Haematologica, Vol 94, Issue 10, 1449-1452 doi:10.3324/haematol.2009.009001
Copyright © 2009 by Ferrata Storti Foundation
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Bone Marrow Failure

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

Karolien Beel1, Peter Vandenberghe1,2

1 Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven
2 Department of Haematology, Internal Medicine, Universitaire Ziekenhuizen Leuven, Leuven, Belgium

Correspondence: Peter Vandenberghe, Centre for Human Genetics, University Hospital Leuven, Herestraat 49 3000 Leuven, Belgium. E-mail:Peter.vandenberghe{at}med.kuleuven.be

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.

Key words: G-CSF, X-linked neutropenia, acute myeloid leukemia.


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