Liquid biopsy in lung cancer: A perspective from members of the pulmonary pathology society

Archives of Pathology and Laboratory Medicine

Volumn 140, Issue 8, 2016, Pages 825-829

  Sholl, Lynette M ^a   Aisner, Dara L ^b   Allen, Timothy Craig ^c   Beasley, Mary Beth ^d   Cagle, Philip T ^e   Capelozzi, Vera L ^f   Dacic, Sanja ^g   Hariri, Lida P ^h   Kerr, Keith M ^j   Lantuejoul, Sylvie ^k,l   Mino Kenudson, Mari ⁱ   Raparia, Kirtee ^m   Rekhtman, Natasha ⁿ   Roy Chowdhuri, Sinchita ^o   Thunnissen, Eric ^p   Tsao, Ming ^q   Vivero, Marina ^a   Yatabe, Yasushi ^r  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b UNIVERSITY OF COLORADO CANCER CENTER   (United States)

^c University of Texas Medical Branch School of Medicine   (United States)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e WEILL CORNELL MEDICAL COLLEGE   (United States)

^f HOUSTON METHODIST HOSPITAL   (United States)

^g UNIVERSITY OF SÃO PAULO   (Brazil)

^h UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j UNIVERSITY OF ABERDEEN   (United Kingdom)

^k CENTRE LÉON BÉRARD   (France)

^l UNIV GRENOBLE ALPES   (France)

^m NORTHWESTERN UNIVERSITY   (United States)

ⁿ MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^o UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^p VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^q PRINCESS MARGARET HOSPITAL   (Canada)

^r AICHI CANCER CENTER HOSPITAL   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TUMOR MARKER;

BLOOD; GENETIC PREDISPOSITION; GENETICS; HUMAN; ISOLATION AND PURIFICATION; LUNG NEOPLASMS; METABOLISM; MUTATION; PATHOLOGY; SENSITIVITY AND SPECIFICITY; TUMOR EMBOLISM;

BIOMARKERS, TUMOR; DNA, NEOPLASM; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LUNG NEOPLASMS; MUTATION; NEOPLASTIC CELLS, CIRCULATING; SENSITIVITY AND SPECIFICITY;

EID: 84980332141     PISSN: 00039985     EISSN: 15432165     Source Type: Journal    
DOI: 10.5858/arpa.2016-0163-SA     Document Type: Review

References (54)

