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Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids
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Extending Circulating Tumor DNA Analysis to Ultralow Abundance Mutations: Techniques and Challenges

Andrew E Rodda, Bradyn J Parker, Andrew Spencer1,2

  • 1Myeloma Research Group, Australian Center for Blood Diseases , Monash University , Melbourne , Victoria 3004 , Australia.

ACS Sensors
|February 15, 2018
PubMed

Insights

Liquid biopsies analyzing circulating tumor DNA (ctDNA) show promise for cancer treatment. Current ctDNA detection methods face challenges with fragmentation and low concentrations, but new techniques are improving diagnostics.

Area of Science:

  • Oncology
  • Molecular Diagnostics
  • Genetics

Background:

  • Circulating tumor DNA (ctDNA) analysis via liquid biopsies is a promising tool for cancer treatment guidance.
  • ctDNA presents analytical challenges due to high fragmentation and low concentrations relative to wild-type DNA.
  • Detecting single DNA base pair differences in mutant ctDNA is a significant hurdle.

Purpose of the Study:

  • To review the current state-of-the-art in ctDNA detection technologies.
  • To critically compare existing analytical techniques for ctDNA analysis.
  • To identify necessary improvements for advanced ctDNA diagnostic applications.

Main Methods:

  • Review of emerging and established ctDNA detection techniques.
  • Comparative analysis of analytical capabilities and practical limitations of various methods.
  • Examination of current pilot studies and their promising results.

Main Results:

  • Several techniques for analyzing ctDNA have emerged with promising pilot study results.
  • Existing methods have drawbacks in analytical performance or practical application, limiting widespread clinical use.
  • Advanced ctDNA assay characteristics are needed for expanded applications.

Conclusions:

  • New ctDNA detection techniques are crucial for overcoming current limitations.
  • Improvements are required to enable applications in companion diagnostics, treatment response monitoring, and early cancer detection.
  • Further development could significantly benefit cancer patient management and outcomes.
Keywords:
assay developmentcancercell-free DNAcirculating tumor DNAliquid biopsymultiplexsample-limitedsensitivityspecificity

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