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基因的多方面作用:从实验室到临床的视角

Multifaceted roles of gene, perspectives from bench to bedside.

作者信息

Feng Lin, Zhang Hang, Liu Ting

机构信息

Department of Hematology, Institute of Hematology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.

出版信息

Front Oncol. 2024 Jun 24;14:1383419. doi: 10.3389/fonc.2024.1383419. eCollection 2024.

DOI:10.3389/fonc.2024.1383419
PMID:38978740
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11228169/
Abstract

The gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The protein product, IKAROS, had been proved to regulate lymphopoiesis. Subsequent mouse model studies have further confirmed its regulating role in lymphopoiesis as well as in hematopoiesis; besides, it associates with immune function, certain immune disorders like common variable immunodeficiency and dysgammaglobulinemia have been proved to be associated with germline mutations. Dysfunction of IKAROS also bears paramount significance in leukemic transformation and alterations of gene predicts a poor prognosis in hematological malignancies. As an independent prognostic marker, has been incorporated in the risk stratification of BCP-ALL and stratification-guided therapy has also been generated. In this review, we provide a concise and comprehensive overview on the multifaceted roles of gene.

摘要

该基因编码一种转录因子,属于与染色质重塑相关的锌指DNA结合蛋白家族。其蛋白质产物IKAROS已被证明可调节淋巴细胞生成。随后的小鼠模型研究进一步证实了其在淋巴细胞生成以及造血过程中的调节作用;此外,它与免疫功能相关,已证明某些免疫疾病如常见变异免疫缺陷和免疫球蛋白异常血症与种系突变有关。IKAROS功能障碍在白血病转化中也具有至关重要的意义,基因改变预示着血液系统恶性肿瘤的预后不良。作为一个独立的预后标志物,它已被纳入B细胞前体急性淋巴细胞白血病的风险分层,并且也产生了分层指导治疗。在本综述中,我们对该基因的多方面作用提供了简明而全面的概述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/cba505140fac/fonc-14-1383419-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/a765bc124ff4/fonc-14-1383419-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/b7600a2239cf/fonc-14-1383419-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/7ede3f31b60e/fonc-14-1383419-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/cba505140fac/fonc-14-1383419-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/a765bc124ff4/fonc-14-1383419-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/b7600a2239cf/fonc-14-1383419-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/7ede3f31b60e/fonc-14-1383419-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ea0c/11228169/cba505140fac/fonc-14-1383419-g004.jpg

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本文引用的文献

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Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia.IKZF1 突变是急性髓系白血病不良风险的独立标志物。
Leukemia. 2023 Dec;37(12):2395-2403. doi: 10.1038/s41375-023-02061-1. Epub 2023 Oct 13.
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Transcription factor abnormalities in B-ALL leukemogenesis and treatment.
孟德尔随机化分析揭示了IKZF1基因作为结直肠癌治疗靶点的潜力。
Discov Oncol. 2025 May 21;16(1):838. doi: 10.1007/s12672-025-02683-0.
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Integrative Insights into Philadelphia-like B-Cell Acute Lymphoblastic Leukemia: A Genetic and Molecular Landscape.对费城样B细胞急性淋巴细胞白血病的综合见解:遗传和分子图谱
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B-ALL 白血病发生和治疗中的转录因子异常。
Trends Cancer. 2023 Oct;9(10):855-870. doi: 10.1016/j.trecan.2023.06.004. Epub 2023 Jul 3.
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Identification of IKZF1 genetic mutations as new molecular subtypes in acute myeloid leukaemia.鉴定 IKZF1 基因突变作为急性髓细胞白血病的新分子亚型。
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Definition and Prognostic Value of Ph-like and IKZF1plus Status in Children With Down Syndrome and B-cell Precursor Acute Lymphoblastic Leukemia.唐氏综合征和B细胞前体急性淋巴细胞白血病患儿中Ph样和IKZF1加状态的定义及预后价值
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The clinical impact of IKZF1 mutation in acute myeloid leukemia.IKZF1突变在急性髓系白血病中的临床影响。
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Germline mutations and their impact on immunity: IKAROS-associated diseases and pathophysiology.胚系突变及其对免疫的影响:IKAROS 相关疾病及其病理生理学。
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