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位置,位置,还是位置:急性髓系白血病患者变异情况的小型综述

Location, location, location: A mini-review of variants in patients with acute myeloid leukemia.

作者信息

Faisal Muhammad Salman, Sung Pamela J

机构信息

Department of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

Department of Pharmacology & Therapeutics, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.

出版信息

Leuk Res Rep. 2023 Aug 27;20:100386. doi: 10.1016/j.lrr.2023.100386. eCollection 2023.

DOI:10.1016/j.lrr.2023.100386
PMID:37680323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10480322/
Abstract

variants are frequently recurring in acute myeloid leukemia (AML). The prognostic significance of mutations has recently undergone a major shift in the 5th edition of WHO classification of hematological neoplasms and ELN 2022 classification. Whereas prior iterations did not specify the type of mutation, the updated schema specify that only mutations localized to the C-terminal basic zipper (bZIP) domain are considered prognostically favorable. This change is based primarily on three recently published large datasets evaluating the prognostic significance of mutation location in mutant AML. Here, we review the evolution of the prognostic classification of variants.

摘要

变异在急性髓系白血病(AML)中经常出现。在世界卫生组织血液肿瘤分类第5版和2022年欧洲白血病网络(ELN)分类中,突变的预后意义最近发生了重大转变。先前的版本未明确突变类型,而更新后的方案明确指出,只有定位于C端碱性拉链(bZIP)结构域的突变才被认为具有预后优势。这一变化主要基于最近发表的三个大型数据集,这些数据集评估了突变型AML中突变位置的预后意义。在此,我们回顾了变异预后分类的演变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8b/10480322/a5abbd84b04a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8b/10480322/bc54e9b5cf75/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8b/10480322/a5abbd84b04a/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8b/10480322/bc54e9b5cf75/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b8b/10480322/a5abbd84b04a/gr2.jpg

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本文引用的文献

1
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
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CEBPA bZIP 结构域突变对急性髓系白血病的预后影响。
Blood Adv. 2022 Jan 11;6(1):238-247. doi: 10.1182/bloodadvances.2021004292.
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CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.CEBPA 基因突变在 4708 例急性髓系白血病患者中的作用:bZIP 和 TAD 突变对预后的不同影响。
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Blood. 2017 Jan 26;129(4):424-447. doi: 10.1182/blood-2016-08-733196. Epub 2016 Nov 28.
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Genomic Classification and Prognosis in Acute Myeloid Leukemia.急性髓系白血病的基因组分类与预后
N Engl J Med. 2016 Jun 9;374(23):2209-2221. doi: 10.1056/NEJMoa1516192.
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The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
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Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: further evidence for CEBPA double mutant AML as a distinctive disease entity.CEBPA 突变的 AML 患者中 1182 例核型正常 AML 患者的预后影响、并发基因突变和基因表达特征:CEBPA 双突变 AML 作为一种独特疾病实体的进一步证据。
Blood. 2011 Feb 24;117(8):2469-75. doi: 10.1182/blood-2010-09-307280. Epub 2010 Dec 21.
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Blood. 2011 Jan 6;117(1):221-33. doi: 10.1182/blood-2010-02-270181. Epub 2010 Sep 30.