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. 2013 Aug;37(8):917-21.
doi: 10.1016/j.leukres.2013.03.013. Epub 2013 Apr 15.

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

Anna Angona  1 , Beatriz Bellosillo, Alberto Alvarez-Larrán, Luz Martínez-Avilés, Laura Camacho, Silvia Pairet, Maria Concepción Fernández-Rodriguez, Agueda Ancochea, Carles Besses
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Genetic predisposition to molecular response in patients with myeloproliferative neoplasms treated with hydroxycarbamide

Anna Angona et al. Leuk Res. 2013 Aug.

Abstract

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.

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