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17 June 2011

4 Pages

Severe Congenital Neutropenia, a Genetically Heterogeneous Disease Group With an Increased Risk of AML/MDS

and
1
Center for Human Genetics,Universitaire Ziekenhuizen Leuven,Leuven, Belgium
2
Department of Haematology, Internal Medicine,Universitaire Ziekenhuizen Leuven,Leuven, Belgium
*
Author to whom correspondence should be addressed.
Pediatr. Rep.2011, 3(s2), e9;https://doi.org/10.4081/pr.2011.s2.e9
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Abstract

Over the past decade, enormous progress has been made in the understanding of severe congenital neutropenia (SCN), by identification of several causal gene mutations: in ELANE, GFI1, HAX1, WAS and G3PC3. SCN is a preleukemic condition, independent of the genetic subtype. Acquired CSF3R mutations are specific for SCN and are strongly associated with malignant progression. In this review, we describe the known genetic subtypes of SCN, their molecular basis and clinical presentation and summarize the available evidence on CSF3R mutations and monosomy 7 in malignant conversion.

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