Abstrakt
The myelodysplastic syndromes (MDS) are a heterogenous group of clonal diseases of haematopoietic stem cells characterized by ineffective haemopoiesis with various clinical presentations of peripheral cytopenias and a tendency to progress to acute myeloid leukaemia (AML). The molecular pathogenesis of MDS and why it evolves to AML remains unclear.
NAD(P)H quinone dehydrogenase 1 (NQO1) is an enzyme that detoxifies quinones and reduces oxidative stress. The naturally occurring germline polymorphism of NQO1 (NQO1*2) with a cytosine-to-thymidine (C RIGHTWARDS ARROW T) substitution at nucleotide position 609 of the NQO1 cDNA (NQO1(C609T)) results in the loss of NQO1 activity and rapid degradation of the protein encoded by NQO1*2 due to an unstable structure (Lienhart et al, 2014).
Here we examined how the presence of NQO1*2 polymorphism affects the development and progression of MDS and assessed the correlation between NQO1*2 and the overall survival (OS, calculated from the date of diagnosis), presence of karyotypic abnormalities, and response to hypomethylating therapy in MDS patients.