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Early Cancer Detection: Challenges and Opportunities

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Circulating Tumor Cells

Part of the book series: Current Cancer Research ((CUCR))

Abstract

Cancer is the second leading cause of death both globally and in the United States [1]. Recent studies suggest that the detection of cancer at early, pre-clinical stages has the potential to reduce cancer-specific morbidity and mortality [2]. Yet, at present, more than 70% of cancer deaths occur in organ sites without approved early detection modalities [2] mainly due to cost-ineffectiveness caused by low disease prevalence in most organ sites, combined with the low sensitivity of detection at early stages, and the relatively high false positive rates that can lead to significant morbidities or mortality from unwarranted invasive diagnostic procedures, or to unnecessary financial toxicity. Currently, screening programs for early cancer detection in the general population in the United States are recommended only for a few organ sites with relatively high incidence, including colon, breast, and cervix [3], as well as for lung cancer in individuals with increased, smoking history-based risk [4], or for prostate cancer at an individualized basis [5]. Existing screening programs, such as colonoscopy for colorectal cancers, mammography for breast cancer, or low-dose computed tomography for lung cancer, require expensive infrastructure and highly trained technical and medical personnel. Hence, compliance with recommended screenings has remained poor [6], especially among historically and socioeconomically vulnerable populations, such as ethnic/racial minorities, under-insured or uninsured individuals, or those residing in rural areas with limited access to health care services.

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References

  1. L. A. Torre, R. L. Siegel, E. M. Ward, A. Jemal, Global Cancer Incidence and Mortality Rates and Trends–An Update. Cancer Epidemiol Biomarkers Prev 25, 16-27 (2016).

    Article  PubMed  Google Scholar 

  2. R. L. Siegel, K. D. Miller, H. E. Fuchs, A. Jemal, Cancer Statistics, 2021. CA Cancer J Clin 71, 7-33 (2021).

    Article  PubMed  Google Scholar 

  3. R. A. Smith et al., Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin 69, 184-210 (2019).

    Article  PubMed  Google Scholar 

  4. I. Toumazis, M. Bastani, S. S. Han, S. K. Plevritis, Risk-Based lung cancer screening: A systematic review. Lung Cancer 147, 154-186 (2020).

    Article  PubMed  Google Scholar 

  5. W. J. Catalona, Prostate Cancer Screening. Med Clin North Am 102, 199-214 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  6. I. J. Hall et al., Patterns and Trends in Cancer Screening in the United States. Prev Chronic Dis 15, E97 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  7. J. C. M. Wan et al., Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer 17, 223-238 (2017).

    Article  CAS  PubMed  Google Scholar 

  8. Y. M. D. Lo, W. K. J. Lam, Towards multi-cancer screening using liquid biopsies. Nat Rev Clin Oncol 17, 525-526 (2020).

    Article  CAS  PubMed  Google Scholar 

  9. J. D. Cohen et al., Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science 359, 926-930 (2018).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. M. C. Liu et al., Sensitive and specific multi-cancer detection and localization using methylation signatures in cell-free DNA. Ann Oncol 31, 745-759 (2020).

    Article  CAS  PubMed  Google Scholar 

  11. D. A. Ahlquist, Universal cancer screening: revolutionary, rational, and realizable. NPJ Precis Oncol 2, 23 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  12. E. Hubbell, C. A. Clarke, A. M. Aravanis, C. D. Berg, Modeled Reductions in Late-stage Cancer with a Multi-Cancer Early Detection Test. Cancer Epidemiol Biomarkers Prev 30, 460-468 (2021).

    Article  CAS  PubMed  Google Scholar 

  13. G. Siravegna et al., How liquid biopsies can change clinical practice in oncology. Ann Oncol 30, 1580-1590 (2019).

    Article  CAS  PubMed  Google Scholar 

  14. M. Ignatiadis, G. W. Sledge, S. S. Jeffrey, Liquid biopsy enters the clinic – implementation issues and future challenges. Nat Rev Clin Oncol 18, 297-312 (2021).

    Article  PubMed  Google Scholar 

  15. F. Diehl et al., Circulating mutant DNA to assess tumor dynamics. Nat Med 14, 985-990 (2008).

    Article  CAS  PubMed  Google Scholar 

  16. C. Alix-Panabieres, K. Pantel, Clinical Applications of Circulating Tumor Cells and Circulating Tumor DNA as Liquid Biopsy. Cancer Discov 6, 479-491 (2016).

    Article  CAS  PubMed  Google Scholar 

  17. L. De Mattos-Arruda et al., Cerebrospinal fluid-derived circulating tumour DNA better represents the genomic alterations of brain tumours than plasma. Nat Commun 6, 8839 (2015).

