Going with the Flow: From Circulating Tumor Cells to DNA

Experience gained from the translation of circulating tumor cell detection should help chauffeur circulating tumor DNA into the clinic. Molecular analyses of circulating tumor DNA (ctDNA) in plasma from cancer patients have the potential to deliver minimally invasive diagnostic and disease-monitoring biomarkers. Drawing from experience gained through the translation of circulating tumor cell detection to clinical tests, we discuss ctDNA as a source of tumor material for biomarker development.

[1]  Mehmet Toner,et al.  Circulating tumor cells: approaches to isolation and characterization , 2011, The Journal of cell biology.

[2]  K. Polyak,et al.  Tumor heterogeneity: causes and consequences. , 2010, Biochimica et biophysica acta.

[3]  S. Sommer,et al.  Analysis of Cancer Mutation Signatures in Blood by a Novel Ultra-Sensitive Assay: Monitoring of Therapy or Recurrence in Non-Metastatic Breast Cancer , 2009, PloS one.

[4]  Max S Wicha,et al.  Circulating tumor cells: not all detected cells are bad and not all bad cells are detected. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[5]  Massimo Cristofanilli,et al.  Considerations in the development of circulating tumor cell technology for clinical use , 2012, Journal of Translational Medicine.

[6]  Ben H. Park,et al.  Detection of Tumor PIK3CA Status in Metastatic Breast Cancer Using Peripheral Blood , 2012, Clinical Cancer Research.

[7]  Joshua F. McMichael,et al.  Genome Remodeling in a Basal-like Breast Cancer Metastasis and Xenograft , 2010, Nature.

[8]  N. Rosenfeld,et al.  Noninvasive Identification and Monitoring of Cancer Mutations by Targeted Deep Sequencing of Plasma DNA , 2012, Science Translational Medicine.

[9]  Johannes G. Reiter,et al.  The molecular evolution of acquired resistance to targeted EGFR blockade in colorectal cancers , 2012, Nature.

[10]  Lixin Yang,et al.  Multiple biomarker expression on circulating tumor cells in comparison to tumor tissues from primary and metastatic sites in patients with locally advanced/inflammatory, and stage IV breast cancer, using a novel detection technology , 2011, Breast Cancer Research and Treatment.

[11]  Carlos Caldas,et al.  Analysis of circulating tumor DNA to monitor metastatic breast cancer. , 2013, The New England journal of medicine.

[12]  K. Kinzler,et al.  Detection and quantification of rare mutations with massively parallel sequencing , 2011, Proceedings of the National Academy of Sciences.

[13]  J. Troge,et al.  Tumour evolution inferred by single-cell sequencing , 2011, Nature.

[14]  Alan Ashworth,et al.  Noninvasive Detection of HER2 Amplification with Plasma DNA Digital PCR , 2013, Clinical Cancer Research.

[15]  Klaus Pantel,et al.  Cell-free nucleic acids as biomarkers in cancer patients , 2011, Nature Reviews Cancer.

[16]  J. Izbicki,et al.  Heterogeneity of epidermal growth factor receptor status and mutations of KRAS/PIK3CA in circulating tumor cells of patients with colorectal cancer. , 2013, Clinical chemistry.

[17]  Jay Shendure,et al.  Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation , 2013, Genome research.

[18]  Torunn I Yock,et al.  Ultrasensitive measurement of hotspot mutations in tumor DNA in blood using error-suppressed multiplexed deep sequencing. , 2012, Cancer research.

[19]  Carlos Caldas,et al.  The implications of clonal genome evolution for cancer medicine. , 2013, The New England journal of medicine.

[20]  Francisco M. De La Vega,et al.  Development of Personalized Tumor Biomarkers Using Massively Parallel Sequencing , 2010, Science Translational Medicine.

[21]  Peter Ulz,et al.  Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. , 2013, Cancer research.

[22]  E. van Marck,et al.  The presence of circulating total DNA and methylated genes is associated with circulating tumour cells in blood from breast cancer patients , 2009, British Journal of Cancer.

[23]  T. Fehm,et al.  Clinical application of circulating tumor cells in breast cancer: overview of the current interventional trials , 2012, Cancer and Metastasis Reviews.

[24]  Sridhar Ramaswamy,et al.  Circulating Breast Tumor Cells Exhibit Dynamic Changes in Epithelial and Mesenchymal Composition , 2013, Science.

[25]  C. Klein.  Selection and adaptation during metastatic cancer progression , 2013, Nature.

[26]  Peter Ulz,et al.  Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing , 2013, Genome Medicine.

[27]  G. Parmigiani,et al.  Detection of Chromosomal Alterations in the Circulation of Cancer Patients with Whole-Genome Sequencing , 2012, Science Translational Medicine.

