Role of Circulating Tumor Cells and Cell-Free Tumor Deoxyribonucleic Acid Fragments as Liquid Biopsy Materials in Breast Oncology
Role of Circulating Tumor Cells and Cell-Free Tumor Deoxyribonucleic Acid Fragments as Liquid Biopsy Materials in Breast Oncology
Breast cancer is the most commonly diagnosed type of cancer among females worldwide. It is also the leading cause of female cancer-related death in developing countries. Though novel biomarkers and new strategies for diagnosis, monitoring course of disease, and treatment of breast cancer have been found, these methods are invasive, costly, labor-intensive, and inadequate to fully gauge treatment response and disease recurrence. Therefore, novel biomarkers with greater sensitivity and specificity, and which are easy to perform are needed in breast cancer oncology. There is growing interest in the potential use of circulating tumor cells and circulating tumor deoxyribonucleic acid fragments in liquid biopsy as non-invasive biopsy materials for early detection of breast cancer, monitoring disease progression, and understanding reasons for treatment resistance. This review is a discussion of current status of utilization of these liquid biopsy materials in breast oncology
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- 1. Torre LA, Bray F, Siegel RL, Ferlay J, Lortet-Tieulent J, Jemal A. Global cancer statistics, 2012. CA: A Cancer Journal for Clinicians 2015;65(2):87-108.
- 2. Özmen V. Breast cancer in the world and Turkey. J Breast Health 2008;4(2).
- 3. Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: A practical perspective. Clin Biochem Rev 2011;32(4):177-95.
- 4. Housman G, Byler S, Heerboth S, Lapinska K, Longacre M, Snyder N, et al. Drug resistance in cancer: An overview. Cancers 2014;6(3):1769-92.
- 5. Duffy MJ, Evoy D, McDermott EW. CA 15-3: Uses and limitation as a biomarker for breast cancer. Clin Chim Acta 2010;411(23-24):1869-74..
- 6. Alix-Panabières C and Pantel K. Circulating tumor cells: Liquid biopsy of cancer. Clin Chem 2013;59(1):110-8.
- 7. Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A. Liquid biopsy: Monitoring cancer-genetics in the blood. Nat Rev Clin Oncol 2013;10(8):472-84.
- 8. Park Y, Kitahara T, Urita T, Yoshida Y and Kato R. Expected clinical applications of circulating tumor cells in breast cancer. World J Clin Oncol 2011;2:303-310.
- 9. Asworth T. A case of cancer in which cells similar to those in the tumours were seen in the blood after death. Australas Med J 1869;14:146-7.
- 10.Cabel L, Proudhon C, Gortais H, Loirat D, Coussy F, Pierga JY, et al. Circulating tumor cells: clinical validity and utility. Int J Clin Oncol 2017; Epub ahead of print.
- 11.Lee JS, Magbanua MJ, Park JW. Circulating tumor cells in breast cancer: applications in personalized medicine. Breast Cancer Res Treat 2016;160(3):411-424.
- 12.Bulfoni M, Turetta M, Del Ben F, Di Loreto C, Beltrami AP and Cesselli D. Dissecting the Heterogeneity of Circulating Tumor Cells in Metastatic Breast Cancer: Going Far Beyond the Needle in the Haystack. Int J Mol Sci 2016;17(10)pii: E1775.
- 13.Banys-Paluchowski M, Krawczyk N and Fehm T. Potential Role of Circulating Tumor Cell Detection and Monitoring in Breast Cancer: A Review of Current Evidence. Front Oncol 2016;6:255.
- 14.Pantel K, Alix-Panabiéres C and Riethdorf S. Cancer micrometastases. Nat Rev Clin Oncol 2009; 6:339e351.
- 15.Rack B, Schindlbeck C, Juckstock J, Andergassen U, Hepp P, Zwingers T, et al. Circulating tumor cells predict survival in early average-to-high risk breast cancer patients. J Natl Cancer Inst 2014; 106(5):pii:dju066.
