Title: Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
Authors: Vandenberghe, Peter ×
Beel, Karolien #
Issue Date: Jun-2011
Series Title: Pediatric reports vol:3 issue:Suppl 2 pages:e9
Article number: 10.4081/pr.2011.s2.e9.
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.
ISSN: 2036-7503
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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