期刊
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
卷 94, 期 10, 页码 1449-1452出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.2009.009001
关键词
G-CSE; X-linked neutropenia; acute myeloid leukemia
类别
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
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