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Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update
Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation be...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer US
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031718/ https://www.ncbi.nlm.nih.gov/pubmed/27510823 http://dx.doi.org/10.1007/s11899-016-0338-x |
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author | Bhatnagar, Neha Nizery, Laure Tunstall, Oliver Vyas, Paresh Roberts, Irene |
author_facet | Bhatnagar, Neha Nizery, Laure Tunstall, Oliver Vyas, Paresh Roberts, Irene |
author_sort | Bhatnagar, Neha |
collection | PubMed |
description | Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially ‘silent’. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here. |
format | Online Article Text |
id | pubmed-5031718 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-50317182016-10-09 Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update Bhatnagar, Neha Nizery, Laure Tunstall, Oliver Vyas, Paresh Roberts, Irene Curr Hematol Malig Rep Myeloproliferative Disorders (C Harrison, Section Editor) Children with constitutional trisomy 21 (Down syndrome (DS)) have a unique predisposition to develop myeloid leukaemia of Down syndrome (ML-DS). This disorder is preceded by a transient neonatal preleukaemic syndrome, transient abnormal myelopoiesis (TAM). TAM and ML-DS are caused by co-operation between trisomy 21, which itself perturbs fetal haematopoiesis and acquired mutations in the key haematopoietic transcription factor gene GATA1. These mutations are found in almost one third of DS neonates and are frequently clinically and haematologcially ‘silent’. While the majority of cases of TAM undergo spontaneous remission, ∼10 % will progress to ML-DS by acquiring transforming mutations in additional oncogenes. Recent advances in the unique biological, cytogenetic and molecular characteristics of TAM and ML-DS are reviewed here. Springer US 2016-08-10 2016 /pmc/articles/PMC5031718/ /pubmed/27510823 http://dx.doi.org/10.1007/s11899-016-0338-x Text en © The Author(s) 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
spellingShingle | Myeloproliferative Disorders (C Harrison, Section Editor) Bhatnagar, Neha Nizery, Laure Tunstall, Oliver Vyas, Paresh Roberts, Irene Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title | Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title_full | Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title_fullStr | Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title_full_unstemmed | Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title_short | Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update |
title_sort | transient abnormal myelopoiesis and aml in down syndrome: an update |
topic | Myeloproliferative Disorders (C Harrison, Section Editor) |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031718/ https://www.ncbi.nlm.nih.gov/pubmed/27510823 http://dx.doi.org/10.1007/s11899-016-0338-x |
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