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Case Reports
. 2009 Oct;94(10):1449-52.
doi: 10.3324/haematol.2009.009001.

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

Karolien Beel  1 , Peter Vandenberghe
Affiliations
Case Reports

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

Karolien Beel et al. Haematologica. 2009 Oct.

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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Figures

Figure 1.
Figure 1.
Updated L270P Pedigree. Filled squares: males with documented neutropenia; circles with a black dot: carrier females; open symbols: unaffected individuals; patients with MDS/AML are indicated in red squares.
Figure 2.
Figure 2.
Sequencing profile of patients II.3 and III.6 at different time points.
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