Progress of BCR-ABL fusion gene and JAK2 V617F mutation double-positive myeloproliferative neoplasms / 白血病·淋巴瘤

Myeloproliferative neoplasms (MPN) are a group of clonal disorders of hematopoietic stem cells, and JAK2 V617F gene mutation is the main basis for the diagnosis of MPN. Previous studies have shown that BCR-ABL fusion gene and JAK2 V617F gene mutation are mutually exclusive in MPN patients, but in recent years, patients with a double mutation of both genes are often reported. The article synthesizes the relevant domestic and foreign literature in recent years, and reviews the BCR-ABL fusion gene and JAK2 V617F mutation double-positive MPN.

Differential diagnosis of masked polycythemia vera and polycythemia vera / 白血病·淋巴瘤

Objective To explore the method for early diagnosis of masked polycythemia vera (mPV) by comparing and analyzing the features of mPV and polycythemia vera (PV). Methods A total of 200 newly diagnosed male patients were collected based on diagnostic criteria, including 100 cases of PV and 100 cases of mPV. Erythropoietin (EPO), neutrophil alkaline phosphatase (NAP) score, bone marrow biopsy (BMB), and JAK2 V617F mutation were evaluated in all cases. After 6 months, hemoglobin (Hb) and JAK2 V617F mutation load were detected in patients without special treatment in two groups during follow-up. Results EPO, NAP score, BMB hematopoietic volume and the number of megakaryocyte had no statistical differences between PV group and mPV group [(3.4 ± 0.7) U/ml vs. (3.2±0.6) U/ml, (276±20) score vs. (278±21) score, (78±10) % vs. (76±9) %, (53±6) vs. (51±5), respectively], while JAK2 V617F mutation load in PV group was higher than that in mPV group[(89.2±9.4) % vs. (78.1±8.6) %, P<0.05]. In mPV patients without special treatment, Hb ≥185 g/L was found in 37 patients after 6 months, and the level of Hb and JAK2 V617F mutation load in these 37 patients reached (194±8) g/L and (90.7±9.1) %, respectively. Conclusions There is no significant difference in EPO, NAP score and BMB between PV and mPV, but the JAK2 V617F mutation load is different. In mPV patients without special treatment, Hb level can reach the typical PV diagnostic criteria after 6 months, meanwhile, JAK2 V617F mutation load is also increased.

Relationship between JAK2 V617F gene mutation and vascular embolism diseases / 白血病·淋巴瘤

Objective To investigate the relationship between JAK2 V617F mutation and vascular embolism diseases,in order to provide important basis for clinical diagnosis and treatment and prevention of embolism.Methods Patients who were hemoglobin ＞ 160 g/L,platelets ＞ 300×109/L treated in department of neurology,heart and vascular surgery in Xuanwu Hospital of Capital Medical University were collected.Vessel embolism and JAK2 V617F mutation situation and correlation were retrospectively analyzed.Results Among the total 56 cases,JAK2 V617F gene mutation positive rate was 37.50 ％ (21/56),the incidence of embolism was 40.07 ％ (23/56),there was correlation between JAK2 V617F mutation and embolism (P =0.014).Conclusion JAK2 V617F mutation is helpful to early diagnosis and treatment of myeloproliferative neoplasm,reduce thrombosis complication,improve the quality of life.

The diagnosis and treatment of Philadelphia chromosome-negative myeloproliferative neoplasms:evaluation of JAK2 V617F gene mutation / 白血病·淋巴瘤

The knowledge and understanding of myeloproliferative neoplasms (MPN) over the last hundred years has been reviewed in this article,focusing on clinical practice.The identification of JAK2 V617F gene mutation leads Philadelphia chromosome-negative (Ph) MPN into a new era of molecular biology.These advances not only provide a reliable diagnostic tool and important evidence for diagnosis of MPN,also induce a lot of investigation and manufacture of targeting drugs to JAK2 mutation.However,JAK2 V617F mutation is not the gold standard for the diagnosis of MPN,as unique as bcr-abl in CML.Certain routine lab results and differentiation with some other diseases are still necessary.A JAK1/JAK2 inhibitor,ruxolitinib,has been approved for clinical use,but indication should be followed.Further follow-up is needed to assess the longterm outcomes with respect to efficacy and safety.It is not time to give up conventional medicine,such as hydroxyurea or aspirin.

Myeloproliferative neoplasms:ten years after the discovery of JAK2 V617F gene mutation / 白血病·淋巴瘤

This article focuses on the rapidly evolving understanding of the molecular pathogenetic mechanisms of the bcr-abl-negative myeloproliferative neoplasms (MPN) [myeloproliferative disorders (MPD)],such as polycythemia vera (PV),essential thrombocythemia (ET),and primary myelofibrosis (MF).The amplify therapies were reviewed and IFN-α is an effective agent for these MPN (MPD).Also,the article emphasize once again avoidance MPN and select MPD for such chinese patients.

Advances in the treatment of JAK2 V617F gene mutation positive myeloproliferative neoplasms / 白血病·淋巴瘤

JAK2 V617F gene mutation positive myeloproliferative neoplasms (MPN) consists of polycythemia vera (PV),essential thrombocythemia (ET) and primary myelofibrosis (PMF).This article focuses on their risk scoring systems and treatment including first-and second-line therapies,JAK2 inhibitors,cytoreduction,antifibrosis and other single-agent or combination therapy.