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Review
. 2024 May 10;25(10):5208.
doi: 10.3390/ijms25105208.

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

Robbe Heestermans  1   2   3 , Rik Schots  2   3 , Ann De Becker  2   3 , Ivan Van Riet  2   3
Affiliations
Review

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

Robbe Heestermans et al. Int J Mol Sci. .

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.

Keywords: cell-free DNA; circulating tumor cells; extracellular vesicles; liquid biopsy; multiple myeloma; mutation profiling; personalized medicine.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Evolving genetic profile in multiple myeloma throughout disease progression.
Figure 2
Figure 2
Liquid biopsies are non-invasive, practical tools to address the multi-level genetic heterogeneity in multiple myeloma.
See this image and copyright information in PMC

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