G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia |
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Authors: | Karolien Beel and Peter Vandenberghe |
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Institution: | 1 Centre for Human Genetics, Universitaire Ziekenhuizen Leuven, Leuven;2 Department of Haematology, Internal Medicine, Universitaire Ziekenhuizen Leuven, Leuven, Belgium |
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Abstract: | 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. |
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Keywords: | G-CSF X-linked neutropenia acute myeloid leukemia |
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