G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia.
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.
Beel
Karolien
K
Centre for Human Genetics, Department of Haematology, Internal Medicine, Universitaire Ziekenhuizen Leuven, University Hospital Leuven, Herestraat 49 3000 Leuven, Belgium.
Vandenberghe
Peter
P
D000328:Adult; D000368:Aged; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D009503:Neutropenia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016188:Receptors, Granulocyte Colony-Stimulating Factor / Q000235:genetics*
D016188:Receptors, Granulocyte Colony-Stimulating Factor