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

Abstract

We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes

Cost of transfusion-dependent myelodysplastic syndrome (MDS) from a German payer’s perspective

“…Interstitial 5q deletions (del(5q)) are the most frequent chromosomal abnormalities in MDS present in 10% to 15% of MDS patients [6][7][8]. The prognosis is favorable with relatively low risk of transformation to AML [9;10] but the dependence on red blood cell (RBC) transfusions often has a negative effect on morbidity and mortality [10].…”

Validation of the new comprehensive cytogenetic scoring system (NCCSS) on 630 consecutive de novo MDS patients from a single institution

“…These disorders show substantial clinical variability, ranging from stability for 10 or more years to death due to cytopenias or evolution into acute myeloid leukaemia (AML) within a few months [2]. To more precisely identify patients with markedly different clinical outcomes, over the past 15 years various prognostic scoring systems have been developed and applied [3][4][5][6][7][8][9][10][11][12][13][14][15][16]. The International Prognostic Scoring System (IPSS) [8] was that most commonly used and has been now revised [17][18][19].…”

“…The International Prognostic Scoring System (IPSS) [8] was that most commonly used and has been now revised [17][18][19]. Thus, cytogenetic abnormalities remain one of the major determinants of MDS pathogenesis, diagnosis, prognosis and guide any potential treatment decisions [12][13][14][15][16][17][18][19][20][21][22][23][24][25], however more sensitive techniques such as array Comparative Genomic Hybridization, Single Nucleotide Polymorphism arrays (SNP-a) and Next-Generation Sequencing are still used in the research setting only [26][27][28][29][30][31]. The IPSS precisely defines the prognostic value of the most frequent chromosomal defects, whereas it does not define rare or combined abnormalities, which are included within the intermediate category [8].…”

“…Thus, these latter defects, which flag the extreme cytogenetic heterogeneity of MDS, should be included within a more precise cytogenetic scoring system [21]. In the last 10 years, large patient series have provided some relevant information on rare isolated abnormalities [9][10][11][12][13], but very few have provided information on combined defects [10,13]. In addition, it has become evident that the clinical outcome of patients with a complex karyotype, previously defined by the presence of 3 defects, worsens with an increase in the number of chromosomal defects [13,20,21].…”

“…In the last 10 years, large patient series have provided some relevant information on rare isolated abnormalities [9][10][11][12][13], but very few have provided information on combined defects [10,13]. In addition, it has become evident that the clinical outcome of patients with a complex karyotype, previously defined by the presence of 3 defects, worsens with an increase in the number of chromosomal defects [13,20,21]. These limitations have spurred the revision of the IPSS cytogenetic categories and have led to the development of the NCCSS [17][18][19].…”