X 连锁中性粒细胞减少症向急性髓系白血病或骨髓增生异常转化的 G-CSF 受体（CSF3R）突变。
G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.
机构信息
Centre for Human Genetics, Department of Haematology, Internal Medicine, Universitaire Ziekenhuizen Leuven, University Hospital Leuven, Herestraat 49 3000 Leuven, Belgium.
出版信息
Haematologica. 2009 Oct;94(10):1449-52. doi: 10.3324/haematol.2009.009001.
Abstract
X-linked neutropenia (XLN) 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 CSF3R mutations and monosomy 7 is not restricted to classical congenital neutropenia with autosomal inheritance, but can also occur in other genotypes of inherited neutropenia.
摘要
X 连锁中性粒细胞减少症（XLN）是一种罕见的先天性中性粒细胞减少症（CN）形式，由 WAS 的遗传性功能获得性突变引起。在这里，我们报告了 2 例原始 L270P X 连锁中性粒细胞减少症家系发展为 MDS 或 AML，同时获得了 G-CSFR（CSF3R）突变和单体 7。因此，获得 CSF3R 突变和单体 7 的白血病转化不仅限于常染色体遗传的经典先天性中性粒细胞减少症，也可能发生在其他遗传性中性粒细胞减少症的基因型中。
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