MPL W515 L/K mutations in myeloproliferative neoplasms

Eldeweny, Sohaila; Ibrahim, Hossam; El-Sayed, Ghada M.; Samra, Mohamed

doi:10.1186/s43042-019-0039-9

Cited by 3 publications

(2 citation statements)

References 32 publications

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“…Interestingly, our results showed that none of our MPN patients had MPL W515L/K mutations. Lieu and Eldeweny et al also reported that MPL W515L/K could not be found in 88 Taiwanese and 60 Egyptian patients with MPN [ 24 , 25 ]. Only 1–4% of MPL mutations were reported in two studies conducted among Korean and Chinese populations [ 20 ], [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)

Zulkeflee

Zulkafli

Johan

et al. 2021

IJERPH

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Mutations of JAK2V617F, CALR, and MPL genes confirm the diagnosis of myeloproliferative neoplasm (MPN). This study aims to determine the genetic profile of JAK2V617F, CALR exon 9 Type 1 (52 bp deletion) and Type 2 (5 bp insertion), and MPL W515 L/K genes among Malaysian patients and correlate these mutations with clinical and hematologic parameters in MPN. Mutations of JAK2V617F, CALR, and MPL were analyzed in 159 Malaysian patients using allele-specific polymerase chain reaction, including 76 polycythemia vera (PV), 41 essential thrombocythemia (ET), and 42 primary myelofibrosis (PMF) mutations, and the demographics of the patients were retrieved. The result showed that 73.6% JAK2V617F, 5.66% CALR, and 27.7% were triple-negative mutations. No MPL W515L/K mutation was detected. In ET and PMF, the predominance type was the CALR Type 1 mutation. In JAK2V617F mutant patients, serum LDH was significantly higher in PMF compared to PV and ET. PV has a higher risk of evolving to post PV myelofibrosis compared to ET. A thrombotic event at initial diagnosis of 40.9% was high compared to global incidence. Only one PMF patient had a CALR mutation that transformed to acute myeloid leukemia. JAK2V617F and CALR mutations play an important role in diagnostics. Hence, every patient suspected of having a myeloproliferative neoplasm should be screened for these mutations.

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Section: Discussionmentioning

confidence: 99%

Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN)

Zulkeflee

Zulkafli

Johan

et al. 2021

IJERPH

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“…Thrombosis and bleeding are the most common complication that cause the morbidity and mortality of patients with myeloproliferative neoplasm 14,16,19,21,22,23,29,29,37,38,38,40,41 . This review showed that among a total of 14706 MPN patients, 2735 thrombotic events happened and there are also many bleeding recorded.…”

Section: Discussionmentioning

confidence: 99%

The impact of thrombosis and bleeding among patients with Myeloproliferative Neoplasm: Systematic Review and Meta-Analysis

Brhanie

2020

Preprint

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Background: Thrombosis and bleeding are the most common complications which contribute to significant morbidity and mortality of myeloproliferative patients. This study aimed to find out the incidence of thrombotic and bleeding events during diagnosis and follow up among patients with myeloproliferative neoplasm. This might help in the early detection of thrombosis and bleeding and prevention of such complications for MPN patients. Methods: A systematic review and meta-analysis was conducted to assess the incidence of thrombosis and bleeding. Data extracted from the literatures in Google scholars, Mendeley, PubMed, and EMBASE databases. Studies that had thrombosis and/or bleeding reports with any types of myeloproliferative neoplasm were included in this study. We used random effect model to estimate the odd ratio, relative risk and risk difference with 95%CI of each studies and the pooled results based on Cochrane methods of Revman. A funnel plot and I2 test checked to see the publication bias and heterogeneity respectively. Results: Nineteen studies with 14706 participants that had fitted the inclusion criteria were included in the overall thrombosis study. Five studies (n=931) included for incidence thrombosis at diagnosis and follow up. The pooled overall frequency thrombosis was 18.6%. The pooled incidence of thrombosis at diagnosis was 26.5% and odds ratio (OR= 3.17,95%CI 0.96 to10.43); relative risk (RR= 2.07,95%CI 0.98 to 4.34); risk difference (RD=21%, 95%CI -0.05 to 0.48, high certainty). Thrombosis had significant differences during diagnosis and follow up. A history of thrombosis, age >60years, and smoking were some of the risk factors for thrombosis. Conclusions: Based on the findings, thrombosis and bleeding are the highest complications occurred among myeloproliferative neoplasm patients. This problem is also common both during diagnosis and follow up of MPN patients. Early detection and follow up is needed to prevent MPN complications. Keywords: Thrombosis, bleeding, MPN, diagnosis, follow up.

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