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多组学分析鉴定出非裔美国人急性髓系白血病患者生存的预测因子。

Multiomic profiling identifies predictors of survival in African American patients with acute myeloid leukemia.

机构信息

The Ohio State University Comprehensive Cancer Center, Columbus, OH, USA.

Department of Cell Biology, Erasmus Medical Center, Rotterdam, the Netherlands.

出版信息

Nat Genet. 2024 Nov;56(11):2434-2446. doi: 10.1038/s41588-024-01929-x. Epub 2024 Oct 4.

DOI:10.1038/s41588-024-01929-x
PMID:39367245
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11549055/
Abstract

Genomic profiles and prognostic biomarkers in patients with acute myeloid leukemia (AML) from ancestry-diverse populations are underexplored. We analyzed the exomes and transcriptomes of 100 patients with AML with genomically confirmed African ancestry (Black; Alliance) and compared their somatic mutation frequencies with those of 323 self-reported white patients with AML, 55% of whom had genomically confirmed European ancestry (white; BeatAML). Here we find that 73% of 162 gene mutations recurrent in Black patients, including a hitherto unreported PHIP alteration detected in 7% of patients, were found in one white patient or not detected. Black patients with myelodysplasia-related AML were younger than white patients suggesting intrinsic and/or extrinsic dysplasia-causing stressors. On multivariable analyses of Black patients, NPM1 and NRAS mutations were associated with inferior disease-free and IDH1 and IDH2 mutations with reduced overall survival. Inflammatory profiles, cell type distributions and transcriptional profiles differed between Black and white patients with NPM1 mutations. Incorporation of ancestry-specific risk markers into the 2022 European LeukemiaNet genetic risk stratification changed risk group assignment for one-third of Black patients and improved their outcome prediction.

摘要

来自不同种族背景的急性髓系白血病（AML）患者的基因组特征和预后生物标志物研究较少。我们分析了 100 名具有明确非洲血统（黑人；Alliance）的 AML 患者的外显子组和转录组，并将其体细胞突变频率与 323 名自我报告的 AML 白人患者（白人；BeatAML）进行了比较，其中 55%具有明确的欧洲血统。在这里，我们发现，在黑人患者中重复出现的 162 种基因突变中的 73%，包括此前在 7%的患者中发现的未报告的 PHIP 改变，在一名白人患者中存在或未检测到。患有骨髓增生异常相关 AML 的黑人患者比白人患者年轻，这表明存在内在和/或外在的致发育不良应激源。在对黑人患者的多变量分析中，NPM1 和 NRAS 突变与无病生存不良相关，IDH1 和 IDH2 突变与总生存时间缩短相关。NPM1 突变的黑人和白人患者之间的炎症特征、细胞类型分布和转录谱存在差异。将特定于种族的风险标志物纳入 2022 年欧洲白血病网络遗传风险分层，改变了三分之一黑人患者的风险组分配，并改善了他们的预后预测。

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