Re: Prognostic value of CALR vs. JAK2V617F mutations on splenomegaly, leukemic transformation, thrombosis, and overall survival in patients with primary fibrosis: a meta-analysis

Kourié, Hampig Raphaël; Ameye, Lieveke; Paesmans, Marianne; Bron, Dominique

doi:10.1007/s00277-016-2830-8

Cited by 2 publications

(2 citation statements)

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“…A recent meta-analysis has shown that CALR and JAK2V617F mutations are linked to alterations in blood counts and thrombosis [ 62 ]. JAK2V617F poses a high risk of thrombosis in the general population, even at and extremely low VAF, and is overrepresented among patients with thrombosis.…”

Section: Somatic Mutation Search In Pad-related Thrombosismentioning

confidence: 99%

“…The prevalence of JAK2V617F in each thrombosis group was higher than in the control group, indicating that the JAK2V617F mutation may increase the risk of both arterial and venous thrombosis, especially in the context of the population with clonal hematopoiesis. According to the subgroup analysis, the prevalence of the JAK2V617F mutation was highest in patients with splanchnic vein thrombosis (18.7%), then in those with ischemic stroke (8.5%), cerebral vein thrombosis (6.0%), deep vein thrombosis/pulmonary embolism (1.6%), and PADs (3.1%), respectively [ 62 ]. A previous report revealed that the prevalence of JAK2V617F mutation was higher in a cohort of patients with sonographically confirmed PADs compared to a group of healthy subjects.…”

Section: Somatic Mutation Search In Pad-related Thrombosismentioning

confidence: 99%

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Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression

Salybekov,

Hassanpour

2023

Biomedicines

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Peripheral arterial diseases (PADs) are complex cardiovascular conditions influenced by environmental factors and somatic mutations in multiple genes involved in hematopoiesis and inflammation. While traditional risk factors, such as smoking, hypercholesterolemia, and hypertension, have been extensively studied, the role of somatic mutations in PAD progression remains underexplored. The present article intends to provide a comprehensive commentary of the molecular mechanisms, genetic landscape, prognostic significance, and clinical implications of somatic mutations in PADs. The expansion of clonal hematopoiesis of indeterminate potential (CHIP) clones in the circulating blood, named clonal hematopoiesis (CH), leads to the infiltration of these clones into atherosclerotic plaques and the production of inflammatory cytokines, increasing the risk of cardiovascular diseases, including PADs. Furthermore, recent experimental evidence has demonstrated the involvement of somatically mutated TP53 genes with a high variant allele frequency (VAF) in PAD development and prognosis. This review delves into the relationship between CH and PADs, elucidating the prevalence, impact, and underlying mechanisms of this association. This understanding paves the way for novel therapeutic approaches targeting CHIP to promote tissue regeneration and improve outcomes in PAD patients. It emphasizes the need for further research to fully unravel the genetic footprint of the disease and highlights potential clinical implications. The findings presented in this article lay the foundation for personalized medicine approaches and open avenues for the development of targeted therapies based on somatic mutation profiling.

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Section: Somatic Mutation Search In Pad-related Thrombosismentioning

confidence: 99%

Section: Somatic Mutation Search In Pad-related Thrombosismentioning

confidence: 99%

Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression

Salybekov,

Hassanpour

2023

Biomedicines

View full text Add to dashboard Cite

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Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Diseases Progression

Salybekov¹,

Hassanpour²

2023

Preprint

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Peripheral arterial diseases (PAD) are complex cardiovascular conditions influenced by environmental factors and somatic mutations in multiple genes involved in hematopoiesis and inflammation. While traditional risk factors such as smoking, hypercholesterolemia, and hypertension have been extensively studied, the role of somatic mutations in PAD progression remains underexplored. This article aims to provide a comprehensive review of the molecular mechanisms, genetic landscape, prognostic significance, and clinical implications of somatic mutations in PAD. The expansion of clonal hematopoiesis of indeterminate potential (CHIP) clones in the circulating blood, named clonal hematopoiesis (CH), leads to the infiltration of these clones into atherosclerotic plaques and the production of inflammatory cytokines, increasing the risk of cardiovascular diseases including PAD. Furthermore, recent experimental evidence has demonstrated the involvement of somatically mutated TP53 genes with a high variant allele frequency (VAF) in PAD development and prognosis. The review delves into the relationship between CH and PAD, elucidating the prevalence, impact, and underlying mechanisms of this association. This understanding paves the way for novel therapeutic approaches targeting CHIP to promote tissue regeneration and improve outcomes in PAD patients. It emphasizes the need for further re-search to fully unravel the genetic footprint of the disease and highlights potential clinical implications. The findings presented in this article lay the foundation for personalized medicine approaches and open avenues for the development of targeted therapies based on somatic mutation profiling.

show abstract

Re: Prognostic value of CALR vs. JAK2V617F mutations on splenomegaly, leukemic transformation, thrombosis, and overall survival in patients with primary fibrosis: a meta-analysis

Cited by 2 publications

References 4 publications

Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression

Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Disease Progression

Unveiling the Genetic Footprint: Exploring Somatic Mutations in Peripheral Arterial Diseases Progression

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