恶性血液病的表观基因组学见解和计算进展。

IF 1.3 4区 生物学 Q4 GENETICS & HEREDITY
Carolyn Lauzon-Young, Ananilia Silva, Bekim Sadikovic
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引用次数: 0

摘要

血液恶性肿瘤(HMs)包括起源于血液、骨髓和淋巴系统的多种癌症,髓系恶性肿瘤是一个重要而复杂的子集。这篇综述提供了对其分类、流行和发病率的重点分析,强调了其复杂的遗传和表观遗传景观在临床诊断和治疗中带来的持续挑战。髓系恶性肿瘤的遗传基础,包括染色体易位、体细胞突变和拷贝数变异,与表观遗传修饰一起详细研究,特别强调DNA甲基化。我们探索遗传和表观遗传因素之间的动态相互作用,展示这些机制如何共同塑造疾病进展、治疗耐药性和临床结果。诊断方式的进步,特别是那些整合表观基因组的见解,正在彻底改变HMs的精确诊断。讨论了纳米造影剂、光学成像、流式细胞术、循环肿瘤DNA分析和体细胞突变检测等关键方法,特别关注机器学习在表观遗传数据分析中的变革作用。DNA甲基化表观特征已经成为一种关键的工具,使高灵敏度和特异性的诊断和预后分析得以发展,目前正在临床实践中采用。我们还回顾了计算进步和数据集成在改进诊断和治疗策略方面的影响。通过结合基因组和表观基因组分析技术,这些创新正在加速生物标志物的发现和临床转化,在精确肿瘤学中的应用越来越明显。综合基因组数据集与人工智能相结合,正在推动对髓系恶性肿瘤生物学的可操作见解,并促进患者管理策略的优化。最后,本综述强调了这些进步的转化潜力,重点是它们对患者护理和结果的切实益处。通过综合当前的知识和最新的创新,我们强调了精准医学和表观基因组研究在改变髓系恶性肿瘤的诊断和治疗中的关键作用,为持续的进步和更广泛的临床应用奠定了基础。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epigenomic insights and computational advances in hematologic malignancies.

Hematologic malignancies (HMs) encompass a diverse spectrum of cancers originating from the blood, bone marrow, and lymphatic systems, with myeloid malignancies representing a significant and complex subset. This review provides a focused analysis of their classification, prevalence, and incidence, highlighting the persistent challenges posed by their intricate genetic and epigenetic landscapes in clinical diagnostics and therapeutics. The genetic basis of myeloid malignancies, including chromosomal translocations, somatic mutations, and copy number variations, is examined in detail, alongside epigenetic modifications with a specific emphasis on DNA methylation. We explore the dynamic interplay between genetic and epigenetic factors, demonstrating how these mechanisms collectively shape disease progression, therapeutic resistance, and clinical outcomes. Advances in diagnostic modalities, particularly those integrating epigenomic insights, are revolutionizing the precision diagnosis of HMs. Key approaches such as nano-based contrast agents, optical imaging, flow cytometry, circulating tumor DNA analysis, and somatic mutation testing are discussed, with particular attention to the transformative role of machine learning in epigenetic data analysis. DNA methylation episignatures have emerged as a pivotal tool, enabling the development of highly sensitive and specific diagnostic and prognostic assays that are now being adopted in clinical practice. We also review the impact of computational advancements and data integration in refining diagnostic and therapeutic strategies. By combining genomic and epigenomic profiling techniques, these innovations are accelerating biomarker discovery and clinical translation, with applications in precision oncology becoming increasingly evident. Comprehensive genomic datasets, coupled with artificial intelligence, are driving actionable insights into the biology of myeloid malignancies and facilitating the optimization of patient management strategies. Finally, this review emphasizes the translational potential of these advancements, focusing on their tangible benefits for patient care and outcomes. By synthesizing current knowledge and recent innovations, we underscore the critical role of precision medicine and epigenomic research in transforming the diagnosis and treatment of myeloid malignancies, setting the stage for ongoing advancements and broader clinical implementation.

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来源期刊
Molecular Cytogenetics
Molecular Cytogenetics GENETICS & HEREDITY-
CiteScore
2.60
自引率
7.70%
发文量
49
审稿时长
>12 weeks
期刊介绍: Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.
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