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- Title
Clinical and Therapeutic Intervention of Hypereosinophilia in the Era of Molecular Diagnosis.
- Authors
Nguyen, Lynh; Saha, Aditi; Kuykendall, Andrew; Zhang, Ling
- Abstract
Simple Summary: Hypereosinophilia (HE) is defined as an elevated peripheral eosinophilic count >1.5 × 109/L. It constitutes a broad spectrum of secondary non-hematologic disorders and primary hematologic processes with heterogenous clinical presentations, a number of subclassifications (familial, idiopathic, hypereosinophilic syndrome [HES], myeloid/lymphoid neoplasms, organ restricted, or with unknown significance) and some can have potential lethal outcome from end-organ damage, necessitating timely and accurate diagnosis. Treatment guidelines are established for patients with HE based on its clinical presentation and risk stratification. Observation is recommended for patients who have mild hypereosinophilia and lack organ damage-related signs and symptoms while tyrosine kinase inhibitors are offered to patients harboring PDGFRA, PDGFRB, FGFR1, JAK2 or FLT3 rearrangements. Additionally, corticosteroids are considered as the mainstay of therapy, hydroxyurea, and cytokine blockage (e.g., mepolizumab) have been used for lymphocytic-variant HE, a second line therapy for steroid-resistant cases of HE, and as a novel targeted therapy for HES. 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.
- Subjects
MEDICAL protocols; RISK assessment; DIFFERENTIAL diagnosis; TUMOR markers; EOSINOPHILIA; GENETIC mutation; MOLECULAR diagnosis; SYMPTOMS
- Publication
Cancers, 2024, Vol 16, Issue 7, p1383
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers16071383