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时间基因组动力学塑造多发性骨髓瘤的临床病程

Temporal Genomic Dynamics Shape Clinical Trajectory in Multiple Myeloma.

作者信息

Maura Francesco, Kaddoura Marcella, Poos Alexandra M, Baughn Linda B, Ziccheddu Bachisio, Bärtsch Marc-Andrea, Cirrincione Anthony, Maclachlan Kylee, Chojnacka Monika, Diamond Benjamin, Papadimitriou Marios, Blaney Patrick, John Lukas, Reichert Philipp, Huhn Stefanie, Gagler Dylan, Zhang Yanming, Dogan Ahmet, Lesokhin Alexander M, Davies Faith, Goldschmidt Hartmut, Fenk Roland, Weisel Katja C, Mai Elias K, Korde Neha, Morgan Gareth J, Rajkumar S Vincent, Kumar Shaji, Usmani Saad, Landgren Ola, Raab Marc S, Weinhold Niels

出版信息

bioRxiv. 2024 Sep 4:2024.08.30.610457. doi: 10.1101/2024.08.30.610457.

DOI:10.1101/2024.08.30.610457
PMID:39282268
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11398314/
Abstract

To comprehensively unravel the temporal relationship between initiating and driver events and its impact on clinical outcomes, we analyzed 421 whole-genome sequencing profiles from 382 patients. Using clock-like mutational signatures, we estimated a time lag of 2-4 decades between initiating events and diagnosis. In patients with hyperdiploidy, we demonstrate that trisomies of odd-numbered chromosomes can be acquired simultaneously with other chromosomal gains, such as 1q gain. We provide evidence that hyperdiploidy is acquired after canonical IGH translocation when both events are present. Finally, patients with early 1q gain had adverse outcomes similar to those with 1q amplification (>1 extra-copies), but faring worse than those with late 1q gain. This underscores that the prognostic impact of 1q gain/amp depends more on the timing of acquisition than on the number of extra copies gained. Overall, this study contributes to a better understanding of the life history of MM and may have prognostic implications.

摘要

为全面揭示起始事件与驱动事件之间的时间关系及其对临床结果的影响,我们分析了382例患者的421份全基因组测序图谱。利用类似时钟的突变特征,我们估计起始事件与诊断之间的时间间隔为2至4十年。在超二倍体患者中,我们证明奇数染色体三体可与其他染色体增加(如1q增加)同时获得。我们提供证据表明,当这两个事件都存在时,超二倍体是在典型的IGH易位之后获得的。最后,早期1q增加的患者的不良预后与1q扩增(>1个额外拷贝)的患者相似,但比晚期1q增加的患者情况更差。这强调了1q增加/扩增的预后影响更多地取决于获得的时间,而不是获得的额外拷贝数。总体而言,这项研究有助于更好地理解MM的生命历程,可能具有预后意义。

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