@article{Karolien Beel_Peter Vandenberghe_2009, place={Pavia, Italy}, title={G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia}, volume={94}, url={https://haematologica.org/article/view/5383}, DOI={10.3324/haematol.2009.009001}, abstractNote={X-linked neutropenia (XLN) is a rare form of Congenital Neutropenia (CN) caused by inherited gain-of-function mutations of <em>WAS</em>. Here we report 2 cases of the original L270P X-linked neutropenia kindred that evolved to MDS or AML, with acquisition of G-CSFR (<em>CSF3R</em>) mutations and monosomy 7. Thus, leukemic transformation with acquisition of <em>CSF3R</em&gt; mutations and monosomy 7 is not restricted to classical congenital neutropenia with autosomal inheritance, but can also occur in other genotypes of inherited neutropenia.}, number={10}, journal={Haematologica}, author={Karolien Beel and Peter Vandenberghe}, year={2009}, month={Sep.}, pages={1449-1452} }