Myelodysplastic syndrome (MDS) represent heterogeneous group of disorders with a variety of features including peripheral cytopenia, characteristic morphological findings and cytogenetic abnormalities in bone marrow. Some genes are reported to be involved in the pathogenesis of MDS such as IDH1-2, TET2 and ASXL1. Thus, identifying the recent mutations of these genes and genotyping the patients for these mutations might have clinical impact in MDS. We aimed to determine the genotype distribution and allele frequency of selected genes in MDS cases. Total 100 patients were genotyped for 5 mutations. For DNA isolation was peripheral blood was used. The cases were genotyped with sequence detection Systems software for allelic discrimination for each mutation. Age at diagnosis, gender, WHO classification, IPSS group, diagnosis (WBC-Hb-PLT) compared with polymorphisms (wild-type, heterozygous, homozygous mutants) were not statistically significant differences. Only ASXL1 heterozygous group median age at diagnosis was significantly higher than homozygous (p=0,048). No significant association with the prognostic impact any of the polymorphisms. TET2 heterozygous polymorphic group of azacitidine treatment response was significantly higher compared to the wild type. (p=0,042). Our study is the starting point for genotyping these polymorphisms that might have clinical guidance for MDS.
MDS, SNP, TET2, ASXL1, IDH1, IDH2