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...

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Autores principales: Bacher, Ulrike, Schanz, Julie, Braulke, Friederike, Haase, Detlef
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Università Cattolica del Sacro Cuore 2015
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.
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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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