Kit and c-kit mutations in mastocytosis:: A short overview with special reference to novel molecular and diagnostic concepts
Kit and c-kit mutations in mastocytosis:: A short overview with special reference to novel molecular and diagnostic concepts
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DOI：
10.1159/000048179
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发表时间：
2002-02-01
影响因子：
2.8
通讯作者：
Arock, M
中科院分区：
文献类型：
--
作者：
Féger, F;Dumas, AR;Arock, M
肥大细胞增多症是一组异质性造血疾病，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。临床症状的发生是由于化学介质的释放和/或 MC 在各种组织中的病理浸润。尽管导致肥大细胞增多症的最初事件尚未阐明，但在大量患者中已描述了编码干细胞因子 (SCF) 受体的 c-kitgene 的获得性改变，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（不依赖于 SCF）增殖有关。可以设想新的治疗策略来抑制这些 c-kit 突变形式的失调的激酶活性。版权所有 (C) 2002 S. KargerAG，巴塞尔。
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-kitgene 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. Copyright (C) 2002 S. KargerAG, Basel.