Nature communications · 2021
Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Maclachlan Kylee H, Rustad Even H, Derkach Andriy, Zheng-Lin Binbin, Yellapantula Venkata, Diamond Benjamin, Hultcrantz Malin, Ziccheddu Bachisio, Boyle Eileen M, Blaney Patrick, Bolli Niccolò, Zhang Yanming, Dogan Ahmet, Lesokhin Alexander M, Morgan Gareth J, Landgren Ola, Maura Francesco
Аннотация
Chromothripsis is detectable in 20-30% of newly diagnosed multiple myeloma (NDMM) patients and is emerging as a new independent adverse prognostic factor. In this study we interrogate 752 NDMM patients using whole genome sequencing (WGS) to investigate the relationship of copy number (CN) signatures to chromothripsis and show they are highly associated. CN signatures are highly predictive of the presence of chromothripsis (AUC = 0.90) and can be used identify its adverse prognostic impact. The ability of CN signatures to predict the presence of chromothripsis is confirmed in a validation series of WGS comprised of 235 hematological cancers (AUC = 0.97) and an independent series of 34 NDMM (AUC = 0.87). We show that CN signatures can also be derived from whole exome data (WES) and using 677 cases from the same series of NDMM, we are able to predict both the presence of chromothripsis (AUC = 0.82) and its adverse prognostic impact. CN signatures constitute a flexible tool to identify the presence of chromothripsis and is applicable to WES and WGS data.