Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes
The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Università Cattolica del Sacro Cuore
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418404/ https://www.ncbi.nlm.nih.gov/pubmed/25960862 http://dx.doi.org/10.4084/MJHID.2015.034 |
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author | Bacher, Ulrike Schanz, Julie Braulke, Friederike Haase, Detlef |
author_facet | Bacher, Ulrike Schanz, Julie Braulke, Friederike Haase, Detlef |
author_sort | Bacher, Ulrike |
collection | PubMed |
description | The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or −Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process. |
format | Online Article Text |
id | pubmed-4418404 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Università Cattolica del Sacro Cuore |
record_format | MEDLINE/PubMed |
spelling | pubmed-44184042015-05-08 Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes Bacher, Ulrike Schanz, Julie Braulke, Friederike Haase, Detlef Mediterr J Hematol Infect Dis Review Article The karyotype represents one of the main cornerstones for the International Prognostic Scoring System (IPSS) and the revised IPSS-R (IPSS-R) that are most widely used for prognostication in patients with myelodysplastic syndromes (MDS). The most frequent cytogenetic abnormalities in MDS, i.e. del(5q), -7/del(7q), +8, complex karyotypes, or −Y have been extensively explored for their prognostic impact. The IPSS-R also considers some less frequent abnormalities such as del(11q), isochromosome 17, +19, or 3q abnormalities. However, more than 600 different cytogenetic categories had been identified in a previous MDS study. This review aims to focus interest on selected rare cytogenetic abnormalities in patients with MDS. Examples are numerical gains of the chromosomes 11 (indicating rapid progression), of chromosome 14 or 14q (prognostically intermediate to favorable), -X (in females, with an intermediate prognosis), or numerical abnormalities of chromosome 21. Structural abnormalities are also considered, e.g. del(13q) that is associated with bone marrow failure syndromes and favorable response to immunosuppressive therapy. These and other rare cytogenetic abnormalities should be integrated into existing prognostication systems such as the IPSS-R. However, due to the very low number of cases, this is clearly dependent on international collaboration. Hopefully, this article will help to inaugurate this process. Università Cattolica del Sacro Cuore 2015-05-01 /pmc/articles/PMC4418404/ /pubmed/25960862 http://dx.doi.org/10.4084/MJHID.2015.034 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Bacher, Ulrike Schanz, Julie Braulke, Friederike Haase, Detlef Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title | Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title_full | Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title_fullStr | Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title_full_unstemmed | Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title_short | Rare Cytogenetic Abnormalities in Myelodysplastic Syndromes |
title_sort | rare cytogenetic abnormalities in myelodysplastic syndromes |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4418404/ https://www.ncbi.nlm.nih.gov/pubmed/25960862 http://dx.doi.org/10.4084/MJHID.2015.034 |
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