Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Abstract

leukemia (AML) [1]. While cytopenias and morphologic dysplasias are not pathognomonic to MDS, other causes of dyspoiesis are needed to be essentially excluded (including nutritional etiologies, toxin or drug/radiation exposures, vitamin deficiencies, infectious agents, alcohol abuse, autoimmune disorders, chronic kidney and liver diseases, and endocrinopathies) before diagnosing MDS [2].Results from cytogenetic studies by conventional karyotyping and fluorescence in-situ hybridization (FISH) assays serve as important parameters included in the revised international prognostic scoring system (IPSS-R) score in MDS, which is proven to be beneficial for determination of prognostic status of untreated patients with disease [3]. The lower risk MDS patients are defined as those having a risk of very low, low, or intermediate disease according to the IPSS-R with a score of ≤ 3.5 points [4]. The comprehensive cytogenetic scoring system (CCSS) was adapted by the WHO which identifies specific prognostic stratification of MDS based on the cytogenetics clone. Overall survival was reported to be significantly different independently on the cytogenetics status [5].It was reported that chromosomal defects are observed in approximately 50% of primary and 80% of therapy-related MDS (t-MDS) cases [6,7]. It was also evident that prognosis of patients deteriorates with in-