Mastocytosis- a mutated KIT receptor induced myeloproliferative disorder

被引：52

作者：

Chatterjee, Anindya ^{[1
]}

Ghosh, Joydeep ^{[1
,2
]}

Kapur, Reuben ^{[1
,2
,3
,4
]}

机构：

[1] Indiana Univ Sch Med, Dept Pediat, Herman B Wells Ctr Pediat Res, Indianapolis, IN 46202 USA

[2] Indiana Univ Sch Med, Dept Microbiol & Immunol, Indianapolis, IN 46202 USA

[3] Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA

[4] Indiana Univ Sch Med, Dept Mol Biol & Biochem, Indianapolis, IN 46202 USA

来源：

ONCOTARGET | 2015年 / 6卷 / 21期

基金：

美国国家卫生研究院;

关键词：

mastocytosis; KIT mutations; myeloproliferative disorder; alternative targets in mastocytosis; signaling pathways in mastocytosis; MAST-CELL SARCOMA; C-KIT; SYSTEMIC MASTOCYTOSIS; PEDIATRIC MASTOCYTOSIS; CUTANEOUS MASTOCYTOSIS; CONSENSUS STATEMENTS; ACTIVATING MUTATIONS; KINASE INHIBITORS; DOMAIN MUTATIONS; CATALYTIC DOMAIN;

D O I：

10.18632/oncotarget.4213

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Although more than 90% systemic mastocytosis (SM) patients express gain of function mutations in the KIT receptor, recent next generation sequencing has revealed the presence of several additional genetic and epigenetic mutations in a subset of these patients, which confer poor prognosis and inferior overall survival. A clear understanding of how genetic and epigenetic mutations cooperate in regulating the tremendous heterogeneity observed in these patients will be essential for designing effective treatment strategies for this complex disease. In this review, we describe the clinical heterogeneity observed in patients with mastocytosis, the nature of relatively novel mutations identified in these patients, therapeutic strategies to target molecules downstream from activating KIT receptor and finally we speculate on potential novel strategies to interfere with the function of not only the oncogenic KIT receptor but also epigenetic mutations seen in these patients.

引用

页码：18250 / 18264

页数：15

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