Servicio de Hematología, Hospital Clínico Universitario de Valladolid, Valladolid, Spain.
Int J Hematol. 2012 Sep;96(3):320-6. doi: 10.1007/s12185-012-1141-7. Epub 2012 Jul 18.
Idiopathic hypereosinophilic syndrome (HES) is a rare disorder characterized by unexplained, persistent hypereosinophilia associated with multiple organ dysfunctions. The cause of HES is unknown and shows clinical heterogeneity. FIP1L1-PDGFRA fusion is a clonal marker for the diagnosis and treatment of HES. We prospectively studied 78 patients with chronic eosinophilia. In all cases, the most salient clinical and biological characteristics as well as the response to the therapy were analyzed. In addition, we performed conventional cytogenetics and fluorescent in situ hybridization (FISH) with three BACs covering the FIP1-like-1 (FIP1L1)/platelet-derived growth factor receptor-α gene (PDGFRA) fusion. Nineteen of 78 patients (24 %) presented criteria of HES. The majority of patients were male (18) with median age of 49 years (range 19-84 years). FIP1L1-PDGFRA fusion was found in eight patients. Patients with FIP1L1-PDGFRA fusion presented with more bone marrow eosinophils and peripheral blood eosinophilia as well as anemia, leukocytosis and thrombocytopenia. Using of low-dose imatinib mesylate (100 mg/day) a hematological and molecular remission in all patients displaying the FIP1L1-PDGFRA fusion gene was observed. Therefore, imatinib may be effective for use in the treatment of chronic eosinophilic leukemia, and patients should be treated before tissue damage.
特发性嗜酸性粒细胞增多综合征(HES)是一种罕见疾病,其特征为原因不明的持续性嗜酸性粒细胞增多,并伴有多个器官功能障碍。HES 的病因不明,表现出临床异质性。FIP1L1-PDGFRA 融合是诊断和治疗 HES 的克隆标志物。我们前瞻性研究了 78 例慢性嗜酸性粒细胞增多症患者。分析了所有病例的最显著临床和生物学特征以及对治疗的反应。此外,我们进行了常规细胞遗传学和荧光原位杂交(FISH)分析,使用了三个覆盖 FIP1 样-1(FIP1L1)/血小板衍生生长因子受体-α 基因(PDGFRA)融合的 BAC。78 例患者中有 19 例(24%)符合 HES 标准。大多数患者为男性(18 例),中位年龄为 49 岁(范围 19-84 岁)。在 8 例患者中发现了 FIP1L1-PDGFRA 融合。具有 FIP1L1-PDGFRA 融合的患者骨髓嗜酸性粒细胞和外周血嗜酸性粒细胞增多更为明显,同时伴有贫血、白细胞增多和血小板减少。使用低剂量伊马替尼(100mg/天),所有显示 FIP1L1-PDGFRA 融合基因的患者均获得血液学和分子学缓解。因此,伊马替尼可能对慢性嗜酸性粒细胞白血病有效,应在组织损伤前进行治疗。