G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia
G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia
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DOI：
10.3324/haematol.2009.009001
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发表时间：
2009-10-01
期刊：
影响因子：
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通讯作者：
Vandenberghe, Peter
中科院分区：
文献类型：
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作者：
Beel, Karolien;Vandenberghe, Peter
x连锁中性粒细胞减少症（YLN）是一种罕见的先天性中性粒细胞减少症（CN），由WAS的遗传功能获得性突变引起。在这里，我们报告了2例L270P x连锁中性粒细胞减少亲缘演变为MDS或AML，获得G-CSFR （CSF3R）突变和7号单体。因此，获得CSF-3R突变和7号单体的白血病转化不仅局限于常染色体遗传的经典先天性中性粒细胞减少症，也可能发生在其他基因型的遗传性中性粒细胞减少症
X-linked neutropenia (YLN) is a rare form of Congenital Neutropenia (CN) caused by inherited gain-of-function mutations of WAS. Here we report 2 cases of the original L270P X-linked neutropenia kindred that evolved to MDS or AML, with acquisition of G-CSFR (CSF3R) mutations and monosomy 7 Thus, leukemic transformation with acquisition of CSF-3R mutations and monosomy 7 is not restricted to classical congenital neutropenia with autosomal inheritance, but can also occur in other genotypes of inherited neutropenia