[28]  David J. Beebe,et al.  Circulating Tumor Cells: Getting More from Less , 2012, Science Translational Medicine.

[29]  E. Lianidou,et al.  SOX17 promoter methylation in circulating tumor cells and matched cell-free DNA isolated from plasma of patients with breast cancer. , 2013, Clinical chemistry.

[30]  V. Servois,et al.  Detection rate and prognostic value of circulating tumor cells and circulating tumor DNA in metastatic uveal melanoma , 2014, International journal of cancer.

[31]  Jesse J. Salk,et al.  Detection of ultra-rare mutations by next-generation sequencing , 2012, Proceedings of the National Academy of Sciences.

[32]  Frank Diehl,et al.  Detection and quantification of mutations in the plasma of patients with colorectal tumors. , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[33]  V. Servois,et al.  Pyrophosphorolysis-Activated Polymerization Detects Circulating Tumor DNA in Metastatic Uveal Melanoma , 2012, Clinical Cancer Research.

[34]  A. Børresen-Dale,et al.  The Life History of 21 Breast Cancers , 2012, Cell.

[35]  Ryan D. Morin,et al.  Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution , 2009, Nature.

[36]  M. Ranson,et al.  Detection of PIK3CA mutations in circulating free DNA in patients with breast cancer , 2010, Breast Cancer Research and Treatment.

[37]  F. Solé,et al.  Biomarkers characterization of circulating tumour cells in breast cancer patients , 2012, Breast Cancer Research.

[38]  M. Campone,et al.  Unbiased quantitative assessment of Her-2 expression of circulating tumor cells in patients with metastatic and non-metastatic breast cancer. , 2013, Annals of oncology : official journal of the European Society for Medical Oncology.

[39]  M. Campone,et al.  High independent prognostic and predictive value of circulating tumor cells compared with serum tumor markers in a large prospective trial in first-line chemotherapy for metastatic breast cancer patients. , 2012, Annals of oncology : official journal of the European Society for Medical Oncology.

[40]  F. Mouliere,et al.  The importance of examining the proportion of circulating DNA originating from tumor, microenvironment and normal cells in colorectal cancer patients , 2012, Expert opinion on biological therapy.

[41]  Irmtraud M. Meyer,et al.  The clonal and mutational evolution spectrum of primary triple-negative breast cancers , 2012, Nature.

[42]  Mehmet Toner,et al.  Detection of mutations in EGFR in circulating lung-cancer cells. , 2008, The New England journal of medicine.

[43]  A. McCullough,et al.  Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing , 2013 .

[44]  M. Zavoral,et al.  Mutation-based detection and monitoring of cell-free tumor DNA in peripheral blood of cancer patients. , 2013, Analytical biochemistry.

[45]  N. McGranahan,et al.  The causes and consequences of genetic heterogeneity in cancer evolution , 2013, Nature.

[46]  Jorge S Reis-Filho,et al.  Genetic heterogeneity and cancer drug resistance. , 2012, The Lancet. Oncology.

[47]  K. Pantel,et al.  Recent translational research: circulating tumor cells in breast cancer patients , 2006, Breast Cancer Research.

[48]  Klaus Pantel,et al.  [The circulating tumor cells: liquid biopsy of cancer]. , 2014, Klinicheskaia laboratornaia diagnostika.

[49]  Peiyong Jiang,et al.  Cancer genome scanning in plasma: detection of tumor-associated copy number aberrations, single-nucleotide variants, and tumoral heterogeneity by massively parallel sequencing. , 2013, Clinical chemistry.

[50]  Mark J. Ratain,et al.  Tumour heterogeneity in the clinic , 2013, Nature.

[51]  Michael Gundry,et al.  Direct mutation analysis by high-throughput sequencing: from germline to low-abundant, somatic variants. , 2012, Mutation research.

[52]  G. Hortobagyi,et al.  Loss of human epidermal growth factor receptor 2 (HER2) expression in metastatic sites of HER2-overexpressing primary breast tumors. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[53]  K. Pantel,et al.  Cell-free Tumor DNA in Blood Plasma As a Marker for Circulating Tumor Cells in Prostate Cancer , 2009, Clinical Cancer Research.

[54]  E. Lander,et al.  Lessons from the Cancer Genome , 2013, Cell.

[55]  H. Oettle,et al.  Detection of Ki-ras mutations in tissue and plasma samples of patients with pancreatic cancer using PNA-mediated PCR clamping and hybridisation probes , 2005, British Journal of Cancer.

[56]  G. Hampton,et al.  Evaluation of Circulating Tumor Cells and Circulating Tumor DNA in Non–Small Cell Lung Cancer: Association with Clinical Endpoints in a Phase II Clinical Trial of Pertuzumab and Erlotinib , 2011, Clinical Cancer Research.

[57]  N. Rosenfeld,et al.  Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA , 2013, Nature.