PDF(Pubmed)
Abstract：
Multiple myeloma (MM) is a disorder of the monoclonal plasma cells and is the second most common hematologic malignancy. MM initiation and progression are dependent upon complex genomic abnormalities. The current pathogenic model of MM includes two types of primary events, represented by chromosome translocations or chromosome number alterations resulting in hyperdiploidy. These primary molecular events are observed both in MM and in monoclonal gammopathy, its premalignant precursor. Subsequent genetic events allow the progression of monoclonal gammopathy to MM and, together with primary events, contribute to the genetic complexity and heterogeneity of MM. Newer therapies have considerably improved patient outcomes; however, MM remains an incurable disease and most patients experience multiple relapses. The dramatic progresses achieved in the analysis of the heterogeneous molecular features of different MM patients allowed a comprehensive molecular classification of MM and the definition of an individualized prognostic model to predict an individual MM patient\'s response to different therapeutic options. Despite these progresses, prognostic models fail to identify a significant proportion of patients destined to early relapse. Treatment strategies are increasingly. Based on disease biology, trials are enriched for high-risk MMs, whose careful definition and categorization requires DNA sequencing studies.
摘要：
多发性骨髓瘤（MM）是单克隆浆细胞的疾病，是第二常见的血液恶性肿瘤。MM的启动和进展取决于复杂的基因组异常。目前MM的致病模型包括两类主要事件,由染色体易位或染色体数量改变导致超二倍体。这些主要分子事件在MM和单克隆丙种球蛋白病中都观察到，它的前兆。随后的遗传事件允许单克隆丙种球蛋白病向MM发展，连同主要事件，有助于MM的遗传复杂性和异质性。较新的治疗方法大大改善了患者的预后；然而，MM仍然是一种无法治愈的疾病，大多数患者经历多次复发。在分析不同MM患者的异质性分子特征方面取得的巨大进展使得能够对MM进行全面的分子分类和定义个性化的预后模型来预测个体MM患者对不同治疗选择的反应。尽管取得了这些进展,预后模型无法识别大部分注定早期复发的患者。治疗策略越来越多。基于疾病生物学,试验丰富了高风险MM，其仔细的定义和分类需要DNA测序研究。
