Féger Frédéric, Ribadeau Dumas Antoine, Leriche Laurence, Valent Peter, Arock Michel
Cellular and Molecular Hematology Unit, Faculty of Pharmacy, Paris, France.
Int Arch Allergy Immunol. 2002 Feb;127(2):110-4. doi: 10.1159/000048179.
Mastocytosis is a heterogeneous group of hematopoietic disorders characterized by abnormal growth and accumulation of mast cells (MC) in one or more organs. Clinical symptoms occur as a result of the release of chemical mediators and/or of pathologic infiltration of MC in various tissues. Although the initial events leading to mastocytosis have not yet been unraveled, acquired alterations in the c-kit gene coding for the receptor of stem cell factor (SCF), a major cytokine involved in MC growth, have been described in a significant number of patients. Of particular interest are point mutations resulting in a constitutively activated SCF receptor. Such mutations are probably involved in the abnormal (SCF-independent) proliferation of MC in these patients. New therapeutic strategies may be envisaged to inhibit the deregulated kinase activity of these mutant forms of c-kit.
肥大细胞增多症是一组异质性造血系统疾病，其特征是肥大细胞（MC）在一个或多个器官中异常生长和积聚。临床症状是由于化学介质的释放和/或MC在各种组织中的病理性浸润所致。尽管导致肥大细胞增多症的初始事件尚未阐明，但在大量患者中已发现编码干细胞因子（SCF）受体的c-kit基因发生了获得性改变，SCF是参与MC生长的主要细胞因子。特别令人感兴趣的是导致组成型激活的SCF受体的点突变。这些突变可能与这些患者中MC的异常（不依赖SCF）增殖有关。可能设想新的治疗策略来抑制这些c-kit突变形式的失调激酶活性。
