Bioinformatics analysis of intrinsic drivers of immune dysregulation in multiple myeloma to elucidate immune phenotypes and discover prognostic gene signatures

利用生物信息学分析多发性骨髓瘤免疫失调的内在驱动因素,以阐明免疫表型并发现预后基因特征

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Abstract

Multiple myeloma (MM) progression is driven by immune dysregulation within the tumor microenvironment (TME). However, myeloma-intrinsic mechanisms underlying immune dysfunction remain poorly defined, and current immunotherapies show limited efficacy. Using RNA-seq data from 859 MM patients (MMRF-CoMMpass), we integrated xCELL, CIBERSORT, and ESTIMATE algorithms to deconvolute immune-stromal dynamics. Consensus clustering identified immune subtypes, followed by differential gene analysis and LASSO-Cox regression to construct a prognostic model validated in an independent cohort (GSE19784, N = 328). Immune Subtype Classification: Two subgroups emerged: Multiple myeloma-associated immune-related cluster 1 (N = 482): Immune-dysfunctional TME with Th2 cell enrichment, preadipocyte accumulation, and CXCL family suppression, linked to poor survival (P < 0.001). Multiple myeloma-associated immune-related cluster 2 (N = 377): Immune-active TME with cytotoxic CD8 + T/NK cell infiltration and favorable outcomes. Prognostic Gene Signature: Ten immune-related genes (UBE2T, E2F2, EXO1, SH2D2A, DRP2, WNT9A, SHROOM3, TMC8, CDCA7, and GPR132) predicted survival (The One-year AUC = 0.682 and The Over 5-years AUC = 0.714). We define a myeloma-intrinsic immune classification system and a 10-gene prognostic index, offering a framework for risk-stratified immunotherapy. Integration with flow cytometry could optimize precision treatment in MM.

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