- 16.Janni WJ, Rack B, Terstappen LW, Pierga JY, Taran FA, Fehm T, et al. Pooled analysis of the prognostic relevance of circulating tumor cells in primary breast cancer. Clin Cancer Res 2016;22(10):2583–93.
- 17.Fehm T, Hoffmann O, Aktas B, Becker S, Solomayer EF, Wallwiener D, et al. Detection and characterization of circulating tumor cells in blood of primary breast cancer patients by RT-PCR and comparison to status of bone marrow disseminated cells. Breast Cancer Res 2009;11(4):R59.
- 18.Ignatiadis M, Rack B, Rothe F, Riethdorf S, Decraene C, Bonnefoi H, et al. Liquid biopsy-based clinical research in early breast cancer: the EORTC 90091-10093 Treat CTC Trial. Eur J Cancer 2016;63:97–104.
- 19.Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Matera J, Miller MC, et al. Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med 2004;351(8):781–91.
- 20.Cristofanilli M, Hayes DF, Budd GT, Ellis MJ, Stopeck A, Reuben JM, et al. Circulating tumor cells: a novel prognostic factor for newly diagnosed metastatic breast cancer. J Clin Oncol 2005;23(7):1420–30.
- 21.Giuliano M, Giordano A, Jackson S, Hess KR, De Giorgi U, Mego M, et al. Circulating tumor cells as prognostic and predictive markers in metastatic breast cancer patients receiving first-line systemic treatment. Breast Cancer Res 2011;13(3):R67.
- 22.Wallwiener M, Hartkopf AD, Baccelli I, Riethdorf S, Schott S, Pantel K, et al. The prognostic impact of circulating tumor cells in subtypes of metastatic breast cancer. Breast Cancer Res Treat 2013;137(2):503–10.
- 23.Hayes DF, Cristofanilli M, Budd GT, Ellis MJ, Stopeck A, Miller MC, et al. Circulating tumor cells at each follow-up time point during therapy of metastatic breast cancer patients predict progression-free and overall survival. Clin Cancer Res 2006;12(14 Pt 1):4218–24.
- 24.Budd GT, Cristofanilli M, Ellis MJ, Stopeck A, Borden E, Miller MC, et al. Circulating tumor cells versus imaging–-predicting overall survival in metastatic breast cancer. Clin Cancer Res 2006;12(21):6403–9.
- 25.Hayashi N, Nakamura S, Tokuda Y, Shimoda Y, Yagata H, Yoshida A, et al. Prognostic value of HER2-positive circulating tumor cells in patients with metastatic breast cancer. Int J Clin Oncol 2012;17(2):96–104.
- 26.Beije N, Onstenk W, Kraan J, Sieuwerts AM, Hamberg P, Dirix LY, et al. Prognostic impact of HER2 and ER status of circulating tumor cells in metastatic breast cancer patients with a HER2-negative primary tumor. Neoplasia 2016;18(11):647–53 . 27.Mandel, P. Les acides nucleiques du plasma sanguin chez l’homme. CR Acad Sci Paris 1948;142, 241-243.
- 28.Bendich A, Wilczok T and Borenfreund E. Circulating DNA as a possible factor in oncogenesis. Science 1965;148:374-6.
- 29.Vasioukhin V, Anker P, Maurice P, Lyautey J, Lederrey C and 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.
- 30.Sorenson GD, Pribish DM, Valone FH, Memoli VA, Bzik DJ and Yao SL. Soluble normal and mutated DNA sequences from single-copy genes in human blood. Cancer Epidemiol Biomarkers Prev 1994;3(1):67-71.
- 31.Silva JM, Gonzalez R, Dominguez G, Garcia JM, España P and Bonilla F. TP53 gene mutations in plasma DNA of cancer patients. Genes Chromosomes Cancer 1999;24(2): 160-1.
- 32.Sanchez-Cespedes M, Estelle M, Wu L, Nawroz-Danish H, Yoo GH, Koch W M et al. Gene promoter hypermethylation in tumors and serum of head and neck cancer patients. Cancer Res 200;60:892–895.
