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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...

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Autores principales: Bhatnagar, Neha, Nizery, Laure, Tunstall, Oliver, Vyas, Paresh, Roberts, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
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.
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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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