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Blood, 15 December 2007, Vol. 110, No. 13, pp. 4385-4395.
Prepublished online as a Blood First Edition Paper on August 28, 2007; DOI 10.1182/blood-2007-03-082404.


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NEOPLASIA

New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients

Detlef Haase1, Ulrich Germing2, Julie Schanz1, Michael Pfeilstöcker3, Thomas Nösslinger3, Barbara Hildebrandt4, Andrea Kundgen2, Michael Lübbert5, Regina Kunzmann5, Aristoteles A. N. Giagounidis6, Carlo Aul6, Lorenz Trümper1, Otto Krieger7, Reinhard Stauder8, Thomas H. Müller9, Friedrich Wimazal10, Peter Valent10, Christa Fonatsch11, and Christian Steidl1

1 Department of Hematology and Oncology, University of Göttingen, Göttingen, Germany; 2 Department of Hematology, Oncology, and Clinical Immunology, University of Düsseldorf, Düsseldorf, Germany; 3 Third Medical Department for Hematology and Oncology and L. Boltzmann Institute for Leukemia Research and Hematology, Hanusch Hospital, Vienna, Austria; 4 Department of Human Genetics, University of Düsseldorf, Düsseldorf, Germany; 5 Department of Hematology/Oncology, University of Freiburg Medical Center, Freiburg, Germany; 6 Department of Hematology, Oncology, and Clinical Immunology, St Johannes Hospital, Duisburg, Germany; 7 Department of Internal Medicine, Elisabethinen Hospital, Linz, Austria; 8 Department of Internal Medicine, Innsbruck Medical University, Innsbruck, Austria; 9 Department of Biostatistics, University of München, München, Germany; 10 Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria; and 11 Department of Medical Genetics, Medical University of Vienna, Vienna, Austria

We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes (MDSs) at 4 institutions in Austria and 4 in Germany. Cytogenetic analyses were successfully performed in 2072 (97.6%) patients, revealing clonal abnormalities in 1084 (52.3%) patients. Numeric and structural chromosomal abnormalities were documented for each patient and subdivided further according to the number of additional abnormalities. Thus, 684 different cytogenetic categories were identified. The impact of the karyotype on the natural course of the disease was studied in 1286 patients treated with supportive care only. Median survival was 53.4 months for patients with normal karyotypes (n = 612) and 8.7 months for those with complex anomalies (n = 166). A total of 13 rare abnormalities were identified with good (+1/+1q, t(1q), t(7q), del(9q), del(12p), chromosome 15 anomalies, t(17q), monosomy 21, trisomy 21, and –X), intermediate (del(11q), chromosome 19 anomalies), or poor (t(5q)) prognostic impact, respectively. The prognostic relevance of additional abnormalities varied considerably depending on the chromosomes affected. For all World Health Organization (WHO) and French-American-British (FAB) classification system subtypes, the karyotype provided additional prognostic information. Our analyses offer new insights into the prognostic significance of rare chromosomal abnormalities and specific karyotypic combinations in MDS.


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