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Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS

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...

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Autores principales: Vandenberghe, Peter, Beel, Karolien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3206537/
https://www.ncbi.nlm.nih.gov/pubmed/22053285
http://dx.doi.org/10.4081/pr.2011.s2.e9
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author Vandenberghe, Peter
Beel, Karolien
author_facet Vandenberghe, Peter
Beel, Karolien
author_sort Vandenberghe, Peter
collection PubMed
description 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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spelling pubmed-32065372011-11-03 Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS Vandenberghe, Peter Beel, Karolien Pediatr Rep Article 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. PAGEPress Publications 2011-06-22 /pmc/articles/PMC3206537/ /pubmed/22053285 http://dx.doi.org/10.4081/pr.2011.s2.e9 Text en ©Copyright P. Vandenberghe and K. Beel, 2011 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BYNC 3.0). Licensee PAGEPress, Italy
spellingShingle Article
Vandenberghe, Peter
Beel, Karolien
Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title_full Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title_fullStr Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title_full_unstemmed Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title_short Severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of AML/MDS
title_sort severe congenital neutropenia, a genetically heterogeneous disease group with an increased risk of aml/mds
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3206537/
https://www.ncbi.nlm.nih.gov/pubmed/22053285
http://dx.doi.org/10.4081/pr.2011.s2.e9
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