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单细胞测序在急性髓系白血病中的应用

Single-cell sequencing applications in acute myeloid leukemia.

作者信息

Lecornec Nicolas, Duchmann Matthieu, Itzykson Raphael

机构信息

Génomes, Biologie Cellulaire et Thérapeutique U944, INSERM, CNRS, Université Paris Cité, Paris, France.

Département d'Immuno-Hématologie Pédiatrique, Hôpital Robert-Debré, Assistance Publique Hôpitaux de Paris (AP-HP), Université Paris Cité, Paris, France.

出版信息

Leuk Lymphoma. 2025 Feb;66(2):175-189. doi: 10.1080/10428194.2024.2422833. Epub 2024 Nov 4.

Abstract

Acute myeloid leukemia (AML) is a heterogeneous group of malignancies with poor prognosis. AML result from the proliferation of immature myeloid cells blocked at a variable stage of differentiation. Beyond inter-patient heterogeneity, AMLs are characterized by genetic and phenotypic intra-patient heterogeneity. Despite major advances in deciphering AML biology with bulk sequencing studies, pivotal questions remain unanswered. Analyses at the single-cell level could thus transform our understanding of these neoplasms. We review recent progresses in single-cell sequencing technologies from cell processing to bioinformatic pipelines. We next discuss how single-cell applications have helped understand the genetic and functional intra-leukemic heterogeneity, emphasizing aspects related to leukemic stem cells, clonal evolution and measurable residual disease (MRD) monitoring. We finally delineate how single-cell technologies could be implemented in routine clinical practice to improve patient management.

摘要

急性髓系白血病(AML)是一组预后不良的异质性恶性肿瘤。AML 由在不同分化阶段受阻的未成熟髓系细胞增殖所致。除了患者间的异质性外,AML 的特征还在于患者内部的基因和表型异质性。尽管通过大量测序研究在解读 AML 生物学方面取得了重大进展,但关键问题仍未得到解答。因此,单细胞水平的分析可能会改变我们对这些肿瘤的理解。我们回顾了从细胞处理到生物信息学流程的单细胞测序技术的最新进展。接下来,我们讨论单细胞应用如何有助于理解白血病内部的基因和功能异质性,重点强调与白血病干细胞、克隆进化和可测量残留病(MRD)监测相关的方面。我们最后阐述了单细胞技术如何能够在常规临床实践中实施以改善患者管理。

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