多发性骨髓瘤患者死亡率的遗传预测因素。

IF 2.6 Q2 GENETICS & HEREDITY Application of Clinical Genetics Pub Date : 2021-04-29 eCollection Date: 2021-01-01 DOI:10.2147/TACG.S262866
Hamza Hassan, Raphael Szalat
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引用次数: 3

摘要

多发性骨髓瘤(MM)是一种以克隆性浆细胞增殖和基因组不稳定性为特征的异质性疾病。新一代测序技术的出现,揭开了这种疾病复杂的基因组图谱。几种复发性基因组畸变,包括免疫球蛋白基因易位、拷贝数异常、复杂染色体事件、转录组和表观基因组失调以及突变,定义了具有不同结果的不同分子亚群。在这篇综述中,我们描述了在MM中发现的影响患者预后和生存的复发性基因组事件。这些基因组畸变构成了新的标记,可以被纳入预测模型,最终指导疾病每个阶段的治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genetic Predictors of Mortality in Patients with Multiple Myeloma.

Multiple myeloma (MM) is a heterogeneous disease featured by clonal plasma cell proliferation and genomic instability. The advent of next-generation sequencing allowed unraveling the complex genomic landscape of the disease. Several recurrent genomic aberrations including immunoglobulin genes translocations, copy number abnormalities, complex chromosomal events, transcriptomic and epigenomic deregulation, and mutations define various molecular subgroups with distinct outcomes. In this review, we describe the recurrent genomic events identified in MM impacting patients' outcome and survival. These genomic aberrations constitute new markers that could be incorporated into a prognostication model to eventually guide therapy at every stage of the disease.

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来源期刊
Application of Clinical Genetics
Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
5.40
自引率
0.00%
发文量
20
审稿时长
16 weeks
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