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调控小儿急性髓细胞白血病的表观基因组机制:克隆扩增机制、治疗方法和未来展望。

Epigenomic machinery regulating pediatric AML: Clonal expansion mechanisms, therapies, and future perspectives.

机构信息

Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.

Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy; Princess Máxima Center, Heidelberglaan 25, 3584 CS, Utrecht, the Netherlands.

出版信息

Semin Cancer Biol. 2023 Jul;92:84-101. doi: 10.1016/j.semcancer.2023.03.009. Epub 2023 Mar 31.

Abstract

Acute myeloid leukemia (AML) is a heterogeneous disease with a genetic, epigenetic, and transcriptional etiology mainly presenting somatic and germline abnormalities. AML incidence rises with age but can also occur during childhood. Pediatric AML (pAML) accounts for 15-20% of all pediatric leukemias and differs considerably from adult AML. Next-generation sequencing technologies have enabled the research community to "paint" the genomic and epigenomic landscape in order to identify pathology-associated mutations and other prognostic biomarkers in pAML. Although current treatments have improved the prognosis for pAML, chemoresistance, recurrence, and refractory disease remain major challenges. In particular, pAML relapse is commonly caused by leukemia stem cells that resist therapy. Marked patient-to-patient heterogeneity is likely the primary reason why the same treatment is successful for some patients but, at best, only partially effective for others. Accumulating evidence indicates that patient-specific clonal composition impinges significantly on cellular processes, such as gene regulation and metabolism. Although our understanding of metabolism in pAML is still in its infancy, greater insights into these processes and their (epigenetic) modulation may pave the way toward novel treatment options. In this review, we summarize current knowledge on the function of genetic and epigenetic (mis)regulation in pAML, including metabolic features observed in the disease. Specifically, we describe how (epi)genetic machinery can affect chromatin status during hematopoiesis, leading to an altered metabolic profile, and focus on the potential value of targeting epigenetic abnormalities in precision and combination therapy for pAML. We also discuss the possibility of using alternative epidrug-based therapeutic approaches that are already in clinical practice, either alone as adjuvant treatments and/or in combination with other drugs.

摘要

急性髓细胞白血病(AML)是一种具有遗传、表观遗传和转录病因的异质性疾病,主要表现为体细胞和种系异常。AML 的发病率随年龄增长而上升,但也可发生于儿童期。儿童急性髓细胞白血病(pAML)占所有儿童白血病的 15-20%,与成人 AML 有很大的不同。下一代测序技术使研究界能够“绘制”基因组和表观基因组图谱,以确定 pAML 中与病理学相关的突变和其他预后生物标志物。尽管目前的治疗方法已经改善了 pAML 的预后,但化疗耐药、复发和难治性疾病仍然是主要挑战。特别是,pAML 复发通常是由抵抗治疗的白血病干细胞引起的。明显的个体间异质性可能是同一治疗方法对某些患者有效而对其他患者效果有限的主要原因。越来越多的证据表明,患者特异性克隆组成对细胞过程(如基因调控和代谢)有重大影响。尽管我们对 pAML 代谢的理解仍处于起步阶段,但对这些过程及其(表观遗传)调节的更深入了解可能为新的治疗选择铺平道路。在这篇综述中,我们总结了目前关于遗传和表观遗传(失调)调节在 pAML 中的作用的知识,包括该疾病中观察到的代谢特征。具体来说,我们描述了(表观遗传)机制如何在造血过程中影响染色质状态,导致代谢谱发生改变,并重点关注靶向表观遗传异常在 pAML 精准和联合治疗中的潜在价值。我们还讨论了使用已经在临床实践中使用的替代表型药物治疗方法的可能性,这些方法可以单独作为辅助治疗,或者与其他药物联合使用。

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