Incidence of Silent Thrombosis in Patients Younger Than 60 Years With Myeloproliferative Neoplasms: Single-Center Egyptian Study

Mattar, Mervat; Nassef, Sahar; Husseiny, Noha M. El; Masry, Mohamed Roshdy El; Salah, Marwa; Morad, Mohamed Abdelkader; Gawad, Ahmed Abdul

doi:10.1016/j.clml.2019.05.005

Cited by 5 publications

(2 citation statements)

References 15 publications

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“…Only 2 patients (0.69%) developed lower limb arterial thrombosis and 72 patients (25.2%) with venous thrombosis; 46 (16.08%) LLs, 23(8.04%) mesentric vein and 3 (1.04%) ULs. Mattar et al, (2019) Veroli et al, (2016) studied the incidence of thrombosis in patients with Philadelphia-Negative MPNs and reported 7 venous episodes of thrombosis in 1,087 patients during a median follow-up period of 18 months.…”

Section: Discussionmentioning

confidence: 99%

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

El-Ghonemy

El-Ashwah

Denewer

et al. 2021

Asian Pac J Cancer Prev

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Background: Philadelphia-negative myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis are clonal haematopoietic stem cell disorders characterized by dysregulated proliferation. The arterial and venous thromboses are the major causes of morbidity and mortality in MPNs. The platelet GP Ib-IX-V receptor complex plays an important role in thrombus formation as the Kozak sequence polymorphism of platelet GP Ibα is associated with increased receptor density. Materials and Methods: This study was conducted on 286 diagnosed patients with Ph-negative MPNs (94 patients of PV, 102 of ET and 90 of MF). In addition, 107 apparently healthy individuals served as a control group. Results: This study revealed that by taking rs2243093 TT as the reference genotype and T as the reference allele; TC, CC, TC+CC genotypes showed lower frequency in ET patients (p= 0.005, 0.007 and 0.001 respectively) and MF patients (p= 0.002, 0.047 and 0.001 respectively) when compared to control groups also, C allele in both groups compared to control (p ≤ 0.001 both). CC genotypes and C allele showed lower frequency in PV patients when compared to control groups (p= 0.032 and 0.026 respectively). Conclusion:From this study we could conclude that patients with Philadelphia-negative MPNs carried Kozak gene polymorphism significantly TT genotype in all patients PV, ET, MF patients and TC in ET and MF patients. The platelet glycoprotein Ibα (Kozak) gene could be incorporated into the routine workup to predict venous thrombosis in patients with Ph-negative MPNs specially ET patients.

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Section: Discussionmentioning

confidence: 99%

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

El-Ghonemy

El-Ashwah

Denewer

et al. 2021

Asian Pac J Cancer Prev

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“…This is because individuals with thrombosis are usually accompanied by a higher prevalence of pruritus (p = 0.02) and abdominal pain (p = 0.03). In contrast, patients with venous thrombosis, particularly of the portal vein or unusual sites, should also be screened for MPN [65]. SVT comprises portal vein thrombosis (PVT) and Budd-Chiari syndrome (BCS), which are the common first presenting symptoms in latent MPN [66][67][68].…”

Section: Jak2 V617fmentioning

confidence: 99%

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology

et al. 2023

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Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.

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Association of JAK2V617F allele burden and clinical correlates in polycythemia vera: a systematic review and meta-analysis

Chen,

Lin

et al. 2024

Ann Hematol

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Janus kinase 2 (JAK2) V617F mutation is present in most patients with polycythemia vera (PV). One persistently puzzling aspect unresolved is the association between JAK2V617F allele burden (also known as variant allele frequency) and the relevant clinical characteristics. Numerous studies have reported associations between allele burden and both hematologic and clinical features. While there are strong indications linking high allele burden in PV patients with symptoms and clinical characteristics, not all associations are definitive, and disparate and contradictory findings have been reported. Hence, this study aimed to synthesize existing data from the literature to better understand the association between JAK2V617F allele burden and relevant clinical correlates. Out of the 1,851 studies identified, 39 studies provided evidence related to the association between JAK2V617F allele burden and clinical correlates, and 21 studies were included in meta-analyses. Meta-analyses of correlation demonstrated that leucocyte and erythrocyte counts were significantly and positively correlated with JAK2V617F allele burden, whereas platelet count was not. Meta-analyses of standardized mean difference demonstrated that leucocyte and hematocrit were significantly higher in patients with higher JAK2V617F allele burden, whereas platelet count was significantly lower. Meta-analyses of odds ratio demonstrated that patients who had higher JAK2V617F allele burden had a significantly greater odds ratio for developing pruritus, splenomegaly, thrombosis, myelofibrosis, and acute myeloid leukemia. Our study integrates data from approximately 5,462 patients, contributing insights into the association between JAK2V617F allele burden and various hematological parameters, symptomatic manifestations, and complications. However, varied methods of data presentation and statistical analyses prevented the execution of high-quality meta-analyses.

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Incidence of Silent Thrombosis in Patients Younger Than 60 Years With Myeloproliferative Neoplasms: Single-Center Egyptian Study

Cited by 5 publications

References 15 publications

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology

Association of JAK2V617F allele burden and clinical correlates in polycythemia vera: a systematic review and meta-analysis

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