Liquid Biopsies as Non-Invasive Tools for Mutation Profiling in Multiple Myeloma: Application Potential, Challenges, and Opportunities

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Abstract

Over the last decades, the survival of multiple myeloma (MM) patients has considerably improved. However, despite the availability of new treatments, most patients still relapse and become therapy-resistant at some point in the disease evolution. The mutation profile has an impact on MM patients’ outcome, while typically evolving over time. Because of the patchy bone marrow (BM) infiltration pattern, the analysis of a single bone marrow sample can lead to an underestimation of the known genetic heterogeneity in MM. As a result, interest is shifting towards blood-derived liquid biopsies, which allow for a more comprehensive and non-invasive genetic interrogation without the discomfort of repeated BM aspirations. In this review, we compare the application potential for mutation profiling in MM of circulating-tumor-cell-derived DNA, cell-free DNA and extracellular-vesicle-derived DNA, while also addressing the challenges associated with their use. 
Original languageEnglish
Article number5208
Number of pages15
JournalInternational Journal of Molecular Sciences
Volume25
Issue number10
DOIs
Publication statusPublished - 10 May 2024

Bibliographical note

Funding Information:
Robbe Heestermans is employed as a Predoctoral Fellow by the Research Foundation Flanders (FWO) (1SE9324N). This research is supported by Kom op tegen Kanker, the Research Foundation Flanders (FWO), and the UZ Brussel Foundation.

Publisher Copyright:
© 2024 by the authors.

Keywords

  • Liquid biopsy
  • Multiple Myeloma
  • mutation profiling
  • Cell-free DNA
  • Circulating tumor cells
  • Extracellular vesicles
  • Personalized Medicine

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