Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.

IF 2.7 3区 医学 Q2 HEMATOLOGY Current Hematologic Malignancy Reports Pub Date : 2023-10-01 Epub Date: 2023-06-01 DOI:10.1007/s11899-023-00699-3
Ji Yuan, Rong He, Hassan B Alkhateeb
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Abstract

Purpose of review: CCAAT enhancer binding protein A (CEBPA) gene mutation is one of the common genetic alterations in acute myeloid leukemia (AML), which can be associated with sporadic and familial AML.

Recent findings: Due to the recent advances in molecular testing and the prognostic role of CEBPA mutation in AML, the definition for AML with CEBPA mutation (AML-CEBPA) has significantly changed. This review provides the rationale for the updates on classifications, and the impacts on laboratory evaluation and clinical management for sporadic and familial AML-CEBPA patients. In addition, minimal residual disease assessment post therapy to stratify disease risk and stem cell transplant in selected AML-CEBPA patients are discussed. Taken together, the recent progresses have shifted the definition, identification, and management of patients with AML-CEBPA.

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CEBPA突变的散发性和家族性急性髓细胞白血病。
综述目的:CCAAT增强子结合蛋白A(CEBPA)基因突变是急性粒细胞白血病(AML)常见的遗传改变之一,可能与散发性和家族性AML有关。最近的发现:由于分子检测的最新进展以及CEBPA突变在AML中的预后作用,具有CEBPA突变的AML(AML-CEBPA)的定义已经显著改变。这篇综述为散发性和家族性AML-CBPA患者的分类更新以及对实验室评估和临床管理的影响提供了基本原理。此外,还讨论了在选定的AML-CEBPA患者中,对治疗后疾病风险进行分层的最小残留疾病评估和干细胞移植。总之,最近的进展已经改变了AML-CBPA患者的定义、识别和管理。
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来源期刊
CiteScore
6.00
自引率
0.00%
发文量
28
审稿时长
>12 weeks
期刊介绍: his journal intends to provide clear, insightful, balanced contributions by international experts that review the most important, recently published clinical findings related to the diagnosis, treatment, management, and prevention of hematologic malignancy. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as leukemia, lymphoma, myeloma, and T-cell and other lymphoproliferative malignancies. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
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