Author(s): Kiladjian JJ, Cassinat B, Turlure P, Cambier N, Roussel M,
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Abstract V617F JAK2 mutation is a reliable molecular marker of polycythemia vera (PV), potentially useful to monitor the effect of treatments in this disease. In a phase 2 study of pegylated (peg) IFN-alpha-2a in PV, we performed prospective sequential quantitative evaluation of the percentage of mutated JAK2 allele (\%V617F) by real-time polymerase chain reaction (PCR). The \%V617F decreased in 24 (89\%) of 27 treated patients, from a mean of 49\% to a mean of 27\% (mean decrease of 44\%; P < .001), and no evidence for a plateau was observed. In one patient, mutant JAK2 was no longer detectable after 12 months. In 3 patients homozygous for the mutation, reappearance of 50\% of wild-type allele was observed during treatment. The results seem to confirm the hypothesis that IFN-alpha preferentially targets the malignant clone in PV and show that \%V617F assessment using a quantitative method may provide the first tool to monitor minimal residual disease in PV. This trial was registered at www.clinicaltrials.gov as #NCT00241241.
This article was published in Blood
and referenced in Autism-Open Access