Testa Ugo, Pelosi Elvira, Castelli Germana, Leone Giuseppe
Istituto Superiore di Sanità, Roma, Italy.
Department of Radiological and Hematological Sciences, Catholic University, Rome, Italy.
Mediterr J Hematol Infect Dis. 2024 Jul 1;16(1):e2024062. doi: 10.4084/MJHID.2024.062. eCollection 2024.
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.
多发性骨髓瘤(MM)是一种单克隆浆细胞疾病,是第二常见的血液系统恶性肿瘤。MM的发生和进展依赖于复杂的基因组异常。目前MM的致病模型包括两种主要事件,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MM及其癌前前体单克隆丙种球蛋白病中均有观察到。随后的遗传事件使单克隆丙种球蛋白病进展为MM,并与主要事件一起,导致MM的遗传复杂性和异质性。新型疗法显著改善了患者的预后;然而,MM仍然是一种无法治愈的疾病,大多数患者会多次复发。对不同MM患者异质分子特征分析所取得的巨大进展,使得MM能够进行全面的分子分类,并定义了一个个体化的预后模型,以预测个体MM患者对不同治疗方案的反应。尽管取得了这些进展,但预后模型仍无法识别出很大一部分注定会早期复发的患者。治疗策略越来越多地基于疾病生物学,试验中纳入了高危MM,对其进行精确的定义和分类需要进行DNA测序研究。