossman DC, et al. Screening for colorectal cancer: US Preventive Services Task Force recommendation statement. JAMA. 2016;315(23):2564–75. https://doi.org/10.1001/jama.2016.5989.CrossRef

44.

Bo F, Yan P, Zhang S, Lu Y, Pan L, Tang W, et al. Cell-free circulating methylated SEPT9 for noninvasive diagnosis and monitoring of colorectal cancer. Dis Markers. 2018;2018:6437104. https://doi.org/10.1155/2018/6437104.CrossRef

45.

Atamaniuk J, Vidotto C, Kinzlbauer M, Bachl N, Tiran B, Tschan H. Cell-free plasma DNA and purine nucleotide degradation markers following weightlifting exercise. Eur J Appl Physiol. 2010;110(4):695–701. https://doi.org/10.1007/s00421-010-1532-5.CrossRefPubMed

46.

Barngit E. Detection of nuclear antigens (DNA) in normal and pathologic human fluids by quantitative complement fixation. Arthritis Rheum. 1968;11(3). https://doi.org/10.1002/art.1780110306.CrossRef

47.

Yu SCY, Shara WY, Lee PJ, Leung TY, Chan KCA, Chiu RWK, et al. High-resolution profiling of fetal DNA clearance from maternal plasma by massively parallel sequencing. Clin Chem. 2013;59:81228–37. https://doi.org/10.1373/clinchem.2013.203679.CrossRef

48.

Diaz LA Jr, Bardelli A. Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol. 2014;32(6):579–86. https://doi.org/10.1200/JCO.2012.45.2011.CrossRefPubMedPubMedCentral

49.

Haber DA, Velculescu VE. Blood-based analyses of cancer: circulating tumor cells and circulating tumor DNA. Cancer Discov. 2014;4(6):650–61. https://doi.org/10.1158/2159-8290.CD-13-1014.CrossRefPubMedPubMedCentral

50.

Paweletz CP. Bias-corrected targeted next-generation sequencing for rapid, multiplexed detection of actionable alterations in cell-free DNA from advanced lung cancer patients. Clin Cancer Res. 2016;22(4):915–22. https://doi.org/10.1158/1078-0432.CCR-15-1627-T.CrossRefPubMed

51.

Thierry AR, Mouliere F, Gongora C, Ollier J, Robert B, Ychou M, et al. Origin and quantification of circulating DNA in mice with human colorectal cancer xenografts. Nucleic Acids Res. 2010;38(18):6159–75. https://doi.org/10.1093/nar/gkq421.CrossRefPubMedPubMedCentral

52.

Forshew T, Murtaza M, Parkinson C, Gale D, Tsui DWY, Kaper F, et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci Transl Med. 2012;4(136):136ra68. https://doi.org/10.1126/scitranslmed.3003726.CrossRefPubMed

53.

Gale D, Plagnol V, Lawson A, Pugh M, Smalley S, Howarth K, et al. Abstract 3639: Analytical performance and validation of an enhanced TAm-Seq circulating tumor DNA sequencing assay. Cancer Res. American Association for Cancer Research. 2016;76:3639±3639. https://doi.org/10.1371/journal.pone.0193802 CrossRefPubMedPubMedCentral

54.

Plagnol V, Woodhouse S, Howarth K, Lensing S, Smith M, Epstein M, et al. Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. PLoS One. 2018;13(3):e0193802. https://doi.org/10.1371/journal.pone.0193802.CrossRefPubMedPubMedCentral

55.

Ties J, Kinde I, Wang Y. Circulating tumor DNA as an early marker of therapeutic response in patients with metastatic colorectal cancer. Ann Oncol. 2015;26:1715–22. https://doi.org/10.1093/annonc/mdv177.CrossRef

56.

Fredebohm J, Mehnert DH, Löber AK, Holtrup F, van Rahden V, Angenendt P, et al. Detection and quantification of KIT mutations in ctDNA by plasma safe-SeqS. Adv Exp Med Biol. 2016;924:187–9. https://doi.org/10.1007/978-3-319-42044-8_34.CrossRefPubMed

57.

Newman AM, Bratman SV, Jacqueline To. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med. 2014;20(5):548–54. https://doi.org/10.1038/nbt.3520.CrossRefPubMedPubMedCentral

58.

Newman AM, Lovejoy AF, Klass DM. Integrated digital error suppression for improved detection of circulating tumor DNA. Nat Biotechnol. 2016;34(5):547–55. https://doi.org/10.1038/nbt.3520.CrossRefPubMedPubMedCentral

59.

Lanman RB, Mortimer SA, Zill OA. Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cell-free circulating tumor DNA. PLoS One. 2015;10(10):e0140712. https://doi.org/10.1371/journal.pone.0140712.CrossRefPubMedPubMedCentral

60.

Wen L, Li J, Guo H, Liu X, Zheng S, Zhang D, et al. Genome-scale detection of hypermethylated CpG islands in circulating cell-free DNA of hepatocellular carcinoma patients. Cell Res. 2015;25:1250–64. https://doi.org/10.1038/cr.2015.126.CrossRefPubMedPubMedCentral

61.

