Clonal hematopoiesis by DNMT3A mutations as a common finding in idiopathic splanchnic vein thrombosis

Carrà, Giovanna; Gatto, Emilia; Camerlo, Sofia; Rosati, Giorgio; Branca, Enrica; Maffeo, Beatrice; Russo, Isabella; Cilloni, Daniela; Morotti, Alessandro

doi:10.3324/haematol.2022.281705

Cited by 11 publications

(9 citation statements)

References 17 publications

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“…One such circumstance is the occurrence of idiopathic splanchnic vein thromboses (SVTs), which include thrombosis in the portal, hepatic, mesenteric, and splenic veins. These SVTs have been found to precede the diagnosis of MPNs and have also been associated with clonal hematopoiesis of indeterminate potential (CHIP) by DNMT3A mutations [ 4 , 5 ]. Additionally, JAK2V617F -mutated CHIP has been observed in individuals with arterial thrombosis, such as ischemic stroke [ 6 ].…”

Section: To the Editormentioning

confidence: 99%

Concerns regarding myelofibrosis-type megakaryocyte dysplasia

Cai,

Wang,

Yang

et al. 2024

Leukemia

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Section: To the Editormentioning

confidence: 99%

Concerns regarding myelofibrosis-type megakaryocyte dysplasia

Cai,

Wang,

Yang

et al. 2024

Leukemia

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“…Recently, we have reported the increased incidence of clonal hematopoiesis of indeterminate potential (CHIP) in a cohort of idiopathic-SVT [96]. Clonal hematopoieisis (CH) defines a population of hematopoietic cells with one or more somatic mutations or copy number alterations, able to expand overtime with a positive selection pressure.…”

Section: New Insights In Svt: a Role For Clonal Hematopoiesis?mentioning

confidence: 99%

Shedding Light on the Pathogenesis of Splanchnic Vein Thrombosis

Camerlo

Ligato

Rosati

et al. 2023

IJMS

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Splanchnic vein thrombosis is a rare but potentially life-threatening manifestation of venous thromboembolism, with challenging implications both at the pathological and therapeutic level. It is frequently associated with liver cirrhosis, but it could also be provoked by myeloproliferative disorders, cancer of various gastroenterological origin, abdominal infections and thrombophilia. A portion of splanchnic vein thrombosis is still classified as idiopathic. Here, we review the mechanisms of splanchnic vein thrombosis, including new insights on the role of clonal hematopoiesis in idiopathic SVT pathogenesis, with important implications from the therapeutic standpoint.

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“…Similarly, when atherosclerosis-prone Ldlr À/À mice were transplanted with p53-deficient hematopoietic cells, they were found to have increased aortic atherosclerotic plaque size and macrophage accumulation. 9 Several papers have highlighted novel associations with other nonmalignant human conditions such as type 2 diabetes mellitus, 6,10 osteoporosis, 11 chronic obstructive pulmonary disease, 12 gout, 13 and venous thrombosis, 14 and severity of chronic ischemic heart failure. 15 However, the clinical applications of CH testing are still limited due to lack of prospective data, especially over the uncertainty that does an early diagnosis of CH offers any measurable clinical benefit.…”

mentioning

confidence: 99%

Clonal hematopoiesis of indeterminate potential and clonal cytopenias of undetermined significance: 2023 update on clinical associations and management recommendations

Mangaonkar

Patnaik

2023

American J Hematol

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Condition Overview: Clonal hematopoiesis (CH) refers to age-associated expansion of somatic variants in hematopoietic stem and progenitor cells (HSPC).Diagnosis: CH of indeterminate potential (CHIP) is operationally defined as pathogenic variants in HSPCs at a variant allele frequency ≥2%.Clinical Associations: CH is associated with increased occurrence of several hematological conditions such as cytopenias (also called clonal cytopenia of undetermined significance), hematological (predominantly myeloid but also lymphoid) neoplasms, cytosis (including monocytosis), and non-hematological conditions such as atherosclerotic cardiovascular and cerebrovascular disease, ischemic congestive heart failure, venous thromboembolism, type 2 diabetes mellitus, chronic obstructive pulmonary disease, osteoporosis, gout, with a potential protective effect in Alzheimer's disease (AD).Management Recommendations: As of now, there is limited prospective data for CH testing; however, CH detection is becoming increasingly prevalent due to ubiquitous use of somatic and germline NGS testing. This in addition to data suggesting that therapy related myeloid neoplasm (tMN) in many cases is preceded by the detection of CH clones, has led to the establishment of CH clinics at several institutions. At our institution, on a research basis, we currently recommend testing for CH for individuals with persistent (≥4 months) unexplained cytopenias, in patients with malignancies prior to adjuvant cytotoxic chemotherapy and/or radiation or radionuclide therapy, screening prior to autologous hematopoietic stem cell transplantation and chimeric antigen receptor T cell (CAR-T) therapy and to assess as to whether or not, potential germline mosaic variants actually represent CH. | INTRODUCTIONClonal hematopoiesis (CH) is defined by the detection of somatic variants in hematopoietic stem and progenitor cells, with the potential to expand over time, based on clonal selection pressures. CH was first identified by observing non-random chromosome X-inactivation patterns in the myeloid compartment of healthy women increasing with age, suggesting age-related clonal expansions, 1,2 and confirmed subsequently to be secondary to somatic TET2 mutations, laying the groundwork for future studies in CH involving large numbers of biobanked samples. 3 Interestingly, CH mutations predominantly affect the epigenetic regulator genes (most commonly; DNMT3A, TET2 and ASXL1) and also occur in myeloid neoplasms, suggesting that CH is a neoplastic precursor event, akin to monoclonal gammopathy in plasma

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Clonal hematopoiesis by DNMT3A mutations as a common finding in idiopathic splanchnic vein thrombosis

Abstract: Not available.

Cited by 11 publications

References 17 publications

Concerns regarding myelofibrosis-type megakaryocyte dysplasia

Concerns regarding myelofibrosis-type megakaryocyte dysplasia

Shedding Light on the Pathogenesis of Splanchnic Vein Thrombosis

Clonal hematopoiesis of indeterminate potential and clonal cytopenias of undetermined significance: 2023 update on clinical associations and management recommendations

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