组学在急性髓系白血病诊断、预后及治疗中的应用。

Application of omics in the diagnosis, prognosis, and treatment of acute myeloid leukemia.

作者信息

Zhang Zhiyu, Huang Jiayi, Zhang Zhibo, Shen Hongjie, Tang Xiaowen, Wu Depei, Bao Xiebing, Xu Guoqiang, Chen Suning

机构信息

National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University, Suzhou, China.

Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Jiangsu Province Engineering Research Center of Precision Diagnostics and Therapeutics Development, Jiangsu Key Laboratory of Preventive and Translational Medicine for Geriatric Diseases, Suzhou Key Laboratory of Drug Research for Prevention and Treatment of Hyperlipidemic Diseases, Soochow University, Suzhou, 215123, Jiangsu, China.

出版信息

Biomark Res. 2024 Jun 10;12(1):60. doi: 10.1186/s40364-024-00600-1.

Abstract

Acute myeloid leukemia (AML) is the most frequent leukemia in adults with a high mortality rate. Current diagnostic criteria and selections of therapeutic strategies are generally based on gene mutations and cytogenetic abnormalities. Chemotherapy, targeted therapies, and hematopoietic stem cell transplantation (HSCT) are the major therapeutic strategies for AML. Two dilemmas in the clinical management of AML are related to its poor prognosis. One is the inaccurate risk stratification at diagnosis, leading to incorrect treatment selections. The other is the frequent resistance to chemotherapy and/or targeted therapies. Genomic features have been the focus of AML studies. However, the DNA-level aberrations do not always predict the expression levels of genes and proteins and the latter is more closely linked to disease phenotypes. With the development of high-throughput sequencing and mass spectrometry technologies, studying downstream effectors including RNA, proteins, and metabolites becomes possible. Transcriptomics can reveal gene expression and regulatory networks, proteomics can discover protein expression and signaling pathways intimately associated with the disease, and metabolomics can reflect precise changes in metabolites during disease progression. Moreover, omics profiling at the single-cell level enables studying cellular components and hierarchies of the AML microenvironment. The abundance of data from different omics layers enables the better risk stratification of AML by identifying prognosis-related biomarkers, and has the prospective application in identifying drug targets, therefore potentially discovering solutions to the two dilemmas. In this review, we summarize the existing AML studies using omics methods, both separately and combined, covering research fields of disease diagnosis, risk stratification, prognosis prediction, chemotherapy, as well as targeted therapy. Finally, we discuss the directions and challenges in the application of multi-omics in precision medicine of AML. Our review may inspire both omics researchers and clinical physicians to study AML from a different angle.

摘要

急性髓系白血病(AML)是成人中最常见的白血病,死亡率很高。目前的诊断标准和治疗策略的选择通常基于基因突变和细胞遗传学异常。化疗、靶向治疗和造血干细胞移植(HSCT)是AML的主要治疗策略。AML临床管理中的两个困境与其预后不良有关。一个是诊断时风险分层不准确,导致治疗选择错误。另一个是对化疗和/或靶向治疗的频繁耐药。基因组特征一直是AML研究的重点。然而,DNA水平的畸变并不总是能预测基因和蛋白质的表达水平,而后者与疾病表型的联系更为密切。随着高通量测序和质谱技术的发展,研究包括RNA、蛋白质和代谢物在内的下游效应物成为可能。转录组学可以揭示基因表达和调控网络,蛋白质组学可以发现与疾病密切相关的蛋白质表达和信号通路,代谢组学可以反映疾病进展过程中代谢物的精确变化。此外,单细胞水平的组学分析能够研究AML微环境的细胞组成和层次结构。来自不同组学层面的大量数据能够通过识别与预后相关的生物标志物对AML进行更好的风险分层,并在识别药物靶点方面具有前瞻性应用,因此有可能找到解决这两个困境的方法。在本综述中,我们总结了现有的使用组学方法的AML研究,包括单独使用和联合使用,涵盖疾病诊断、风险分层、预后预测、化疗以及靶向治疗等研究领域。最后,我们讨论了多组学在AML精准医学应用中的方向和挑战。我们的综述可能会激发组学研究人员和临床医生从不同角度研究AML。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8726/11165883/ae5383d22a6a/40364_2024_600_Fig1_HTML.jpg

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