The Janus kinase 2 (JAK2) mutant V617F and other JAK mutants are found in patients with myeloproliferative neoplasms and leukemias. Due to their involvement in neoplasia and inflammatory disorders, Janus kinases are promising targets for kinase inhibitor therapy. Several small-molecule compounds are evaluated in clinical trials for myelofibrosis, and ruxolitinib (INCB018424, Jakafi®) was the fi...

Myelofibrosis shows a progressive clinical course and usually a poor, lethal prognosis. The molecular pathogenesis of this disease largely remains to be fully understood but the identification of the JAK2V617F mutation in more than half of patients was a major improvement in our understanding of the disease biology and may represent the first biologic marker useful for risk stratification, inde...

In a retrospective analysis of 205 patients (median age 62 years) with primary myelofibrosis and known JAK2V617F mutational status, 13.2% experienced a vaso-occlusive event at or prior to their diagnosis. After a median follow up of 31 months, post-diagnosis thrombosis occurred in 22 patients (10.7%), including 9 (4.4%) and 16 (7.8%) patients with a total of 9 arterial and 24 venous events, res...

Patients with essential thrombocythemia often complain of various subjective neurological symptoms. This prospective study aims to assess their incidence and response to therapy. Among 37 consecutive patients with essential thrombocythemia, 11 presented with neurological symptoms. Among them 4 had thrombotic events, 7 complained of transient or fluctuating subjective symptoms, and one had both....

Recently, a Jak2V617F mutation has been described in the vast majority of patients with polycythemia vera (PV) as well as in subsets of patients with essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). The question arises whether this mutation is observed in those patients with ET and IMF who have also displayed previously described molecular markers, notably the ability to form ...

Cuvinte cheie: Neoplazii mieloproliferative, trombocitemie esenţială, JAK2 Rezumat: Bolile sau neoplaziile mieloproliferative (BMP) sunt boli heterogene situate la nivelul celulei stem hematopoietice. Se caracterizează prin proliferare celulară şi maturare aparent matură. Trombocitemia esenţială (TE), policitemia vera (PV) şi metaplazia mieloidă agnogenică (MMA) sunt în mod curent clasificate c...

Germline mutations of the CHEK2 gene have been reported in some myeloid and lymphoid malignancies, but their impact on development of essential thrombocythemia has not been studied. In 16 out of 106 (15.1%) consecutive patients, newly diagnosed with essential thrombocythemia, we found one of four analyzed CHEK2 mutations: I157T, 1100delC, IVS2+1G>A or del5395. They were associated with the incr...

The discovery of the JAK2V617F mutation triggered an unexpected flowering of basic and clinical studies in the field of myeloproliferative neoplasms (MPNs), resulting after just a few years in an exceptional amount of new information. One important consequence of those new findings was the modification of the World Health Organization classification and diagnostic algorithms for these diseases,...

The detection of the JAK2V617F mutation has become an essential tool in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) diagnosis, as it is present in 95% of polycythemia vera (PV) patients and 60% of essential thrombocytemia (ET) or myelofibrosis patients. JAK2V617F-positive MPNs are different from other hematological malignant disease in that, although the JAK2V617F mutation is consider...