The role of 1q abnormalities in multiple myeloma: Genomic insights, clinical implications, and therapeutic challenges.

IF 5 3区 医学 Q1 HEMATOLOGY
Zachary M Avigan, Constantine S Mitsiades, Alessandro Laganà
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引用次数: 0

Abstract

Chromosome 1q copy number variations, collectively termed +1q, are 1 of the most common cytogenetic abnormalities in multiple myeloma. 1q abnormalities are associated with overexpression of a high-risk gene signature promoting cell proliferation, apoptosis resistance, genomic instability, and treatment resistance, and acquisition or expansion of +1q subclones mediate disease development and relapse. While there remains significant controversy as to whether the presence of +1q is itself an independent driver of poor prognosis or is simply a marker of other high-risk features, +1q has recently been incorporated into multiple prognostic scoring models as a new high-risk cytogenetic abnormality. In this review, we present possible underlying genetic mechanisms of high-risk disease in +1q myeloma, implications for subclonal development, its role in modifying the tumor microenvironment, current evidence for clinical significance in newly-diagnosed and relapsed patients, and current controversies in +1q classification and prognostication.

1q 异常在多发性骨髓瘤中的作用:基因组学见解、临床意义和治疗挑战。
染色体 1q 拷贝数变异统称为 +1q,是多发性骨髓瘤最常见的细胞遗传学异常之一。1q 异常与促进细胞增殖、抗凋亡、基因组不稳定性和抗药性的高风险基因特征的过度表达有关,而 +1q 亚克隆的获得或扩增介导了疾病的发展和复发。虽然对于+1q本身是否是不良预后的独立驱动因素或仅仅是其他高危特征的标志物仍存在很大争议,但最近+1q已作为一种新的高危细胞遗传学异常被纳入多种预后评分模型。在这篇综述中,我们将介绍+1q骨髓瘤高危疾病的可能潜在遗传机制、对亚克隆发展的影响、其在改变肿瘤微环境中的作用、目前在新诊断和复发患者中的临床意义证据,以及目前在+1q分类和预后判断中存在的争议。
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来源期刊
Seminars in hematology
Seminars in hematology 医学-血液学
CiteScore
6.20
自引率
2.80%
发文量
30
审稿时长
35 days
期刊介绍: Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.
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