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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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PAGEPress Publications
2011
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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. |
format | Online Article Text |
id | pubmed-3206537 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | PAGEPress Publications |
record_format | MEDLINE/PubMed |
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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