NDLI: Genomic characteristics and prognostic correlations in Chinese multiple myeloma patients

Content Provider	Springer Nature : BioMed Central
Author	Chen, Xi Luo, Tianchen Zhang, Wenhui Wang, Sheng Zhu, Mengxuan He, Haiyan Liu, Jin Lu, Jing Qiang, Wanting Jia, Yanchun Hou, Nan Zhao, Xuenan Zhang, Shan Li, Jing Du, Juan
Abstract	Background Multiple myeloma (MM) is a hematologic malignancy characterized by the proliferation of abnormal clonal plasma cells in the bone marrow. The heterogeneity in Chinese MM populations remains underexplored. Methods We conducted whole-exome sequencing (WES) on 241 tumor samples, complemented by RNA sequencing (RNA-seq) on 131 samples from 212 Chinese MM patients. Results We identified a novel mutational signature and analyzed molecular differences between newly diagnosed MM (NDMM) and relapsed/refractory MM (RRMM) patients. NFKBIA mutations were notably more frequent in NDMM patients compared to the MMRF-COMMPASS cohort (4/50 vs 22/937, p = 0.048), with additional recurrent mutations in several genes like TTN, IGLL5 and SYNE1. In RRMM patients, UBR5 mutations were more prevalent (4/24 vs 0/50, p = 0.01), alongside frequent mutations in OBSCN, CACNA1H, and HSPG2. Clonal evolution was assessed through multiple time points and locations, identifying genes potentially linked to circulating plasma cell formation. Cox regression analysis revealed that age and mutations in OBSCN and RB1 were significant predictors of progression-free survival (PFS) in NDMM patients. Additionally, albumin, β2-microglobulin, and RB1 mutations were correlated with overall survival (OS). Conclusions In summary, we characterized the genomic landscape of MM in diverse Chinese populations, confirmed clonal evolution, and identified prognostic genes.
Related Links	https://bmcmedgenomics.biomedcentral.com/counter/pdf/10.1186/s12920-025-02116-5.pdf
Ending Page	14
Page Count	14
Starting Page	1
File Format	HTM / HTML
ISSN	17558794
DOI	10.1186/s12920-025-02116-5
Journal	BMC Medical Genomics
Issue Number	1
Volume Number	18
Language	English
Publisher	BioMed Central
Publisher Date	2025-03-14
Access Restriction	Open
Subject Keyword	Human Genetics Microarrays Gene Expression Multiple myeloma Genomic characteristics Prognosis
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Genetics
Journal Impact Factor	2.1/2023
5-Year Journal Impact Factor	2.5/2023

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