唐氏综合征相关白血病：现有证据与挑战。

IF 3.4 3区医学 Q2 HEMATOLOGY

Therapeutic Advances in Hematology Pub Date : 2024-07-23 eCollection Date: 2024-01-01 DOI:10.1177/20406207241257901

Nicola R Mason, Hilary Cahill, Yonatan Diamond, Karen McCleary, Rishi S Kotecha, Glenn M Marshall, Marion K Mateos

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引用次数: 0

摘要

患有唐氏综合征（DS）的儿童罹患血液恶性肿瘤的风险增加，尤其是急性巨核细胞白血病和急性淋巴细胞白血病。21 三体综合征导致的异常造血所形成的微环境，又因其他基因和表观遗传学变化而变得更加复杂，这些变化都可能导致唐氏综合征患者白血病的发生。GATA结合蛋白1（GATA1）体细胞突变与一过性骨髓造血异常的发生和发展为DS髓性白血病（ML-DS）有关，并为DS白血病的多步骤发生过程提供了一个模型。本综述总结了导致 DS 患者白血病发生的主要遗传因素、ML-DS 和 DS 相关急性淋巴细胞白血病的生物学和治疗、DS-白血病治疗的后期效应以及未来靶向治疗的重点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Down syndrome-associated leukaemias: current evidence and challenges.

Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS. GATA-binding protein 1 (GATA1) somatic mutations are implicated in the development of transient abnormal myelopoiesis and the progression to myeloid leukaemia of DS (ML-DS) and provide a model of the multi-step process of leukaemogenesis in DS. This review summarises key genetic drivers for the development of leukaemia in patients with DS, the biology and treatment of ML-DS and DS-associated acute lymphoblastic leukaemia, late effects of treatments for DS-leukaemias and the focus for future targeted therapy.

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来源期刊

Therapeutic Advances in Hematology HEMATOLOGY-

CiteScore

4.30

自引率

0.00%

发文量

审稿时长

7 weeks

期刊介绍： Therapeutic Advances in Hematology delivers the highest quality peer-reviewed articles, reviews, and scholarly comment on pioneering efforts and innovative studies across all areas of hematology. The journal has a strong clinical and pharmacological focus and is aimed at clinicians and researchers in hematology, providing a forum in print and online for publishing the highest quality articles in this area.