Telomere shortening in Ph-negative chronic myeloproliferative neoplasms: a biological marker of polycythemia vera and myelofibrosis, regardless of hydroxycarbamide therapy.

The purpose of this study was to investigate telomere length (TL) in Ph-negative chronic myeloproliferative neoplasms (Ph-neg-CMNs), and the possible association of TL with disease progression and hydroxycarbamide (HU) treatment. TL was analyzed in peripheral blood samples from 239 patients with Ph-neg-CMNs, including polycythemia vera (PV), essential thrombocythemia and myelofibrosis (MF), and compared with age-matched healthy control subjects (CTR), along with some cases of secondary erythrocytosis (SE). More than half of the patients with CMN received at least 1 year of cytoreduction, mainly HU, before TL analysis. JAK2 mutation analysis was performed as well. TL was significantly shortened in patients with CMN compared with CTR (p < 0.0001). PV and MF showed the most pronounced decrease (p < 0.0001), whereas both essential thrombocythemia and SE showed no significant difference in TL compared with CTR. A short TL correlated with JAK2-V617F allele burden greater than 50% (p = 0.0025), age (p = 0.0132) and diagnosis of PV (p = 0.0122). No correlation was found with disease duration, history of thrombosis, cytoreductive treatment, antiaggregation agents, adverse cytogenetics, phlebotomies, or time to evolution to MF. In summary, TL is distinctly shortened in PV and MF, and it inversely correlates with JAK2V617F allele burden. In addition, HU is unlikely to contribute to telomere erosion. Lastly, PV and SE significantly differ in TL. Therefore, TL could be an additional diagnostic marker to identify and monitor Ph-neg-CMN patients.

Ruella M ，Salmoiraghi S ，Risso A ，Carobbio A ，Buttiglieri S ，Spatola T ，Sivera P ，Ricca I ，Barbui T ，Tarella C ，Rambaldi A ... -  《-》

Current diagnostic criteria for the chronic myeloproliferative disorders (MPD) essential thrombocythemia (ET), polycythemia vera (PV) and chronic idiopathic myelofibrosis (CIMF).

Michiels JJ ，Bernema Z ，Van Bockstaele D ，De Raeve H ，Schroyens W ... -  《Current Research in Translational Medicine [原pathologie biologie]》

The presence of JAK2V617F in primary myelofibrosis or its allele burden in polycythemia vera predicts chemosensitivity to hydroxyurea.

JAK2V617F-positive patients with essential thrombocythemia, as opposed to their mutation-negative counterparts, require lower doses of hydroxyurea (HU) for control of their platelet count. In the current study, we looked for predictors of HU response in 69 patients with primary myelofibrosis (PMF) and 56 with polycythemia vera (PV). JAK2V617F analysis was performed on bone marrow-derived DNA obtained at or near the time of diagnosis. HU response in PMF was associated with a shorter disease duration (P = 0.008), absence of previous therapy (P = 0.01), older age at diagnosis (P = 0.009), and presence of JAK2V617F (P = 0.02). On multivariable analysis, only the latter retained its significance (48% vs. 8% response in mutation positive vs. negative cases). In PV, JAK2V617F allele burden correlated directly with HU response (P = 0.05) and inversely with daily HU dose in responding patients (P = 0.02). The current study suggests that JAK2V617F presence identifies PMF patients who are likely to respond to HU therapy, and information on its allele burden helps in assigning the optimal starting dose in individual patients with PV.

Sirhan S ，Lasho TL ，Hanson CA ，Mesa RA ，Pardanani A ，Tefferi A ... -  《-》

[Significance of the JAK2V617F mutation in patients with chronic myeloproliferative neoplasia].

Iványi JL ，Marton E ，Plander M 《ORVOSI HETILAP》

Application of PRV-1 mRNA expression level and JAK2V617F mutation for the differentiating between polycytemia vera and secondary erythrocytosis and assessment of treatment by interferon or hydroxyurea.

Tutaeva V ，Misurin AV ，Michiels JJ ，Rozenberg JM ，Sokolova MA ，Ivanova VL ，Kolosheinova TI ，Manakova TE ，Levina AA ，Semenova EA ，Khoroshko ND ... -  《-》