The landscape of small nucleolar RNA expression in multiple myeloma is determined by cytogenetic alterations (snoRNA)

We combined mRNA, small RNA and ribosome methylation sequencing to investigate snoRNA expression patterns in multiple myeloma and their association with different chromosomal aberrations. We identified snoRNAs dysregulated in molecular subgroups, with SNORD78 being highly expressed in gain1q patients and associated with poor prognosis. Our study shows that the expression of particular snoRNAs and methylation of specific snoRNA-guided rRNA sites are associated with specific chromosome gains, which are common elements in multiple myeloma. We profiled the expression of snoRNAs in CD138-enriched multiple myeloma cells from 71 newly diagnosed and four relapsed/refractory multiple myeloma patients as well as CD19+ B cells from three healthy donors.

本研究联合mRNA测序、小RNA测序及核糖体甲基化测序，探究多发性骨髓瘤（multiple myeloma）中核仁小RNA（snoRNA）的表达模式，及其与不同染色体畸变的关联。本研究鉴定出在分子亚组中表达失调的核仁小RNA，其中SNORD78在1号染色体长臂增益（gain1q）患者中呈高表达，且与不良预后相关。本研究证实，特定核仁小RNA的表达水平，以及核仁小RNA引导的核糖体RNA（rRNA）特定位点的甲基化状态，均与特定染色体扩增相关，而此类染色体扩增是多发性骨髓瘤的常见分子特征。我们对71例初诊、4例复发难治性多发性骨髓瘤患者的CD138富集骨髓瘤细胞，以及3名健康供者的CD19阳性B细胞中的核仁小RNA表达谱进行了分析。