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.
Centre for Human Genetics, Department of Haematology, Internal Medicine, Universitaire Ziekenhuizen Leuven, University Hospital Leuven, Herestraat 49 3000 Leuven, Belgium.
Karolien
K
Beel
Peter
P
Vandenberghe
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