Exploring the Molecular Aspects of Myeloproliferative Neoplasms Associated with Unusual Site Vein Thrombosis: Review of the Literature and Latest Insights

Morsia, Erika; Torre, Elena; Martini, Francesco; Morè, Sonia; Poloni, Antonella; Olivieri, Attilio; Rupoli, Serena

doi:10.3390/ijms25031524

Cited by 3 publications

(2 citation statements)

References 88 publications

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“…It is worth noting that the JAK2 V617F mutation is a critical factor in MPN, which is associated with SVT. However, around 14-20% of SVT patients with MPN do not have this mutation [35]. Regarding the clinical risk, patients with JAK2-unmutated MPN-SVT do not statistically differ from those with JAK2-mutated MPN-SVT.…”

Section: Discussionmentioning

confidence: 91%

“…As a limit of our work, we did not evaluate the numerous non-driver somatic mutations affecting the genes responsible for various cellular processes identified in MPN (DNA methylation: TET2, DNMT3A, IDH1-IDH2; chromatin spliceosome: ASXL1, EZH2, SF3B1, SRSF2, U2AF1, ZRSF2; and others, such as TP53) [35]. This choice was defined because many of these mutations have been found in otherwise healthy individuals, and their prevalence increases with age.…”

Section: Discussionmentioning

confidence: 99%

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ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms

Castelli,

Berzuini,

Manetti

et al. 2024

Life

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Background: Myeloproliferative neoplasms (MPNs) are often associated with splanchnic vein thrombosis (SVT). Not all the factors involved in the thrombotic tendency are currently known. Objectives: This study aims to evaluate a possible association between ADAMTS13, von Willebrand factor (VWF), platelet microvesicles (MV), and factor VIII activity (FVIII:C) with thrombotic events in MPN patients. Materials and methods: In total, 36 consecutive MPN patients with SVT were enrolled. The MPNs were diagnosed based on clinical characteristics and one or more gene mutations among JAK-2, CALR, and MPL. As controls, 50 randomly selected patients with MPN without thrombosis, 50 patients with deep vein thrombosis without MPNs, and 50 healthy blood donors were evaluated. Complete blood count, ADAMTS13, VWF, MV, and FVIII:C in plasma were measured in all the subjects. Results: The JAK-2 mutation was found in 94% of the patients with SVT, but none were triple-negative for genetic mutations (JAK2 V617F, CALR, MPL, and exon 12). Compared to the normal subjects, in all the MPN patients (with or without SVT), the levels of ADAMTS13 were found to be significantly lower (p < 0.001) and the MV concentrations were significantly higher (p < 0.001). Among the MPN patients, the VWF and FVIII:C levels were significantly higher in the patients with SVT than those without thrombosis (p = 0.007 and p = 0.04, respectively). Splenomegaly was present in 78% of MPN patients with SVT and in 30% of those without SVT (p < 0.001). The ADAMTS13/VWF ratio was reduced in all the patients, but not in the healthy blood donors (p < 0.001). Conclusions: The significant increase in circulating MV, VWF, and FVIII:C in the MPN patients and in the patients with thrombosis supports the role of endothelium damage in promoting thrombotic events. In particular, a significant increase in VWF and FVIII:C levels was found in the MPN patients with SVT.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms

Castelli,

Berzuini,

Manetti

et al. 2024

Life

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Risk factors for ischemic stroke in patients with Philadelphia chromosome (Ph)–negative myeloproliferative neoplasms

Wen,

Zhang,

Fei

et al. 2024

Journal of Clinical Neuroscience

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Thrombotic, Cardiovascular, and Microvascular Complications of Myeloproliferative Neoplasms and Clonal Hematopoiesis (CHIP): A Narrative Review

Schafer,

Mann

2024

JCM

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The most common causes of morbidity and mortality in the myeloproliferative neoplasms (MPNs), with the exception of myelofibrosis, are venous and arterial thrombosis, as well as more recently discovered cardiovascular disease (CVD). Clonal hematopoiesis of indeterminate potential (CHIP) is the subclinical finding in an individual of somatic mutations that are also found in clinically overt MPNs and other myeloid malignancies. The prevalence of “silent” CHIP increases with age. CHIP can transform into a clinically overt MPN at an estimated rate of 0.5 to 1% per year. It is likely, therefore, but not proven, that many, if not all, MPN patients had antecedent CHIP, possibly for many years. Moreover, both individuals with asymptomatic CHIP, as well as clinically diagnosed patients with MPN, can develop thrombotic complications. An unexpected and remarkable discovery during the last few years is that even CHIP (as well as MPNs) are significant, independent risk factors for CVD. This review discusses up-to-date information on the types of thrombotic and cardiovascular complications that are found in CHIP and MPN patients. A systemic inflammatory state (that is often subclinical) is most likely to be a major mediator of adverse reciprocal bone marrow–cardiovascular interplay that may fuel the development of progression of MPNs, including its thrombotic and vascular complications, as well as the worsening of cardiovascular disease, possibly in a “vicious cycle”. Translating this to clinical practice for hematologists and oncologists who treat MPN patients, attention should now be paid to ensuring that cardiovascular risk factors are controlled and minimized, either by the patient’s cardiologist or primary care physician or by the hematologist/oncologist herself or himself. This review is intended to cover the clinical aspects of thrombosis and cardiovascular complications in the MPN, accompanied by pathobiological comments.

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Exploring the Molecular Aspects of Myeloproliferative Neoplasms Associated with Unusual Site Vein Thrombosis: Review of the Literature and Latest Insights

Cited by 3 publications

References 88 publications

ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms

ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms

Risk factors for ischemic stroke in patients with Philadelphia chromosome (Ph)–negative myeloproliferative neoplasms

Thrombotic, Cardiovascular, and Microvascular Complications of Myeloproliferative Neoplasms and Clonal Hematopoiesis (CHIP): A Narrative Review

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