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Transplantation for Congenital Bone Marrow Failure Syndromes
Congenital bone marrow failure syndromes (BMFSs) are relatively rare disorders characterized by aberrant development in one or more hematopoietic lineages. Genetic alterations have now been identified in most of these disorders although the exact role of the molecular defects has yet to be elucidate...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199936/ https://www.ncbi.nlm.nih.gov/pubmed/22046571 http://dx.doi.org/10.1155/2011/849387 |
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author | Morimoto, Kenji Moore, Theodore B. Schiller, Gary Sakamoto, Kathleen M. |
author_facet | Morimoto, Kenji Moore, Theodore B. Schiller, Gary Sakamoto, Kathleen M. |
author_sort | Morimoto, Kenji |
collection | PubMed |
description | Congenital bone marrow failure syndromes (BMFSs) are relatively rare disorders characterized by aberrant development in one or more hematopoietic lineages. Genetic alterations have now been identified in most of these disorders although the exact role of the molecular defects has yet to be elucidated. Most of these diseases are successfully managed with supportive care, however, treatment refractoriness and disease progression—often involving malignant transformation—may necessitate curative treatment with hematopoietic stem cell transplantation. Due to the underlying molecular defects, the outcome of transplantation for BMFS may be dramatically different than those associated with transplantation for more common diseases, including leukemia. Given recent improvements in survival and molecular diagnosis of bone marrow failure syndrome patients presenting at adult ages without physical stigmata, it is important for both pediatric and adult hematologists to be aware of the possible diagnosis of BMF syndromes and the unique approaches required in treating such patients. |
format | Online Article Text |
id | pubmed-3199936 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-31999362011-11-01 Transplantation for Congenital Bone Marrow Failure Syndromes Morimoto, Kenji Moore, Theodore B. Schiller, Gary Sakamoto, Kathleen M. Bone Marrow Res Review Article Congenital bone marrow failure syndromes (BMFSs) are relatively rare disorders characterized by aberrant development in one or more hematopoietic lineages. Genetic alterations have now been identified in most of these disorders although the exact role of the molecular defects has yet to be elucidated. Most of these diseases are successfully managed with supportive care, however, treatment refractoriness and disease progression—often involving malignant transformation—may necessitate curative treatment with hematopoietic stem cell transplantation. Due to the underlying molecular defects, the outcome of transplantation for BMFS may be dramatically different than those associated with transplantation for more common diseases, including leukemia. Given recent improvements in survival and molecular diagnosis of bone marrow failure syndrome patients presenting at adult ages without physical stigmata, it is important for both pediatric and adult hematologists to be aware of the possible diagnosis of BMF syndromes and the unique approaches required in treating such patients. Hindawi Publishing Corporation 2011 2010-11-29 /pmc/articles/PMC3199936/ /pubmed/22046571 http://dx.doi.org/10.1155/2011/849387 Text en Copyright © 2011 Kenji Morimoto et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Morimoto, Kenji Moore, Theodore B. Schiller, Gary Sakamoto, Kathleen M. Transplantation for Congenital Bone Marrow Failure Syndromes |
title | Transplantation for Congenital Bone Marrow Failure Syndromes |
title_full | Transplantation for Congenital Bone Marrow Failure Syndromes |
title_fullStr | Transplantation for Congenital Bone Marrow Failure Syndromes |
title_full_unstemmed | Transplantation for Congenital Bone Marrow Failure Syndromes |
title_short | Transplantation for Congenital Bone Marrow Failure Syndromes |
title_sort | transplantation for congenital bone marrow failure syndromes |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199936/ https://www.ncbi.nlm.nih.gov/pubmed/22046571 http://dx.doi.org/10.1155/2011/849387 |
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