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Assessing clonal haematopoiesis: clinical burdens and benefits of diagnosing myelodysplastic syndrome precursor states.
The Lancet Haematology ( IF 15.4 ) Pub Date : 2019-12-03 , DOI: 10.1016/s2352-3026(19)30211-x
Lukasz P Gondek 1 , Amy E DeZern 1
Affiliation  

Diagnosing, surveilling, and understanding the biological consequences of clonal haematopoiesis poses a clinical challenge for both patients and clinicians. The relationship between peripheral blood cytopenias and myeloid neoplasms-such as myelodysplastic syndrome-is an area of active research, and understanding of clonal haematopoiesis has developed markedly on the basis of findings concerning somatic mutations in genes known to be associated with myelodysplastic syndrome. These findings have raised the conundrum of how to appropriately define and follow myelodysplastic syndrome precursor states, such as clonal haematopoiesis of indeterminate potential (CHIP) and clonal cytopenias of undetermined significance (CCUS). Identifying these conditions could allow earlier diagnosis of myelodysplastic syndrome, modify surveillance for myelodysplastic syndrome, and possibly guide therapies, but this information also comes at a cost to patients that might or might not be justified by our present understanding of clonal haematopoiesis. When faced with a diagnosis of clonal haematopoiesis, some patients and providers might be content to let the events unfold naturally, whereas others may insist on intense follow-up and early interventions. This Viewpoint assesses recent developments in clonal haematopoiesis and the related implications for affected patients and their providers.

中文翻译:

评估克隆性造血功能:诊断骨髓增生异常综合症前体状态的临床负担和益处。

诊断,监测和了解克隆性造血功能的生物学后果对患者和临床医生都构成了临床挑战。外周血细胞减少症和骨髓肿瘤(如骨髓增生异常综合症)之间的关系是一个活跃的研究领域,并且基于关于与骨髓增生异常综合症相关的基因中的体细胞突变的发现,对克隆性造血功能的认识有了显着发展。这些发现提出了如何正确定义和遵循骨髓增生异常综合症前体状态(例如不确定电位的克隆性造血(CHIP)和意义不明的克隆性血细胞减少症(CCUS))的难题。识别出这些情况可以更早地诊断出骨髓增生异常综合症,修改骨髓增生异常综合症的监测方法,并可能指导治疗,但对于我们目前对克隆性造血功能的了解,可能会或可能不会为患者提供此信息。当面对克隆性造血的诊断时,一些患者和提供者可能会满足于让事件自然发生,而其他人和患者可能会坚持进行严格的随访和早期干预。该观点评估了克隆性造血功能的最新发展及其对受影响患者及其提供者的影响。一些患者和提供者可能会满足于让事件自然发展,而另一些患者和提供者可能会坚持要求严格的随访和早期干预。该观点评估了克隆性造血功能的最新发展及其对受影响患者及其提供者的影响。一些患者和提供者可能会满足于让事件自然发展,而另一些患者和提供者可能会坚持要求严格的随访和早期干预。该观点评估了克隆性造血功能的最新发展及其对受影响患者及其提供者的影响。
更新日期:2019-12-04
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