Han X, Wang J, Sun Y. Circulating tumor DNA as biomarkers for cancer detection. Genomics Proteomics Bioinformatics. 2017;15:59–72. https://doi.org/10.1016/j.gpb.2016.12.004.CrossRefPubMedPubMedCentral

62.

Vnencak-Jones C, Berger M, Pao W. Types of molecular tumor testing. My Cancer Genome. 2016. https://www.mycancergenome.org/content/molecular-medicine/types-of-molecular-tumor-testing. Accessed March 2019.

63.

Heitzer E, Ulz P, Belic J. Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing. Genome Med. 2013;5:30. https://doi.org/10.1186/gm434.CrossRefPubMedPubMedCentral

64.

Leary RJ, Sausen M, Kinde I. Detection of chromosomal alterations in the circulation of cancer patients with whole-genome sequencing. Sci Transl Med. 2012;4(162):162ra154. https://doi.org/10.1126/scitranslmed.3004742.CrossRefPubMedPubMedCentral

65.

Gai W, Sun K. Epigenetic biomarkers in cell-free DNA and applications in liquid biopsy. Genes. 2019;10:32. https://doi.org/10.3390/genes10010032.CrossRefPubMedCentral

66.

Salani R, Chang C-L, Cope L, Wang T-L. Digital karyotyping: an update of its applications in cancer. Mol Diagn Ther. 2006;10:231–7. https://doi.org/10.1007/BF03256461.CrossRefPubMed

67.

Belic J. Rapid identification of plasma DNA samples with increased ctDNA levels by a modified FAST-SeqS approach. Clin Chem. 2015;61(6):838–49. https://doi.org/10.1373/clinchem.2014.234286.CrossRefPubMed

68.

Tsiatis AC, Norris-Kirby A, Rich RG, Hafez MJ, Gocke CD, Eshleman JR, et al. Comparison of Sanger sequencing, pyrosequencing, and melting curve analysis for the detection of KRAS mutations diagnostic and clinical implications. J Mol Diagn. 2010;12(4):425–32. https://doi.org/10.2353/jmoldx.2010.090188.CrossRefPubMedPubMedCentral

69.

•• Butler TM, Johnson-Camacho K, Peto M, Wang NJ, Macey TA, Korkola JE, et al. Exome sequencing of cell-free DNA from metastatic cancer patients identifies clinically actionable mutations distinct from primary disease. PLoS One. 2018;10(8):e0136407. https://doi.org/10.1371/journal.pone.0136407cfDNA can detect clinically actionable mutations previously not identified in the primary disease, highlighting the heterogeneity of tumors and emphasizing the importance of liquid biopsy. CrossRef

70.

Shao D, Lin Y, Liu J, Liang W, et al. A targeted next-generation sequencing method for identifying clinically relevant mutation profiles in lung adenocarcinoma. Sci Rep. 2016;6:22338. https://doi.org/10.1038/srep22338.CrossRefPubMedPubMedCentral

71.

Adalsteinsson VA, Gavin HA, Freeman SS. Scalable whole-exome sequencing of cell-free DNA reveals high concordance with metastatic tumors. Nat Commun. 8:1324. https://doi.org/10.1038/s41467-017-00965-y.

72.

Samorodnitsky E, Jewell BM, Hagopian R, Miya J, Wing MR, Lyon E, et al. Evaluation of hybridization capture versus amplicon-based methods for whole-exome sequencing. Hum Mutat. 2015;36(9):903–15. https://doi.org/10.1002/humu.22825.CrossRefPubMedPubMedCentral

73.

• Kou R, Lam H, Duan H, Ye L. Benefits and challenges with applying unique molecular identifiers in next generation sequencing to detect low frequency mutations. PLoS One. 2016;11(1):e0146638. https://doi.org/10.1371/journal.pone.0146638Elucidate the way the unique identifier barcodes will eliminate the PCR biases to improve the sequencing accuracy. CrossRefPubMedPubMedCentral

74.

Kwapisz D. The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer? Ann Transl Med. 2017;5(3):46. https://doi.org/10.21037/atm.2017.01.32.CrossRefPubMedPubMedCentral

75.

Yam I, Lam DC, Chan K, et al. EGFR array: uses in the detection of plasma EGFR mutations in non-small cell lung cancer patients. J Thorac Oncol. 2012;7:1131–40. https://doi.org/10.1097/JTO.0b013e3182558198.CrossRefPubMed

76.

Sequist LV, Waltman BA, Dias-Santagata D, et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med. 2011;3:75ra26. https://doi.org/10.1126/scitranslmed.3002003.CrossRefPubMedPubMedCentral

77.

