多发性骨髓瘤 (MM) 是一种单克隆浆细胞疾病，是第二常见的血液恶性肿瘤。 MM 的发生和进展取决于复杂的基因组异常。目前的 MM 致病模型包括两种类型的主要事件，以染色体易位或导致超二倍体的染色体数目改变为代表。这些主要分子事件在多发性骨髓瘤和单克隆丙种球蛋白病（其癌前前体）中均观察到。随后的遗传事件使得单克隆丙种球蛋白病进展为 MM，并与原发事件一起导致 MM 的遗传复杂性和异质性。新疗法显着改善了患者的治疗效果；然而，MM 仍然是一种无法治愈的疾病，大多数患者会经历多次复发。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，可以对 MM 进行全面的分子分类，并定义个体化预后模型来预测个体 MM 患者对不同治疗方案的反应。尽管取得了这些进展，预后模型仍未能识别出很大一部分注定会早期复发的患者。治疗策略也越来越多。基于疾病生物学，丰富了高风险多发性骨髓瘤的试验，其仔细的定义和分类需要DNA测序研究。

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.