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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PAGEPress Publications
2015-04-01
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| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
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| Online Access: | http://www.mjhid.org/index.php/mjhid/article/view/2262 |
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| author | Julie Schanz Friederike Braulke Detlef Haase |
| author_facet | Julie Schanz Friederike Braulke Detlef Haase |
| author_sort | Julie Schanz |
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| 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 considers also 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 | Article |
| id | doaj-art-92ff6fe0e6f34b76ba35909bb0107b78 |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2015-04-01 |
| publisher | PAGEPress Publications |
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| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-92ff6fe0e6f34b76ba35909bb0107b782025-01-02T06:40:03ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062015-04-0171e2015034e201503410.4084/mjhid.2015.0341560RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMESJulie SchanzFriederike BraulkeDetlef HaaseThe 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 considers also 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.http://www.mjhid.org/index.php/mjhid/article/view/2262Myelodysplastic Syndrome, Cytogenetics, Rare Disorders |
| spellingShingle | Julie Schanz Friederike Braulke Detlef Haase RARE CYTOGENETIC ABNORMALITIES IN MYELODYSPLASTIC SYNDROMES Mediterranean Journal of Hematology and Infectious Diseases Myelodysplastic Syndrome, Cytogenetics, Rare Disorders |
| 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 | Myelodysplastic Syndrome, Cytogenetics, Rare Disorders |
| url | http://www.mjhid.org/index.php/mjhid/article/view/2262 |
| work_keys_str_mv | AT julieschanz rarecytogeneticabnormalitiesinmyelodysplasticsyndromes AT friederikebraulke rarecytogeneticabnormalitiesinmyelodysplasticsyndromes AT detlefhaase rarecytogeneticabnormalitiesinmyelodysplasticsyndromes |