1. Edwards BK, Noone AM, Mariotto AB, et al. Annual report to the nation on the status of cancer, 1975-2010, featuring prevalence of comorbidity and impact on survival among persons with lung, colorectal, breast, or prostate cancer. Cancer. 2014;120(9):1290-1314.
2. Fox M. Company bets on catching cancer with a ''liquid biopsy.'' NBC News Web site. http://www.nbcnews.com/health/cancer/company-betscatching-cancer-liquid-biopsy-n493711. Published January 10, 2016. Accessed March 28, 2016.
3. Blood test giving false sense of security about cancer risk? CBS This Morning. February 9, 2016. http://www.cbsnews.com/news/cbs-newsinvestigation-pathway-genomics-cancer-liquid-biopsy-cancerintercept/. Accessed March 28, 2016.
4. Standaert M. Liquid biopsy: fast DNA-sequencing machines are leading to simple blood tests for cancer. MIT Technology Review Web site. https://www.technologyreview.com/s/534991/liquid-biopsy/. Accessed March 28, 2016.
5. Ilie M, Hofman V, Long E, et al. Current challenges for detection of circulating tumor cells and cell-free circulating nucleic acids, and their characterization in non-small cell lung carcinoma patients: what is the best blood substrate for personalized medicine? Ann Transl Med. 2014;2(11):107.
6. Diaz LA Jr, Williams RT, Wu J, et al. The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers. Nature. 2012; 486(7404):537-540.
7. Francis G, Stein S. Circulating cell-free tumour DNA in the management of cancer. Int J Mol Sci. 2015;16(6):14122-14142.
8. Hyman DM, Diamond EL, Vibat CR, et al. Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. Cancer Discov. 2015;5(1):64-71.
9. Wei F, Lin CC, Joon A, et al. Noninvasive saliva-based EGFR gene mutation detection in patients with lung cancer. Am J Respir Crit Care Med. 2014;190(10): 1117-1126.
10. Lo YM, Chan KC, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010;2(61):61ra91.
11. Yu SC, Chan KC, Zheng YW, et al. Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing. Proc Natl Acad Sci U S A. 2014; 111(23):8583-8588.
12. Jiang P, Chan CW, Chan KC, et al. Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients. Proc Natl Acad Sci U S A. 2015; 112(11):E1317-E1325.
13. Mouliere F, Robert B, Arnau Peyrotte E, et al. High fragmentation characterizes tumour-derived circulating DNA. PLoS One. 2011;6(9):e23418.
14. Wang BG, Huang HY, Chen YC, et al. Increased plasma DNA integrity in cancer patients. Cancer Res. 2003;63(14):3966-3968.
15. Schwarzenbach H, Hoon DS, Pantel K. Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer. 2011;11(6):426-437.
16. Bettegowda C, Sausen M, Leary RJ, et al. Detection of circulating tumor DNA in early-and late-stage human malignancies. Sci Transl Med. 2014;6(224): 224ra24.
17. Oxnard GR, Paweletz CP, Kuang Y, et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative nextgeneration genotyping of cell-free plasma DNA. Clin Cancer Res. 2014;20(6): 1698-1705.
18. Lanman RB, Mortimer SA, Zill OA, et al. Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cellfree circulating tumor DNA. PLoS One. 2015;10(10):e0140712.
19. Paweletz CP, Sacher AG, Raymond CK, et al. Bias-corrected targeted nextgeneration sequencing for rapid, multiplexed detection of actionable alterations in cell-free DNA from advanced lung cancer patients. Clin Cancer Res. 2016; 22(4):915-922.
20. Silva J, Garcia V, Rodriguez M, et al. Analysis of exosome release and its prognostic value in human colorectal cancer. Genes Chromosomes Cancer. 2012;51(4):409-418.
21. Nilsson RJ, Karachaliou N, Berenguer J, et al. Rearranged EML4-ALK fusion transcripts sequester in circulating blood platelets and enable blood-based crizotinib response monitoring in non-small-cell lung cancer. Oncotarget. 2016; 7(1):1066-1075.
22. Arroyo JD, Chevillet JR, Kroh EM, et al. Argonaute2 complexes carry a population of circulating microRNAs independent of vesicles in human plasma. Proc Natl Acad Sci U S A. 2011;108(12):5003-5008.
23. Yanaihara N, Caplen N, Bowman E, et al. Unique microRNA molecular profiles in lung cancer diagnosis and prognosis. Cancer Cell. 2006;9(3):189-198.
24. Cazzoli R, Buttitta F, Di Nicola M, et al. microRNAs derived from circulating exosomes as noninvasive biomarkers for screening and diagnosing lung cancer. J Thorac Oncol. 2013;8(9):1156-1162.
25. Shih CL, Luo JD, Chang JW, et al. Circulating messenger RNA profiling with microarray and next-generation sequencing: cross-platform comparison. Cancer Genomics Proteomics. 2015;12(5):223-230.
26. Kim MY, Oskarsson T, Acharyya S, et al. Tumor self-seeding by circulating cancer cells. Cell. 2009;139(7):1315-1326.
27. Yap TA, Lorente D, Omlin A, Olmos D, de Bono JS. Circulating tumor cells: a multifunctional biomarker. Clin Cancer Res. 2014;20(10):2553-2568.
28. Cristofanilli M, Budd GT, Ellis MJ, et al. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med. 2004;351(8): 781-791.
