Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis
Demonstration of an aberrant mast-cell population with clonal markers in a subset of patients with "idiopathic" anaphylaxis
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DOI：
10.1182/blood-2006-06-028100
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发表时间：
2007-10-01
期刊：
影响因子：
20.3
通讯作者：
Metcalfe, Dean D.
中科院分区：
文献类型：
--
作者：
Akin, Cem;Scott, Linda M.;Metcalfe, Dean D.
特发性过敏反应仍然是一个复杂的疾病，现有的预防性治疗是不够的。在这项前瞻性研究中，我们试图确定特发性过敏反应患者是否可能有肥大细胞增多症相关的肥大细胞克隆性疾病的证据，以及可能考虑采用新的靶向治疗。我们报告了12例“特发性”过敏反应患者，他们既没有表现出色素性荨麻疹，也没有表现出系统性肥大细胞增多症中观察到的多灶性肥大细胞聚集的骨髓活检特征。在这12例患者中，5例有1个或多个肥大细胞增多症次要标准的证据。在进行分析的3名患者中，3名患者的CD 25（+）骨髓细胞C-KIT突变分析为816 D> V激活突变阳性。这些结果表明，在诊断为“特发性”过敏反应的患者亚组中存在携带克隆标记物的异常肥大细胞群，这些患者可能对靶向突变C-KIT的抑制剂有反应。该校内临床试验于2003年和2004年进行，并在http：//www.example.com注册，研究编号为03-1-0010。clinicalcenter.nih.gov
Idiopathic anaphylaxis remains a perplexing disorder in which existing prophylactic therapy is inadequate. In this prospective study, we sought to determine whether patients with idiopathic anaphylaxis might have evidence for a clonal disorder of mast cells related to mastocytosis and for which novel targeted therapies might be considered. We report 12 patients with "Idiopathic" anaphylaxis who did not exhibit either urticaria pigmentosa or the characteristic bone marrow biopsy finding of multifocal mast-cell aggregates observed in systemic mastocytosis. Of these 12 patients, 5 had evidence of 1 or more minor criteria for mastocytosis. C-KITmutational analysis was positive for the 816D > V activating mutation in 3 of 3 patients in CD25(+) bone marrow cells where the analysis was performed. These results demonstrate the presence of an aberrant mast-cell population carrying clonal markers in a subset of patients diagnosed with "idiopathic" anaphylaxis, who may respond to inhibitors targeting mutated C-KIT. This intramural clinical trial was conducted in 2003 and 2004 and was registered at http:// clinicalcenter.nih.gov with a study number 03-1-0010.