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嗜酸性粒细胞增多症的诊断方法。

The Diagnostic Work-Up of Hypereosinophilia.

出版信息

Pathobiology. 2019;86(1):39-52. doi: 10.1159/000489341. Epub 2018 Jun 29.

Abstract

Hypereosinophilia (HE) is defined as a persistent elevated eosinophil count of ≥1.5 × 109/L. HE can be one of the dominant manifestations of a hematopoietic myeloid neoplasm or secondary/reactive to an underlying medical condition. If a cause of HE and its associated tissue/organ damage is not determined, the condition is considered to be idiopathic hypereosinophilic syndrome (HES). The work-up of HE can be challenging due to a broad range of causes of HE that can be either reactive or neoplastic. In recent years, with the advent of molecular genetic testing and the introduction of targeted therapy in the management of these patients, there is a growing interest in better characterization of these diseases. Using a multimodality approach and following a proper -algorithm, a diagnosis can be made in a large proportion of patients. In idiopathic HES, myeloid neoplasm associated -somatic mutations as evidence of clonality are reported in -20-25% patients; however, the mutation data should be -interpreted cautiously considering the prevalence of clonal hematopoiesis of indeterminate potential (CHIP). Bone marrow morphology has been shown to have important value in the identification of a true myeloid neoplasm in these disorders. A genome-wide study may be needed to understand the "idiopathic" cases that would ultimately lead to better patient care.

摘要

嗜酸性粒细胞增多症(HE)定义为持续升高的嗜酸性粒细胞计数≥1.5×109/L。HE 可能是造血髓系肿瘤的主要表现之一,或继发于潜在疾病状态。如果不能确定 HE 及其相关组织/器官损伤的原因,则该情况被认为是特发性嗜酸性粒细胞综合征(HES)。由于 HE 的原因广泛,可能是反应性的或肿瘤性的,因此对 HE 的检查具有挑战性。近年来,随着分子遗传学检测的出现以及在这些患者的治疗中引入靶向治疗,人们越来越关注对这些疾病的更好描述。使用多模态方法并遵循适当的算法,可以在很大一部分患者中做出诊断。在特发性 HES 中,报告有 20-25%的患者存在与髓系肿瘤相关的体细胞突变作为克隆性的证据;然而,应谨慎解释突变数据,因为不确定潜在克隆性造血(CHIP)的流行率较高。骨髓形态学已被证明在这些疾病中对识别真正的髓系肿瘤具有重要价值。可能需要进行全基因组研究以了解最终将导致更好的患者护理的“特发性”病例。

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