G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia

被引：24

作者：

Beel, Karolien ^{[1
]}

Vandenberghe, Peter ^{[1
,2
]}

机构：

[1] Univ Hosp Leuven, Ctr Human Genet, B-3000 Leuven, Belgium

[2] Univ Hosp Leuven, Dept Haematol, B-3000 Leuven, Belgium

来源：

HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2009年 / 94卷 / 10期

关键词：

G-CSE; X-linked neutropenia; acute myeloid leukemia; SEVERE CONGENITAL NEUTROPENIA; STIMULATING-FACTOR-RECEPTOR; MONOSOMY-7; ELASTASE; PATIENT; RISK; GENE; ELA2; HAX1;

D O I：

10.3324/haematol.2009.009001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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

引用

页码：1449 / 1452

页数：4

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