- 33.Tzong-Hae L, Montalvo L, Chrebtow V and Busch MP. Quantitation of genomic DNA in plasma and serum samples: Higher concentrations of genomic DNA found in serum than in plasma. Transfusion 2001;41(2):276-282.
- 34.Baker M. Digital PCR hits its stride. Nat Methods 2012;9(6):541.
- 35.Hatch AC, Fisher JS, Tovar AR, Hsieh AT, Lin R, Pentoney SL, et al. 1-Million droplet array with wide-field fluorescence imaging for digital PCR. Lab on a Chip 2011;11(22):3838-45.
- 36.Gevensleben H, Garcia-Murillas I, Graeser MK, Schiavon G, Osin P, Parton M, et al. Noninvasive detection of HER2 amplification with plasma DNA digital PCR. Clinical Cancer Research 2013;19(12):3276-84.
- 37.Taly V, Pekin D, Benhaim L, Kotsopoulos SK, Le Corre D, Li X, et al. Multiplex picodroplet digital PCR to detect KRAS mutations in circulating DNA from the plasma of colorectal cancer patients. Clinical Chemistry 2013;59(12):1722-31.
- 38.Pinheiro LB, Coleman VA, Hindson CM, Herrmann J, Hindson BJ, Bhat S et al. Evaluation of a droplet digital polymerase chain reaction format for DNA copy number quantification. Anal Chem 2012;84(2):1003-11.
- 39.Henson, Joseph, German Tischler, and Zemin Ning. Next-generation sequencing and large genome assemblies. Pharmacogenomics 2012;13(8):901-915.
- 40.Newman AM, Bratman SV, To J, Wynne JF, Eclov NC, Modlin LA, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 2014;20(5):548
- 41.Canzoniero JV and Park BH. Use of cell free DNA in breast oncology. Biochim Biophys Acta 2016;1865(2):266-74
- 42.Umetani N, Giuliano AE, Hiramatsu SH, Amersi F, Nakagawa T, Martino S, et al. Prediction of breast tumor progression by integrity of free circulating DNA in serum. J Clin Oncol 2006;24(26):4270-6.
- 43.Iqbal S, Vishnubhatla S, Raina V, Sharma S, Gogia A, Deo SS, et al. Circulating cell-free DNA and its integrity as a prognostic marker for breast cancer. Springerplus 2015;4:265.
- 44.Chimonidou M, Tzitzira A, Strati A, Sotiropoulou G, Sfikas C, Malamos N, et al. CST6 promoter methylation in circulating cell-free DNA of breast cancer patients. Clin Biochem 2013;46(3):235-40.
- 45.Dulaimi E, Hillinck J, Ibanez de Caceres I, Al-Saleem T and Cairns P. Tumor suppressor gene promoter hypermethylation in serum of breast cancer patients. Clin Cancer Res 2004;10(18 Pt 1):6189-93.
- 46.Oshiro C, Kagara N, Naoi Y, Shimoda M, Shimomura A, Maruyama N, et al. PIK3CA mutations in serum DNA are predictive of recurrence in primary breast cancer patients. Breast Cancer Res Treat 2015;150(2):299-307.
- 47.Huang ZH, Li LH and Hua D. Quantitative analysis of plasma circulating DNA at diagnosis and during follow-up of breast cancer patients. Cancer Lett 2006;243(1):64-70.
- 48.Lehner J, Stötzer OJ, Fersching D, Nagel D and Holdenrieder S. Circulating plasma DNA and DNA integrity in breast cancer patients undergoing neoadjuvant chemotherapy. Clin Chim Acta 2013;425:206-11.
- 49.Garcia-Murillas I(1), Schiavon G(2), Weigelt B(3), Ng C(3), Hrebien S(1), Cutts RJ(1), et al. Mutation tracking in circulating tumor DNA predicts relapse in early breast cancer. Sci Transl Med 2015;7(302):302ra133.
- 50.Zhang L, Ridgway LD, Wetzel MD, Ngo J, Yin W, Kumar D, et al. The identification and characterization of breast cancer CTCs competent for brain metastasis. Sci Transl Med 2013;5(180):180ra48.