29. Cohen SJ, Punt CJ, Iannotti N, et al. Relationship of circulating tumor cells to tumor response, progression-free survival, and overall survival in patients with metastatic colorectal cancer. J Clin Oncol. 2008;26(19):3213-3221.
30. Hou JM, Krebs MG, Lancashire L, et al. Clinical significance and molecular characteristics of circulating tumor cells and circulating tumor microemboli in patients with small-cell lung cancer. J Clin Oncol. 2012;30(5):525-532.
31. Krebs MG, Sloane R, Priest L, et al. Evaluation and prognostic significance of circulating tumor cells in patients with non-small-cell lung cancer. J Clin Oncol. 2011;29(12):1556-1563.
32. Krebs MG, Metcalf RL, Carter L, Brady G, Blackhall FH, Dive C. Molecular analysis of circulating tumour cells-biology and biomarkers. Nat Rev Clin Oncol. 2014;11(3):129-144.
33. Hofman V, Bonnetaud C, Ilie MI, et al. Preoperative circulating tumor cell detection using the isolation by size of epithelial tumor cell method for patients with lung cancer is a new prognostic biomarker. Clin Cancer Res. 2011;17(4): 827-835.
34. Gorges TM, Penkalla N, Schalk T, et al. Enumeration and molecular characterization of tumor cells in lung cancer patients using a novel in vivo device for capturing circulating tumor cells. Clin Cancer Res. 2016;22(9):2197-2206.
35. Mazel M, Jacot W, Pantel K, et al. Frequent expression of PD-L1 on circulating breast cancer cells. Mol Oncol. 2015;9(9):1773-1782.
36. Ilie M, Long E, Butori C, et al. ALK-gene rearrangement: a comparative analysis on circulating tumour cells and tumour tissue from patients with lung adenocarcinoma. Ann Oncol. 2012;23(11):2907-2913.
37. Jiang R, Lu YT, Ho H, et al. A comparison of isolated circulating tumor cells and tissue biopsies using whole-genome sequencing in prostate cancer. Oncotarget. 2015;6(42):44781-44793.
38. 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(8):897-903.
39. Parkinson DR, Dracopoli N, Petty BG, et al. Considerations in the development of circulating tumor cell technology for clinical use. J Transl Med. 2012;10:138.
40. Sundaresan TK, Sequist LV, Heymach JV, et al. Detection of T790M, the acquired resistance EGFR mutation, by tumor biopsy versus noninvasive bloodbased analyses. Clin Cancer Res. 2016;22(5):1103-1110.
41. Mok T, Wu YL, Lee JS, et al. Detection and dynamic changes of EGFR mutations from circulating tumor DNA as a predictor of survival outcomes in NSCLC patients treated with first-line intercalated erlotinib and chemotherapy. Clin Cancer Res. 2015;21(14):3196-3203.
42. Lee JY, Qing X, Xiumin W, et al. Longitudinal monitoring of EGFR mutations in plasma predicts outcomes of NSCLC patients treated with EGFR TKIs: Korean lung cancer consortium (KLCC-12-02). Oncotarget. 2016;7(6): 6984-6993.
43. 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(75):75ra26.
44. Janne PA, Yang JC, Kim DW, et al. AZD9291 in EGFR inhibitor-resistant non-small-cell lung cancer. N Engl J Med. 2015;372(18):1689-1699.
45. Sequist LV, Soria JC, Goldman JW, et al. Rociletinib in EGFR-mutated nonsmall-cell lung cancer. N Engl J Med. 2015;372(18):1700-1709.
46. FDA approves new pill to treat certain patients with non-small cell lung cancer [news release]. US Food and Drug Administration Web site. http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm472525.htm. Published November 13, 2015. Accessed March 28, 2016.
47. Sacher AG, Paweletz C, Dahlberg SE, et al. Prospective validation of rapid plasma genotyping detection of epidermal growth factor receptor mutations and acquired resistance mutations in lung cancer [published online ahead of print April 7, 2016]. JAMA Oncol. doi:10.1001/jamaoncol.2016.0173.
48. Bai H, Mao L, Wang HS, et al. Epidermal growth factor receptor mutations in plasma DNA samples predict tumor response in Chinese patients with stages IIIB to IV non-small-cell lung cancer. J Clin Oncol. 2009;27(16):2653-2659.
49. Kimura H, Suminoe M, Kasahara K, et al. Evaluation of epidermal growth factor receptor mutation status in serum DNA as a predictor of response to gefitinib (IRESSA). Br J Cancer. 2007;97(6):778-784.
50. Goto K, Ichinose Y, Ohe Y, et al. Epidermal growth factor receptor mutation status in circulating free DNA in serum: from IPASS, a phase III study of gefitinib or carboplatin/paclitaxel in non-small cell lung cancer. J Thorac Oncol. 2012; 7(1):115-121.
51. Douillard JY, Ostoros G, Cobo M, et al. Gefitinib treatment in EGFR mutated Caucasian NSCLC: circulating-free tumor DNA as a surrogate for determination of EGFR status. J Thorac Oncol. 2014;9(9):1345-1353.
52. Kim HR, Lee SY, Hyun DS, et al. Detection of EGFR mutations in circulating free DNA by PNA-mediated PCR clamping. J Exp Clin Cancer Res. 2013;32(1):50.
53. Couraud S, Vaca-Paniagua F, Villar 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. 2014;20(17):4613-4624.
54. Newman AM, Bratman SV, To J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med. 2014; 20(5):548-554.