Blood-based Analyses of Cancer: Circulating Tumor Cells and Circulating Tumor DNA

Overview

Journal Cancer Discov

Specialty Oncology

Date 2014 May 8

PMID 24801577

Citations 335

Authors

Daniel A Haber

Victor E Velculescu

Affiliations

Soon will be listed here.

Abstract

Unlabelled: The ability to study nonhematologic cancers through noninvasive sampling of blood is one of the most exciting and rapidly advancing fields in cancer diagnostics. This has been driven both by major technologic advances, including the isolation of intact cancer cells and the analysis of cancer cell-derived DNA from blood samples, and by the increasing application of molecularly driven therapeutics, which rely on such accurate and timely measurements of critical biomarkers. Moreover, the dramatic efficacy of these potent cancer therapies drives the selection for additional genetic changes as tumors acquire drug resistance, necessitating repeated sampling of cancer cells to adjust therapy in response to tumor evolution. Together, these advanced noninvasive diagnostic capabilities and their applications in guiding precision cancer therapies are poised to change the ways in which we select and monitor cancer treatments.

Significance: Recent advances in technologies to analyze circulating tumor cells and circulating tumor DNA are setting the stage for real-time, noninvasive monitoring of cancer and providing novel insights into cancer evolution, invasion, and metastasis.

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References

Cristofanilli M, Budd G, Ellis M, Stopeck A, Matera J, Miller M . Circulating tumor cells, disease progression, and survival in metastatic breast cancer. N Engl J Med. 2004; 351(8):781-91. DOI: 10.1056/NEJMoa040766. View

Alix-Panabieres C, Rebillard X, Brouillet J, Barbotte E, Iborra F, Segui B . Detection of circulating prostate-specific antigen-secreting cells in prostate cancer patients. Clin Chem. 2005; 51(8):1538-41. DOI: 10.1373/clinchem.2005.049445. View

Friedlander T, Ngo V, Dong H, Premasekharan G, Weinberg V, Doty S . Detection and characterization of invasive circulating tumor cells derived from men with metastatic castration-resistant prostate cancer. Int J Cancer. 2013; 134(10):2284-93. DOI: 10.1002/ijc.28561. View

Pekin D, Skhiri Y, Baret J, Le Corre D, Mazutis L, Salem C . Quantitative and sensitive detection of rare mutations using droplet-based microfluidics. Lab Chip. 2011; 11(13):2156-66. DOI: 10.1039/c1lc20128j. View

Talasaz A, Powell A, Huber D, Berbee J, Roh K, Yu W . Isolating highly enriched populations of circulating epithelial cells and other rare cells from blood using a magnetic sweeper device. Proc Natl Acad Sci U S A. 2009; 106(10):3970-5. PMC: 2645911. DOI: 10.1073/pnas.0813188106. View

Tan S, Yobas L, Lee G, Ong C, Lim C . Microdevice for the isolation and enumeration of cancer cells from blood. Biomed Microdevices. 2009; 11(4):883-92. DOI: 10.1007/s10544-009-9305-9. View

Pachmann K, Clement J, Schneider C, Willen B, Camara O, Pachmann U . Standardized quantification of circulating peripheral tumor cells from lung and breast cancer. Clin Chem Lab Med. 2005; 43(6):617-27. DOI: 10.1515/CCLM.2005.107. View

Fan H, Blumenfeld Y, Chitkara U, Hudgins L, Quake S . Analysis of the size distributions of fetal and maternal cell-free DNA by paired-end sequencing. Clin Chem. 2010; 56(8):1279-86. DOI: 10.1373/clinchem.2010.144188. View

Diehl F, Li M, Dressman D, He Y, Shen D, Szabo S . Detection and quantification of mutations in the plasma of patients with colorectal tumors. Proc Natl Acad Sci U S A. 2005; 102(45):16368-73. PMC: 1283450. DOI: 10.1073/pnas.0507904102. View

10.

Haber D, Gray N, Baselga J . The evolving war on cancer. Cell. 2011; 145(1):19-24. DOI: 10.1016/j.cell.2011.03.026. View

11.

Dawson S, Tsui D, Murtaza M, Biggs H, Rueda O, Chin S . Analysis of circulating tumor DNA to monitor metastatic breast cancer. N Engl J Med. 2013; 368(13):1199-209. DOI: 10.1056/NEJMoa1213261. View

12.

Zheng S, Lin H, Liu J, Balic M, Datar R, Cote R . Membrane microfilter device for selective capture, electrolysis and genomic analysis of human circulating tumor cells. J Chromatogr A. 2007; 1162(2):154-61. DOI: 10.1016/j.chroma.2007.05.064. View

13.

Liotta L, Saidel M, KLEINERMAN J . The significance of hematogenous tumor cell clumps in the metastatic process. Cancer Res. 1976; 36(3):889-94. View

14.

Kalluri R, Weinberg R . The basics of epithelial-mesenchymal transition. J Clin Invest. 2009; 119(6):1420-8. PMC: 2689101. DOI: 10.1172/JCI39104. View

15.

Allard W, Matera J, Miller M, Repollet M, Connelly M, Rao C . Tumor cells circulate in the peripheral blood of all major carcinomas but not in healthy subjects or patients with nonmalignant diseases. Clin Cancer Res. 2004; 10(20):6897-904. DOI: 10.1158/1078-0432.CCR-04-0378. View

16.

Board R, Wardley A, Dixon J, Armstrong A, Howell S, Renshaw L . Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer. Breast Cancer Res Treat. 2010; 120(2):461-7. DOI: 10.1007/s10549-010-0747-9. View

17.

Engelman J, Settleman J . Acquired resistance to tyrosine kinase inhibitors during cancer therapy. Curr Opin Genet Dev. 2008; 18(1):73-9. DOI: 10.1016/j.gde.2008.01.004. View

18.

Nagrath S, Sequist L, Maheswaran S, Bell D, Irimia D, Ulkus L . Isolation of rare circulating tumour cells in cancer patients by microchip technology. Nature. 2007; 450(7173):1235-9. PMC: 3090667. DOI: 10.1038/nature06385. View

19.

Yamada T, Nakamori S, Ohzato H, Oshima S, Aoki T, Higaki N . Detection of K-ras gene mutations in plasma DNA of patients with pancreatic adenocarcinoma: correlation with clinicopathological features. Clin Cancer Res. 1998; 4(6):1527-32. View

20.

Murtaza M, Dawson S, Tsui D, Gale D, Forshew T, Piskorz A . Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA. Nature. 2013; 497(7447):108-12. DOI: 10.1038/nature12065. View