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基因突变在急性髓系白血病中的作用:一篇综述文章。

Role of Gene Mutations in Acute Myeloid Leukemia: A Review Article.

作者信息

Singh Himanshu, Kumar Magesh, Kanungo Himanshu

机构信息

Department of Oral and Maxillofacial Pathology and Oral Microbiology, Index Institute of Dental Sciences, Indore, Madhya Pradesh, India.

Department of Periodontics, Index Institute of Dental Sciences, Indore, Madhya Pradesh, India.

出版信息

Glob Med Genet. 2023 Jun 23;10(2):123-128. doi: 10.1055/s-0043-1770768. eCollection 2023 Jun.

DOI:10.1055/s-0043-1770768
PMID:37360004
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10289861/
Abstract

Acute myeloid leukemia (AML) is an immensely heterogeneous disease characterized by the clonal growth of promyelocytes or myeloblasts in bone marrow as well as in peripheral blood or tissue. Enhancement in the knowledge of the molecular biology of cancer and recognition of intermittent mutations in AML contribute to favorable circumstances to establish targeted therapies and enhance the clinical outcome. There is high interest in the development of therapies that target definitive abnormalities in AML while eradicating leukemia-initiating cells. In recent years, there has been a better knowledge of the molecular abnormalities that lead to the progression of AML, and the application of new methods in molecular biology techniques has increased that facilitating the advancement of investigational drugs. In this review, literature or information on various gene mutations for AML is discussed. English language articles were scrutinized in plentiful directories or databases like PubMed, Science Direct, Web of Sciences, Google Scholar, and Scopus. The important keywords used for searching databases is "Acute myeloid leukemia", "Gene mutation in Acute myeloid leukemia", "Genetic alteration in Acute myeloid leukemia," and "Genetic abnormalities in Acute myeloid leukemia."

摘要

急性髓系白血病(AML)是一种高度异质性疾病,其特征是骨髓以及外周血或组织中早幼粒细胞或原始粒细胞的克隆性增殖。癌症分子生物学知识的增强以及对AML中间歇性突变的认识为建立靶向治疗和改善临床结果创造了有利条件。开发针对AML明确异常同时根除白血病起始细胞的疗法备受关注。近年来,人们对导致AML进展的分子异常有了更深入的了解,分子生物学技术新方法的应用增加了这方面的认识,促进了研究性药物的发展。在这篇综述中,讨论了有关AML各种基因突变的文献或信息。在多个数据库或文献目录(如PubMed、Science Direct、Web of Sciences、Google Scholar和Scopus)中仔细查阅了英文文章。用于搜索数据库的重要关键词是“急性髓系白血病”、“急性髓系白血病中的基因突变”、“急性髓系白血病中的基因改变”以及“急性髓系白血病中的基因异常”。

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本文引用的文献

1
Single-cell genomics in AML: extending the frontiers of AML research.单细胞基因组学在 AML 中的应用:拓展 AML 研究的前沿领域。
Blood. 2023 Jan 26;141(4):345-355. doi: 10.1182/blood.2021014670.
2
Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN.成人 AML 的诊断与治疗:ELN 专家组代表发布的 2022 年国际专家建议
Blood. 2022 Sep 22;140(12):1345-1377. doi: 10.1182/blood.2022016867.
3
Sorafenib and omacetaxine mepesuccinate as a safe and effective treatment for acute myeloid leukemia carrying internal tandem duplication of Fms-like tyrosine kinase 3.索拉非尼和奥马曲星甲酸盐治疗 Fms 样酪氨酸激酶 3 内部串联重复的急性髓系白血病的安全性和有效性。
Cancer. 2020 Jan 15;126(2):344-353. doi: 10.1002/cncr.32534. Epub 2019 Oct 3.
4
Sorafenib plus intensive chemotherapy improves survival in patients with newly diagnosed, FLT3-internal tandem duplication mutation-positive acute myeloid leukemia.索拉非尼联合强化化疗可改善初诊、FLT3 内部串联重复突变阳性急性髓系白血病患者的生存。
Cancer. 2019 Nov 1;125(21):3755-3766. doi: 10.1002/cncr.32387. Epub 2019 Jul 16.
5
Gilteritinib: First Global Approval.吉特替尼:全球首次批准。
Drugs. 2019 Feb;79(3):331-339. doi: 10.1007/s40265-019-1062-3.
6
Clinical resistance to crenolanib in acute myeloid leukemia due to diverse molecular mechanisms.急性髓系白血病中因不同分子机制导致对克立硼烷耐药。
Nat Commun. 2019 Jan 16;10(1):244. doi: 10.1038/s41467-018-08263-x.
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Mutant ASXL1 cooperates with BAP1 to promote myeloid leukaemogenesis.突变型 ASXL1 与 BAP1 协同促进髓系白血病发生。
Nat Commun. 2018 Jul 16;9(1):2733. doi: 10.1038/s41467-018-05085-9.
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Phase 1 study of quizartinib in combination with induction and consolidation chemotherapy in patients with newly diagnosed acute myeloid leukemia.一项在新诊断为急性髓系白血病患者中进行的quizartinib 联合诱导和巩固化疗的 1 期研究。
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