Chromothripsis And Chromoplexy Are Associated With Dna Instability And Adverse Clinical Outcome In Multiple Myeloma

BLOOD(2018)

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摘要
Introduction: Chromothripsis and chromoplexy are gross structural events that deregulate multiple genes simultaneously and may help explain rapid changes in clinical behavior. Previous screening studies in multiple myeloma (MM) using copy number arrays have identified chromothripsis at a low frequency (1.3%) and suggested it adversely impacts prognosis. Here, using whole genome sequencing (WGS) data we have identified a higher frequency of these events, suggesting they are more common than previously thought.
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