A comprehensive analysis of bone marrow-derived cytogenetic abnormalities in multiple myeloma patients with extramedullary disease

作者：Juan Xu, Haonan Yang, Jingcao Huang, Ting Niu, Chunyan Sun, Li Zhang, Yuhuan Zheng · 发表于：Journal of Cancer Research and Clinical Oncology · 年份：2025 · DOI：10.1007/s00432-025-06223-9 · 被引用次数：2 · 研究领域：Multiple Myeloma Research and Treatments、Acute Myeloid Leukemia Research、Myeloproliferative Neoplasms: Diagnosis and Treatment

BACKGROUND: Extramedullary 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. METHODS: In 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. RESULTS: Among 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. CONCLUSIONS: Our fin...