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急性髓系白血病中的突变

mutations in acute myeloid leukemia.

作者信息

Byun Ja Min, Yoo Seung-Joo, Kim Hyeong-Joon, Ahn Jae-Sook, Koh Youngil, Jang Jun Ho, Yoon Sung-Soo

机构信息

Department of Internal Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.

Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea.

出版信息

Blood Res. 2022 Mar 31;57(1):13-19. doi: 10.5045/br.2021.2021152.

Abstract

The mutational and epigenetic landscape of acute myeloid leukemia (AML) has become increasingly well understood in recent years, informing on biological targets for precision medicine. Among the most notable findings was the recognition of mutational hot-spots in the isocitrate dehydrogenase () genes. In this review, we provide an overview on the mutation landscape in Korean AML patients, and compare it with available public data. We also discuss the role of mutations as biomarkers and drug targets. Taken together, occurrence of mutations is becoming increasingly important in AML treatment, thus requiring thorough examination and follow-up throughout the clinical course of the disease.

摘要

近年来,急性髓系白血病(AML)的突变和表观遗传格局已越来越为人所熟知,这为精准医学的生物学靶点提供了依据。其中最显著的发现之一是异柠檬酸脱氢酶()基因中突变热点的识别。在本综述中,我们概述了韩国AML患者中的突变格局,并将其与现有的公开数据进行比较。我们还讨论了突变作为生物标志物和药物靶点的作用。综上所述,突变的发生在AML治疗中变得越来越重要,因此在疾病的整个临床过程中都需要进行全面的检查和随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d9c/8958365/d952eb7cd266/br-57-1-13-f1.jpg

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