ArticleJournal of cancer research and clinical oncology2025
A comprehensive analysis of bone marrow-derived cytogenetic abnormalities in multiple myeloma patients with extramedullary disease.
Article in Journal of cancer research and clinical oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Article
- When Myeloma Escapes the Bone Marrow: Extramedullary Disease in the Immunotherapy Era.Cancers · 2026Review
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7 authors.
Funding
Abstract
backgroundExtramedullary disease (EMD) in multiple myeloma (MM) remains a critical clinical challenge due to its aggressive behavior and resistance to conventional therapies. While cytogenetic abnormalities are recognized contributors to MM progression, their specific roles in EMD pathogenesis-particularly in distinguishing bone marrowderived profiles between EMD and non-EMD patients-remain inadequately characterized.
methodsIn this comprehensive study, we analyzed 41 published studies involving 9424 MM patients, and identified EMD in 32.2% (3038) of cases. Our aim was to elucidate the bone marrow-derived cytogenetic profiles of MM patients with EMD, comparing them to those without EMD.
resultsAmong EMD-MM patients, the most prevalent abnormalities were del(13q)/del RB1 (32.3%), 1q21+ (29.6%), and hyperdiploidy (26.3%). High-risk cytogenetic abnormalities were led by 1q21+ (29.6%), del(17p)/del p53 (14.4%), and t(4;14) (13.6%). Notably, 1q21+ was the most frequent aberration in the EM-E subgroup, accounting for 32.2% of cases. Comparative analyses revealed significantly higher frequencies of del(17p)/del p53 and del(13q)/del RB1 in EMD patients compared to non-EMD patients, along with a slightly higher frequency of 1q21+. Conversely, EMD patients exhibited lower frequencies of hyperdiploidy and t(11;14) promoting MM evolution. Subgroup analyses confirmed these trends and revealed a more pronounced prevalence of del(13q)/del RB1 in the EM-E subgroup.
conclusionsOur findings underscore the importance of integrating cytogenetic data into risk stratification for MM patients with EMD. These results also highlight the need for further research to elucidate the mechanisms underlying cytogenetic abnormalities in EMD and their clinical implications.
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