文章：

分子诊断时代高嗜酸性粒细胞增多症的临床与治疗干预

Clinical and Therapeutic Intervention of Hypereosinophilia in the Era of Molecular Diagnosis

原文发布日期：31 March 2024

DOI: 10.3390/cancers16071383

类型: Article

开放获取: 是

英文摘要：

Hypereosinophilia (HE) presents with an elevated peripheral eosinophilic count of >1.5 × 109/L and is composed of a broad spectrum of secondary non-hematologic disorders and a minority of primary hematologic processes with heterogenous clinical presentations, ranging from mild symptoms to potentially lethal outcome secondary to end-organ damage. Following the introduction of advanced molecular diagnostics (genomic studies, RNA sequencing, and targeted gene mutation profile, etc.) in the last 1–2 decades, there have been deep insights into the etiology and molecular mechanisms involved in the development of HE. The classification of HE has been updated and refined following to the discovery of clinically novel markers and targets in the 2022 WHO classification and ICOG-EO 2021 Working Conference on Eosinophil Disorder and Syndromes. However, the diagnosis and management of HE is challenging given its heterogeneity and variable clinical outcome. It is critical to have a diagnostic algorithm for accurate subclassification of HE and hypereosinophilic syndrome (HES) (e.g., reactive, familial, idiopathic, myeloid/lymphoid neoplasm, organ restricted, or with unknown significance) and to follow established treatment guidelines for patients based on its clinical findings and risk stratification.

摘要翻译： 

嗜酸性粒细胞增多症（HE）表现为外周血嗜酸性粒细胞计数升高（>1.5×10⁹/L），其病因涵盖广泛的继发性非血液系统疾病及少数原发性血液系统疾病，临床表现异质性显著，可从轻微症状至因终末器官损伤导致的潜在致命性结局。近10-20年来，随着先进分子诊断技术（基因组研究、RNA测序及靶向基因突变谱分析等）的应用，学界对HE的病因学及分子机制有了更深入的认识。基于2022年WHO分类及2021年国际嗜酸性粒细胞疾病与综合征工作组会议（ICOG-EO）提出的新型临床标志物与靶点，HE的分类体系已得到更新和完善。然而，由于该疾病的高度异质性和多变的临床结局，其诊断与管理仍面临挑战。建立精确的HE及嗜酸性粒细胞增多综合征（HES）诊断流程（如反应性、家族性、特发性、髓系/淋巴系肿瘤、器官局限性或意义未明型等亚型分类），并依据临床特征与风险分层遵循既定治疗指南，对患者管理至关重要。

原文链接：

Clinical and Therapeutic Intervention of Hypereosinophilia in the Era of Molecular Diagnosis