严重先天性中性粒细胞减少症，是一组具有遗传异质性且急性髓系白血病/骨髓增生异常综合征风险增加的疾病。
Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS.
作者信息
Vandenberghe Peter, Beel Karolien
机构信息
Center for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven, Belgium;
出版信息
Pediatr Rep. 2011 Jun 22;3 Suppl 2(Suppl 2):e9. doi: 10.4081/pr.2011.s2.e9.
Abstract
OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUTROPENIA (SCN), BY IDENTIFICATION OF SEVERAL CAUSAL GENE MUTATIONS: in ELANE, GFI1, HAX1, WAS and G3PC3. SCN is a preleukemic condition, independent of the genetic subtype. Acquired CSF3R mutations are specific for SCN and are strongly associated with malignant progression. In this review, we describe the known genetic subtypes of SCN, their molecular basis and clinical presentation and summarize the available evidence on CSF3R mutations and monosomy 7 in malignant conversion.
摘要
在过去十年中，通过鉴定几种致病基因突变，即ELANE、GFI1、HAX1、WAS和G3PC3基因的突变，人们对严重先天性中性粒细胞减少症（SCN）的认识取得了巨大进展。SCN是一种白血病前期病症，与遗传亚型无关。获得性CSF3R突变是SCN所特有的，并且与恶性进展密切相关。在本综述中，我们描述了SCN已知的遗传亚型、它们的分子基础和临床表现，并总结了关于CSF3R突变和7号染色体单体在恶性转化方面的现有证据。
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