    Article  PubMed  PubMed Central  Google Scholar 

  18. Y. H. Su, A. K. Kim, S. Jain, Liquid biopsies for hepatocellular carcinoma. Transl Res 201, 84-97 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  19. R. Einoch Amor, M. K. Nakhleh, O. Barash, H. Haick, Breath analysis of cancer in the present and the future. Eur Respir Rev 28, (2019).

    Google Scholar 

  20. X. Chen et al., Prognostic Significance of Blood-Based Multi-cancer Detection in Plasma Cell-Free DNA. Clin Cancer Res 27, 4221-4229 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. W. Qian, Y. Zhang, W. Chen, Capturing Cancer: Emerging Microfluidic Technologies for the Capture and Characterization of Circulating Tumor Cells. Small 11, 3850-3872 (2015).

    Article  CAS  PubMed  Google Scholar 

  22. E. Shumilov et al., Genetic alterations crossing the borders of distinct hematopoetic lineages and solid tumors: Diagnostic challenges in the era of high-throughput sequencing in hemato-oncology. Crit Rev Oncol Hematol 126, 64-79 (2018).

    Article  PubMed  Google Scholar 

  23. A. L. Volckmar et al., A field guide for cancer diagnostics using cell-free DNA: From principles to practice and clinical applications. Genes Chromosomes Cancer 57, 123-139 (2018).

    Article  CAS  PubMed  Google Scholar 

  24. I. W. Deveson et al., Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology. Nat Biotechnol 39, 1115-1128 (2021).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. J. Kowal, M. Tkach, C. Thery, Biogenesis and secretion of exosomes. Curr Opin Cell Biol 29, 116-125 (2014).

    Article  CAS  PubMed  Google Scholar 

  26. S. Cristiano et al., Genome-wide cell-free DNA fragmentation in patients with cancer. Nature 570, 385-389 (2019).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. J. P. Hinestrosa et al., Early-stage multi-cancer detection using an extracellular vesicle protein-based blood test. Commun Med (Lond) 2, 29 (2022).

    Article  CAS  PubMed  Google Scholar 

  28. A. M. Lennon et al., Feasibility of blood testing combined with PET-CT to screen for cancer and guide intervention. Science 369, (2020).

    Google Scholar 

  29. P. V. Nuzzo et al., Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes. Nat Med 26, 1041-1043 (2020).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. J. J. Kim, E. A. Burger, C. Regan, S. Sy, Screening for Cervical Cancer in Primary Care: A Decision Analysis for the US Preventive Services Task Force. JAMA 320, 706-714 (2018).

    Article  PubMed  PubMed Central  Google Scholar 

  31. C. D. Lehman et al., National Performance Benchmarks for Modern Screening Digital Mammography: Update from the Breast Cancer Surveillance Consortium. Radiology 283, 49-58 (2017).

    Article  PubMed  Google Scholar 

  32. P. F. Pinsky et al., Performance of Lung-RADS in the National Lung Screening Trial: a retrospective assessment. Ann Intern Med 162, 485-491 (2015).

    Article  PubMed  PubMed Central  Google Scholar 

  33. L. C. Leiman, J. Baden, K. D’Auria, C. J. Lin, K. Meier, Creating standards for liquid biopsies: the BLOODPAC experience. Expert Rev Mol Diagn, 1-3 (2022).

    Google Scholar 

  34. R. L. Grossman et al., BloodPAC Data Commons for Liquid Biopsy Data. JCO Clin Cancer Inform 5, 479-486 (2021).

    Article  PubMed  Google Scholar 

  35. P. G. Febbo et al., Minimum Technical Data Elements for Liquid Biopsy Data Submitted to Public Databases. Clin Pharmacol Ther 107, 730-734 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  36. J. H. Godsey et al., Generic Protocols for the Analytical Validation of Next-Generation Sequencing-Based ctDNA Assays: A Joint Consensus Recommendation of the BloodPAC’s Analytical Variables Working Group. Clin Chem 66, 1156-1166 (2020).

    Article  PubMed  PubMed Central  Google Scholar 

  37. P. M. Williams et al., Validation of ctDNA Quality Control Materials Through a Precompetitive Collaboration of the Foundation for the National Institutes of Health. JCO Precis Oncol 5, (2021).

    Google Scholar 

  38. G. Putcha, A. Gutierrez, S. Skates, Multicancer Screening: One Size Does Not Fit All. JCO Precis Oncol 5, 574-576 (2021).

    Article  PubMed  Google Scholar 

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Correspondence to Christos Patriotis or Sudhir Srivastava .

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Patriotis, C., Srivastava, S. (2023). Early Cancer Detection: Challenges and Opportunities. In: Cote, R.J., Lianidou, E. (eds) Circulating Tumor Cells. Current Cancer Research. Springer, Cham. https://doi.org/10.1007/978-3-031-22903-9_24

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