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Updated: Jul 21, 2025
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Interphase Fluorescence in situ Hybridization of Bone Marrow Smears of Multiple Myeloma
Published on: April 15, 2022
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Genetic Abnormalities in Extramedullary Multiple Myeloma
Roisin McAvera1, John Quinn2,3, Philip Murphy2
1Department of Pathology, Royal College of Surgeons in Ireland, D09 YD60 Dublin, Ireland.
International Journal of Molecular Sciences
|July 29, 2023
Summary
Extramedullary disease (EMD) in multiple myeloma (MM) is increasing and poorly understood. This review summarizes the genetic factors driving EMD, offering insights into this aggressive cancer's progression.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Extramedullary disease (EMD) is an aggressive manifestation of multiple myeloma (MM) where malignant plasma cells disseminate outside the bone marrow.
- The incidence of EMD is rising with novel anti-myeloma therapies, presenting a significant clinical challenge.
- Understanding the mechanisms of bone marrow escape and EMD development is crucial for improving patient outcomes.
Purpose of the Study:
- To review and synthesize current knowledge on the genetic underpinnings of extramedullary disease in multiple myeloma.
- To highlight key genetic alterations and epigenetic changes associated with EMD establishment and progression.
Main Methods:
- Literature review focusing on genetic and epigenetic studies of extramedullary disease in multiple myeloma.
- Synthesis of findings related to cytogenetic abnormalities, gene mutations, and epigenetic modifications in EMD.
Main Results:
- High-risk cytogenetic abnormalities and specific gene signatures are linked to EMD.
- Mutations in RAS signaling pathways are frequently observed in EMD.
- Epigenetic alterations, particularly DNA hypermethylation in promoter regions, are increasingly recognized as drivers of EMD.
Conclusions:
- The genetic landscape of EMD is distinct and involves specific molecular events enabling plasma cell dissemination.
- Further research into the genomics and epigenomics of EMD is essential for developing targeted therapies.
- Identifying EMD driver events can lead to better risk stratification and treatment strategies for multiple myeloma patients.
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