Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients
Chromothripsis identifies a rare and aggressive entity among newly diagnosed multiple myeloma patients
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DOI：
10.1182/blood-2011-03-344069
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发表时间：
2011-07-21
期刊：
影响因子：
20.3
通讯作者：
Minvielle, Stephane
中科院分区：
文献类型：
--
作者：
Magrangeas, Florence;Avet-Loiseau, Herve;Minvielle, Stephane
多发性骨髓瘤（MM）是由恶性前浆细胞增殖性疾病发展而来，随着时间的推移，可在髓外部位发展为更具侵袭性的疾病。逐渐的临床演变是由多年来获得遗传病变的细胞的克隆扩增支持的。这种基于持续基因组不稳定性机制的癌症演变模型可能适用于大多数MM病例的发展。然而，在一小部分新诊断的MM中，他们迅速复发并最终在2年内死亡，渐进模型似乎站不住脚。使用单核苷酸多态性阵列数据从764例新诊断的MM中获得的高分辨率拷贝数谱分析在1.3%的样本中发现了大量具有chromothripsis标志的基因组重排。此外，这一灾难性事件带来的结果很糟糕。由于chromothripsis似乎发生在一个单一的危机，我们的研究结果表明，高风险的MM患者使用这种新的方式癌症的演变。（血。2011;118（3）：675-678）
Multiple myeloma (MM) develops from a premalignant plasma cell proliferative disorder, and with time can progress to a more aggressive disease in extramedullary locations. The gradually clinical evolution is supported by clonal expansion of cells that acquire genetic lesions over years. This model of cancer evolution based on ongoing genomic instability mechanism may apply to development of most MM cases. However, in a small fraction of newly diagnosed MM who relapse quickly and finally die within 2 years, the gradual model appears to be untenable. Analysis of high resolution copy number profiles obtained using single nucleotide polymorphism array data from 764 newly diagnosed MM identified large numbers of genomic rearrangements with the hallmarks of chromothripsis in 1.3% of samples. Moreover, this catastrophic event confers a poor outcome. Because chromothripsis appears to occur in a single crisis, our results suggest that high-risk MM patients use this novel way of cancer evolution. (Blood. 2011;118(3):675-678)