Genetic predisposition to molecular response in patients with myeloproliferative neoplasms treated with hydroxycarbamide

JAK2V617F allele burden was prospectively measured in polycythemia vera (PV, n = 52) and essential thrombocythemia (ET, n = 39) patients receiving hydroxycarbamide (HC) and analyzed according to JAK2 46/1 haplotype and genotype of SLC14A1, SLC14A2 and ARG2 urea transporters. Molecular response (MR) was obtained in 68.7% and 38.9% of PV patients with GG and AA or GA genotype in SLC14A2, respectively (p = 0.07). No significant differences were observed neither in PV nor in ET according to JAK2 46/1 haplotype, SLC14A1 and ARG2. In conclusion, JAK2 46/1 haplotype does not influence MR in HC treated patients and urea transporters polymorphisms display a minimal effect.