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

[monosomy 21]

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 /+1 q , t (1 q ), t (7 q ), del (9 q ), del (12 p ), chromosome 15 anomalies , t (17 q ), monosomy 21 , trisomy 21 , and -X ), intermediate (del (11 q ), chromosome 19 anomalies ), or poor (t (5 q )) 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 .

Diseases
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Diseases presenting "specific karyotypic combinations" symptom

monosomy 21

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