成人端粒生物学疾病的诊断和治疗。

IF 7.9 1区医学 Q1 HEMATOLOGY

Haematologica Pub Date : 2025-10-02 DOI:10.3324/haematol.2025.287739

Madeline Franke,Alejandro Ferrer,Mrinal M Patnaik

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引用次数: 0

摘要

端粒生物学障碍（tbd）包括一组异质性遗传疾病，其特征是端粒维持受损，导致端粒长度异常和/或端粒功能障碍。tbd的临床范围很广，包括骨髓衰竭、肺纤维化、肝脏疾病和恶性肿瘤易感增加，使及时诊断和治疗变得复杂。在这篇综述中，我们探讨了不断发展的临床前景和tbd的诊断策略，同时强调了不同的表型表现。我们进一步研究了端粒功能障碍在驱动癌症发展和克隆造血中的作用。最后，我们讨论了目前和新兴的治疗方法，强调个性化和多学科管理的必要性，以优化患者的结果。

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Diagnosis and management of adult telomere biology disorders.

Telomere biology disorders (TBDs) comprise a heterogenous group of inherited conditions characterized by impaired telomere maintenance, resulting in abnormal telomere lengths and/or telomere dysfunction. The clinical spectrum of TBDs is broad, spanning bone marrow failure, pulmonary fibrosis, liver disease, and an increased predisposition to malignancy, complicating timely diagnosis and management. In this review, we explore the evolving clinical landscape and diagnostic strategies for TBDs, while highlighting the diverse phenotypic presentations. We further examine the role of telomere dysfunction in driving cancer development and clonal hematopoiesis. Finally, we discuss current and emerging therapeutic approaches for TBDs, emphasizing the need for individualized and multidisciplinary management to optimize patient outcomes.

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来源期刊

Haematologica 医学-血液学

CiteScore

14.10

自引率

2.00%

发文量

349

审稿时长

3-6 weeks

期刊介绍： Haematologica is a journal that publishes articles within the broad field of hematology. It reports on novel findings in basic, clinical, and translational research. Scope: The scope of the journal includes reporting novel research results that: Have a significant impact on understanding normal hematology or the development of hematological diseases. Are likely to bring important changes to the diagnosis or treatment of hematological diseases.