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DNA/RNA测序进展及其在急性髓系白血病(AML)中的应用

Advances in DNA/RNA Sequencing and Their Applications in Acute Myeloid Leukemia (AML).

作者信息

Ahmed Fatimah, Zhong Jiang

机构信息

Department of Basic Sciences, Loma Linda University School of Medicine, Loma Linda, CA 92350, USA.

出版信息

Int J Mol Sci. 2024 Dec 25;26(1):71. doi: 10.3390/ijms26010071.

Abstract

Acute myeloid leukemia (AML) is an aggressive malignancy that poses significant challenges due to high rates of relapse and resistance to treatment, particularly in older populations. While therapeutic advances have been made, survival outcomes remain suboptimal. The evolution of DNA and RNA sequencing technologies, including whole-genome sequencing (WGS), whole-exome sequencing (WES), and RNA sequencing (RNA-Seq), has significantly enhanced our understanding of AML at the molecular level. These technologies have led to the discovery of driver mutations and transcriptomic alterations critical for improving diagnosis, prognosis, and personalized therapy development. Furthermore, single-cell RNA sequencing (scRNA-Seq) has uncovered rare subpopulations of leukemia stem cells (LSCs) contributing to disease progression and relapse. However, widespread clinical integration of these tools remains limited by costs, data complexity, and ethical challenges. This review explores recent advancements in DNA/RNA sequencing in AML and highlights both the potential and limitations of these techniques in clinical practice.

摘要

急性髓系白血病(AML)是一种侵袭性恶性肿瘤,由于复发率高和对治疗耐药,尤其是在老年人群中,带来了重大挑战。尽管治疗取得了进展,但生存结果仍不尽人意。DNA和RNA测序技术的发展,包括全基因组测序(WGS)、全外显子组测序(WES)和RNA测序(RNA-Seq),显著增强了我们在分子水平上对AML的理解。这些技术导致了驱动突变和转录组改变的发现,这些对于改善诊断、预后和个性化治疗的发展至关重要。此外,单细胞RNA测序(scRNA-Seq)揭示了导致疾病进展和复发的罕见白血病干细胞(LSC)亚群。然而,这些工具在临床上的广泛应用仍然受到成本、数据复杂性和伦理挑战的限制。本综述探讨了AML中DNA/RNA测序的最新进展,并强调了这些技术在临床实践中的潜力和局限性。

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