Analysis of TET-2 gene mutation and its correlation with prognostic parameters in patients with myelodysplastic syndrome and chronic myeloproliferative disorders

Aim: Myelodysplastic syndrome is an acquired clonal hematopoietic stem cell disorder. Myelodysplastic syndrome is generally a disease of old age. The median age at diagnosis is 65-70. A number of genetic changes are believed to play a role in neoplastic transformation of pluripotent stem cells in Myelodysplastic syndrome. In the literature, a large number of mutations and chromosomal aberrations were identified to be associated with Myelodysplastic syndrome. The diagnosis of Myelodysplastic syndrome is based on dysmorphic bone marrow findings as well as peripheral blood cytopenias. TET2 is a member of a family of genes with important roles in epigenetic programming. TET- 2 mutations were previously detected in tumors of lymphoid or myeloid malignancies. In this study, we aimed to investigate the incidence rates of TET- 2 mutations in patients with Myelodysplastic syndrome and to determine whether presence of TET-2 mutation correlates with prognostic indicators. Material and Methods: The present thesis was conducted at hematology department of Çukurova university faculty of medicine. Patients with Myelodysplastic syndrome whose initial diagnosis and follow-up were made were selected for the study. 19 patients with Myelodysplastic syndrome has been identified. PCR and mini-sequencing were performed for KRAS gene (codon12, 13) mutations and PCR and DNA lineage analysis were performed for TET 2 gene and BCL gene (exon 8,9). Results: TET-2 gene mutation was identified in 14 of 19 cases examined. Single mutation inTET-2 gene was identified in 4 cases and more than one mutation has been identified mutations in 10 cases. In 5 of 19 patients (26%) TET-2 gene mutations that are likely to affect protein structure and function have been identified. Conclusion: TET-2 mutation rate in our patients is consistent with the literature. Due to low sample size we were unable to investigate the relationship between prognostic marker in MYELODYSPLASTİC SYNDROME TET-2 mutations. However this issue certainly merits further studies.