Yu HA, Arcila ME, Rekhtman N, Sima CS, Zakowski MF, Pao W, et al. Analysis of tumor specimens at the time of acquired resistance to EGFR-TKI therapy in 155 patients with EGFR-mutant lung cancers. Clin Cancer Res. 2013;19:2240–7. https://doi.org/10.1158/1078-0432.CCR-12-2246.CrossRefPubMedPubMedCentral

78.

Ninomiya K, Ohashi K, Makimoto G, Tomida S, Higo H, Kayatani H, et al. MET or NRAS amplification is an acquired resistance mechanism to the third-generation EGFR inhibitor naquotinib. Sci Rep. 2018;8:1955. https://doi.org/10.1038/s41598-018-20326-z.CrossRefPubMedPubMedCentral

79.

Iwama E, Sakai K, Azuma K. Exploration of resistance mechanisms for epidermal growth factor receptor-tyrosine kinase inhibitors based on plasma analysis by digital polymerase chain reaction and next-generation sequencing. Cancer Sci. 2018;109:3921–33. https://doi.org/10.1111/cas.13820.CrossRefPubMedPubMedCentral

80.

Kinde I, Wu J, Papadopoulos N, Kinzler KW, Vogelstein B. Detection and quantification of rare mutations with massively parallel sequencing. Proc Natl Acad Sci U S A. 2011;108(23):9530–5. https://doi.org/10.1073/pnas.1105422108.CrossRefPubMedPubMedCentral

81.

Suzuki M, Shiraishi K, Eguchi A, et al. Aberrant methylation of LINE-1, SLIT2, MAL and IGFBP7 in non-small cell lung cancer. Oncol Rep. 2013;29:1308–14. https://doi.org/10.3892/or.2013.2266.CrossRefPubMedPubMedCentral

82.

Tan L, Shi YG. Tet family proteins and 5-hydroxymethylcytosine in development and disease. Development. 2012;139(11):1895–902. https://doi.org/10.1242/dev.070771.CrossRefPubMedPubMedCentral

83.

Tanaka K, Okamoto A. Degradation of DNA by bisulfite treatment. Bioorg Med Chem Lett. 2007;17(7):1912–5. https://doi.org/10.1016/j.bmcl.2007.01.040.CrossRefPubMed

84.

Meléndez B, Van Campenhout C, Rorive S, Remmelink M, Salmon I, D’Haene N. Methods of measurement for tumor mutational burden in tumor tissue. Transl Lung Cancer Res. 2018;7(6):661–7. https://doi.org/10.21037/tlcr.2018.08.02.CrossRefPubMedPubMedCentral

85.

Fenizia F, Pasquale R, Roma C, Bergantino F, Iannaccone A, Normanno N. Measuring tumor mutation burden in non-small cell lung cancer: tissue versus liquid biopsy. Transl Lung Cancer Res. 2018;7(6):668–77. https://doi.org/10.21037/tlcr.2018.09.23.CrossRefPubMedPubMedCentral

86.

Chalmers ZR, Connelly CF, Fabrizio D, Gay L, Ali SM, Ennis R, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9:34. https://doi.org/10.1186/s13073-017-0424-2.CrossRefPubMedPubMedCentral

87.

Koeppel F, Blanchard S, Jovelet C, Genin B, Marcaillou C, Martin E, et al. Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients. PLoS One. 2017;12:e0188174. https://doi.org/10.1371/journal.pone.0188174.CrossRefPubMedPubMedCentral

88.

Chaudhuri AA, Chabon JJ, Alexander F. Lovejoy early detection of molecular residual disease in localized lung cancer by circulating tumor DNA profiling. Cancer Discov. 2017;7(12):1394–403. https://doi.org/10.1158/2159-8290.CD-17-0716.CrossRefPubMedPubMedCentral

89.

Fabrizio D, Malboeuf C, Lieber D, et al. A blood-based next generation sequencing assay to determine tumor mutational burden (bTMB) is associated with benefit to an anti-PD-L1 inhibitor, atezolizumab. Cancer Res. 2018;78:Abstract nr 5706.CrossRef

90.

Cohen JD, Li L, Wang Y, Thoburn C, Afsari B, Danilova L, et al. Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. 2018;359(6378):926–30. https://doi.org/10.1126/science.aar3247.CrossRefPubMedPubMedCentral

91.

Liu MC, Maddala T, Aravanis A, et al. Breast cancer cell-free DNA (cfDNA) profiles reflect underlying tumor biology: the Circulating Cell-Free Genome Atlas (CCGA) study. Presented at: ASCO Annual Meeting 2018, IL, USA. 2018: Abstract nr 536.

Titel: Liquid Biopsy by Next-Generation Sequencing: a Multimodality Test for Management of Cancer
verfasst von: Hanadi El Achi
Joseph D. Khoury
Sanam Loghavi
Publikationsdatum: 25.07.2019
Verlag: Springer US
Erschienen in: Current Hematologic Malignancy Reports / Ausgabe 5/2019
Print ISSN: 1558-8211
Elektronische ISSN: 1558-822X
DOI: https://doi.org/10.1007/s11899-019-00532-w

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Update Onkologie