Pardanani Animesh, Verstovsek Srdan
Mayo Clinic, Rochester, MN 55905, USA.
Cancer J. 2007 Nov-Dec;13(6):384-91. doi: 10.1097/PPO.0b013e31815a9618.
Hypereosinophilic syndrome (HES), chronic eosinophilic leukemia (CEL), and mast cell disease (MCD) are all considered myeloproliferative neoplasms, and diagnosis in each instance requires bone marrow examination with cytogenetic and molecular studies. HES should be distinguished from both molecularly defined and otherwise uncategorized CEL. The genes that are mutated in molecularly defined CEL include those that encode for platelet-derived growth factor receptors A and B and for fibroblast growth factor receptor 1. Diagnosis of MCD is facilitated by tryptase immunostaining and immunophenotyping to detect abnormal CD25-positive mast cells. Mutation screening for KITD816V is also advised but is not essential for the diagnosis of MCD. Asymptomatic patients with HES and no evidence of organ damage do not necessarily require immediate therapy. The same is true for patients with indolent MCD. At present, effective cytoreductive drugs for HES include corticosteroids, interferon-alpha (IFN-alpha), and hydroxyurea, imatinib for platelet-derived growth factor receptor A or B-rearranged CEL imatinib, and for MCD IFN-alpha and cladribine. In addition, a number of new drugs are currently being tested for their safety and efficacy in all 3 disorders.
高嗜酸性粒细胞综合征（HES）、慢性嗜酸性粒细胞白血病（CEL）和肥大细胞疾病（MCD）均被视为骨髓增殖性肿瘤，每种情况的诊断都需要进行骨髓检查以及细胞遗传学和分子研究。HES应与分子定义的和其他未分类的CEL相区分。分子定义的CEL中发生突变的基因包括编码血小板衍生生长因子受体A和B以及成纤维细胞生长因子受体1的基因。通过类胰蛋白酶免疫染色和免疫表型分析以检测异常的CD25阳性肥大细胞有助于MCD的诊断。也建议进行KITD816V突变筛查，但这对MCD的诊断并非必不可少。无症状的HES患者且无器官损伤证据的不一定需要立即治疗。惰性MCD患者也是如此。目前，用于HES的有效细胞减灭药物包括皮质类固醇、α干扰素（IFN-α）和羟基脲，用于血小板衍生生长因子受体A或B重排的CEL的伊马替尼，以及用于MCD的IFN-α和克拉屈滨。此外，目前正在对多种新药进行这三种疾病的安全性和有效性测试。
