文章：

多发性骨髓瘤中的1号染色体q21异常

Chromosome 1q21 abnormalities in multiple myeloma

原文发布日期：2021-04-29

DOI: 10.1038/s41408-021-00474-8

类型: Review Article

开放获取: 是

英文摘要：

Gain of chromosome 1q (+1q) is one of the most common recurrent cytogenetic abnormalities in multiple myeloma (MM), occurring in approximately 40% of newly diagnosed cases. Although it is often considered a poor prognostic marker in MM, +1q has not been uniformly adopted as a high-risk cytogenetic abnormality in guidelines. Controversy exists regarding the importance of copy number, as well as whether +1q is itself a driver of poor outcomes or merely a common passenger genetic abnormality in biologically unstable disease. Although the identification of a clear pathogenic mechanism from +1q remains elusive, many genes at the 1q21 locus have been proposed to cause early progression and resistance to anti-myeloma therapy. The plethora of potential drivers suggests that +1q is not only a causative factor or poor outcomes in MM but may be targetable and/or predictive of response to novel therapies. This review will summarize our current understanding of the pathogenesis of +1q in plasma cell neoplasms, the impact of 1q copy number, identify potential genetic drivers of poor outcomes within this subset, and attempt to clarify its clinical significance and implications for the management of patients with multiple myeloma.
 

摘要翻译： 

1号染色体长臂增益（+1q）是多发性骨髓瘤中最常见的复发性细胞遗传学异常之一，约见于40%的新诊断病例。尽管通常被认为是多发性骨髓瘤的不良预后标志，但指南尚未将其统一列为高风险细胞遗传学异常。关于拷贝数的重要性、以及+1q本身是导致不良结局的驱动因素，抑或仅是生物学不稳定疾病中常见的伴随性遗传异常，目前仍存在争议。虽然从+1q中明确致病机制仍未有定论，但1q21位点上的许多基因被认为可导致疾病早期进展和对抗骨髓瘤治疗产生耐药。大量潜在驱动基因的存在提示，+1q不仅是多发性骨髓瘤不良结局的致病因素，还可能成为治疗靶点，并/或可预测新型疗法的反应。本综述将总结目前对浆细胞肿瘤中+1q致病机制的理解、1q拷贝数的影响，识别该亚群中导致不良结局的潜在遗传驱动因素，并试图阐明其临床意义及对多发性骨髓瘤患者管理的启示。

原文链接：

Chromosome 1q21 abnormalities in multiple myeloma