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Review
. 2022 May 30;12(6):812.
doi: 10.3390/life12060812.

Review of Multiple Myeloma Genetics including Effects on Prognosis, Response to Treatment, and Diagnostic Workup

Julia Erin Wiedmeier-Nutor  1 , Peter Leif Bergsagel  1
Affiliations
Review

Review of Multiple Myeloma Genetics including Effects on Prognosis, Response to Treatment, and Diagnostic Workup

Julia Erin Wiedmeier-Nutor et al. Life (Basel). .

Abstract

Multiple myeloma is a disorder of the monoclonal plasma cells and is the second most common hematologic malignancy. Despite improvements in survival with newer treatment regimens, multiple myeloma remains an incurable disease and most patients experience multiple relapses. Multiple myeloma disease initiation and progression are highly dependent on complex genetic aberrations. This review will summarize the current knowledge of these genetic aberrations, how they affect prognosis and the response to treatment, and review sensitive molecular techniques for multiple myeloma workup, with the ultimate goal of detecting myeloma progression early, allowing for timely treatment initiation.

Keywords: cytogenetics; minimal residual disease; molecular genetics; multiple myeloma; mutation; targetable therapies.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Multiple myeloma dysregulation of the RB pathway. Primary events (HRD, t(11;14), t(4;14), t(14;16), t(14; 20), and t(6;14) lead to the dysregulation of a D cyclin. Cyclin D1, cyclin D2, and cyclin D3 interact with CDK4 and CDK6 to phosphorylate RB, allowing the E2F family transcription factors to activate the G1-to-S phase transition in the cell cycle.
Figure 2
Figure 2
Comparison of chromothripsis and chromoplexy. Chromothripsis, a single catastrophic event, includes multiple copy-number gains, losses, and random DNA fragment joining (top). Chromoplexy involves structural variants across >2 chromosomes and is also associated with copy-number loss (bottom).
See this image and copyright information in PMC

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