获得性8号染色体三体的临床特征、致病机制及治疗进展

Advances in Clinical Features, Pathogenesis and Treatment of Acquired Trisomy 8

  • 摘要: 获得性8号染色体三体(trisomy 8,+8)是一种体细胞染色体数目异常。既往对其认识多聚焦于骨髓增生异常综合征等血液系统疾病。近年来研究发现,+8与自身炎症性疾病密切关联。目前对获得性+8相关临床特征的认识已逐步深入,但其致病机制尚未阐明;同时,血液系统疾病与自身炎症性疾病共病现象,使该类疾病的有效管理仍面临严峻挑战。本文从获得性+8相关疾病角度出发,对获得性+8的临床特征、致病机制、治疗进展进行综述,以期为临床诊疗提供参考。

     

    Abstract: Acquired trisomy 8 (+8) is a numerical abnormality of somatic chromosomes. Previous understanding of +8 has largely focused on hematological diseases such as myelodysplastic syndrome. Recent studies have revealed a close association between +8 and autoinflammatory diseases. Although clinical manifestations associated with acquired +8 have been progressively elucidated, its pathogenic mechanisms remain incompletely understood. Meanwhile, the comorbidity of hematological diseases and autoinflammatory diseases poses substantial challenges to the effective management of such conditions. This article reviews advances in clinical features, pathogenesis, and treatment of acquired +8, aiming to provide references for clinical diagnosis and treatment.

     

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