Current Hematologic Malignancy Reports

, Volume 14, Issue 5, pp 358–367 | Cite as

Liquid Biopsy by Next-Generation Sequencing: a Multimodality Test for Management of Cancer

  • Hanadi El Achi
  • Joseph D. Khoury
  • Sanam LoghaviEmail author
Molecular Testing and Diagnostics (J Khoury, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Molecular Testing and Diagnostics


Purpose of Review

While liquid biopsy is still relatively a new concept, the advent of next-generation sequencing (NGS) technologies has recently generated a revolution in the field and will be the focus of this review.

Recent Findings

Circulating tumor DNA (ctDNA) derives from tumor cells and provides information about the genetic alterations of tumors. However, ctDNA concentration in plasma can be below the level of detection by conventional methods; therefore, screening for actionable genetic information is challenging. Clinical trials exploring targeted and untargeted sequencing to improve the outcomes of ctDNA detection are showing promising results, having reached a limit of detection as low as 0.001% of ctDNA in a background of normal circulating DNA.


Most of the challenges related to the sensitivity of detection of ctDNA have been defeated by dint of NGS-based approaches. Despite all the efforts, these methods are still expensive, time-consuming, and require advanced skills for appropriate interpretation. Nevertheless, the technology is rapidly improving, and the expectations for the implementation of liquid biopsy into the clinical practice in the near future are high.


Liquid biopsy Circulating tumor DNA Next-generation sequencing Targeted sequencing Untargeted sequencing 


Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  • Hanadi El Achi
    • 1
  • Joseph D. Khoury
    • 2
  • Sanam Loghavi
    • 2
    Email author
  1. 1.Department of Pathology and Laboratory MedicineUniversity of Texas Health Science CenterHoustonUSA
  2. 2.Department of Hematopathology, Division of Pathology and Laboratory MedicineThe University of Texas MD Anderson Cancer CenterHoustonUSA

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