Circulating Tumour DNA for Detecting Minimal Residual Disease in Multiple Myeloma

Trevor J Pugh

doi:10.1053/j.seminhematol.2018.03.002

Circulating Tumour DNA for Detecting Minimal Residual Disease in Multiple Myeloma

Semin Hematol. 2018 Jan;55(1):38-40. doi: 10.1053/j.seminhematol.2018.03.002. Epub 2018 Mar 7.

Author

Trevor J Pugh¹

Affiliation

¹ Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada; Department of Medical Biophysics, University of Toronto, Toronto, ON, Canada; Ontario Institute for Cancer Research, Toronto, ON, Canada. Electronic address: trevor.pugh@utoronto.ca.

PMID: 29759151
DOI: 10.1053/j.seminhematol.2018.03.002

Abstract

Circulating tumor DNA faithfully recapitulates somatic mutations detected in bone marrow aspirates from patients with newly diagnosed or relapsed or recurrent myeloma. Extending these methods to enable detection of minimal residual disease will require increased sensitivity and breadth of genomic assays to maximize information content from small quantities of cell-free DNA; as well as definition of a clinically meaningful ctDNA concentration in comparison with conventional bone marrow cell-count thresholds. This review describes the use of cell-free DNA sequencing in myeloma to date, identifies challenges associated with pushing limit of detection of these assays into the realm of detecting minimal residual disease, and describes potential strategies to overcome these challenges.

Keywords: Cancer genomics; Cell-free circulating tumor DNA; Epigenetics; Multiple myeloma; Mutations.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Biomarkers, Tumor / metabolism*
Circulating Tumor DNA / genetics*
Humans
Multiple Myeloma / diagnosis*
Multiple Myeloma / pathology
Neoplasm, Residual / diagnosis*
Neoplasm, Residual / pathology

Substances

Biomarkers, Tumor
Circulating Tumor DNA