1,721,413 research outputs found
Cytogenetic subtypes of MDS - Molecular background, prognostic relevance and therapeutic consequences
No full textMyelodysplastic syndromes show a profound heterogeneity regarding not only morphological features and clinical course but also cytogenetic findings. The great prognostic relevance of cytogenetics is generally appreciated, however, it is only known for the most frequent karyotype abnormalities, not for combinations of anomalies and not for more rare changes. To overcome these limitations multicentric cooperations are needed. Nevertheless, recent clinical and basic research allows for a delineation of myelodysplastic syndromes (MDS) subtypes defined by the most frequent chromosomal changes. Recently, the German-Austrian MDS study-group presented a database of cytogenetic findings in 2072 patients with MDS which serves as a basis for the characterization of the cytogenetic subgroups discussed in this article. In this analysis, 52.1% of patients displayed clonal chromosome abnormalities. The most frequent changes were 5q- (29% of abnormal cases), complex changes (27%), -7/7q- (24%), +8 (16%), 20q- (7%), -Y (5%). The advent of new therapeutic options for MDS targeted on distinct entities characterized by a specific chromosome abnormality, as shown paradigmatically for lenalidomide in patients with 5q- syndrome, underlines the important role of cytogenetics for the clinical management of MDS. The following cytogenetic subtypes will be presented in detail: subgroups (favourable, intermediate, unfavourable) defined by the International Prognostic Scoring System (IPSS), 5q-deletions, monosomy 7, and complex abnormalities. The discussion of these cyogenetic entities is focused on prognostic relevance, molecular background and recently established as welt as potential future therapeutic strategies which may have promising potential and are feasible not only in tow-risk MDS but also in high-risk myelodysplasia of elderly patients. (C) 2007 Elsevier Ltd. All rights reserved
Cytogenetic features in myelodysplastic syndromes
No full textMyelodysplastic syndromes (MDS) comprise a group of bone marrow diseases characterized by profound heterogeneity in morphologic presentation, clinical course, and cytogenetic features. Roughly 50% of patients display clonal chromosome abnormalities. In several multicentric studies, the karyotype turned out to be one of the most important prognostic parameters and was incorporated into statistical models aiming for a better prediction of the individual prognosis like the International Prognostic Scoring System. However, due to the profound cytogenetic heterogeneity, the impact of many rare abnormalities as well as combinations of anomalies occurring in a substantial portion of patients with MDS is still unknown and can only be delineated on the basis of large international multicentric cooperations. Recently, the German-Austrian MDS Study Group presented cytogenetic findings in 2,072 patients with MDS, which serve as a basis for the characterization of the cytogenetic subgroups discussed in this article. The availability of new therapeutic options for low- and high-risk MDS targeted against distinct entities characterized by specific chromosome abnormalities, like 5q-deletions, monosomy 7, and complex abnormalities underlines the important role of cytogenetics for the clinical management of MDS. This article thus focuses on the clinical and prognostic relevance, the molecular background, and therapeutic perspectives in these three cytogenetic subgroups
Prognostic relevance of cytogenetic evolution and the influence of the clonal composition in patients with myelodysplastic syndromes
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