Deciphering the chronology of copy number alterations in Multiple Myeloma.,Blood Cancer Journal

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Deciphering the chronology of copy number alterations in Multiple Myeloma.
Blood Cancer Journal ( IF 12.9 ) Pub Date : 2019-03-26 , DOI: 10.1038/s41408-019-0199-3
Anil Aktas Samur _{1,

2} , Stephane Minvielle ₃ , Masood Shammas _{4,

5} , Mariateresa Fulciniti ₄ , Florence Magrangeas ₃ , Paul G Richardson ₄ , Philippe Moreau ₃ , Michel Attal ₆ , Kenneth C Anderson ₄ , Giovanni Parmigiani _{1,

2} , Hervé Avet-Loiseau _{6,

7} , Nikhil C Munshi _{4,

5} , Mehmet Kemal Samur _{1,

2,

4}

Affiliation

Multiple myeloma (MM) and its precursor condition MGUS are characterized by chromosomal aberrations. Here, we comprehensively characterize the order of occurrence of these complex genomic events underlying MM development using 500 MGUS, and MM samples. We identify hyperdiploid MM (HMM) and non-HMM as genomically distinct entities with different evolution of the copy number alterations. In HMM, gains of 9,15 or 19 are the first and clonal events observed as clonal even at MGUS stage. These events are thus early and may underlie initial transformation of normal plasma cells to MGUS cells. However, CNAs may not be adequate for progression to MM except in 15% of the patients in whom the complex subclonal deletion events are observed in MM but not MGUS. In NHMM, besides the driver translocations, clonal deletion of 13 and 1q gain are early events also observed in MGUS. We combined this information to propose a timeline for copy number alteration.

中文翻译：

了解多发性骨髓瘤中拷贝数改变的时间顺序。

多发性骨髓瘤（MM）及其前体状况MGUS的特征是染色体畸变。在这里，我们使用500个MGUS和MM样本全面表征了这些复杂基因组事件的发生顺序，这些事件是MM发展的基础。我们将超二倍体MM（HMM）和非HMM识别为基因组不同的实体，具有不同的拷贝数变化演变。在HMM中，第一个事件以及克隆事件都是在MGUS阶段观察到的，分别为9,15或19。因此，这些事件为早期事件，可能是正常浆细胞向MGUS细胞初始转化的基础。但是，CNA可能不足以进展为MM，除非在MMUS中观察到复杂亚克隆缺失事件的患者中有15％，而在MGUS中则没有。在NHMM中，除了驱动程序易位之外，在MGUS中也观察到了13和1q增益的克隆缺失是早期事件。我们结合了这些信息，提出了更改拷贝数的时间表。

更新日期：2019-11-18

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