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<p>The Janus kinase 2 (JAK2) V617F mutation is recognized as a defining molecular lesion in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). This mutation was recognized in the context of clonal hematopoiesis of indeterminate potential, which has recently been linked with cardiovascular disease. Recent evidence has demonstrated a significant correlation between JAK2 mutations and thoracic aortic aneurysm (TAA) a condition frequently lacking identifiable risk factors<b>.</b> A scoping review, involving MEDLINE, Embase, Web of Science, Google Scholar, and prominent hematology and cardiology conference abstracts (from inception to August 2025) was performed. All studies that indicate a correlation between JAK2 mutations and aortic aneurysms were included. Seven studies with a total of 446,839 participants were found. Among these, 745 (0.17%) tested positive for JAK2. Data consistently indicated an elevated risk of thoracic aortic aneurysm (TAA), but not abdominal aortic aneurysm, in individuals with JAK2 mutations. Proposed mechanisms include inflammatory cytokine signaling, macrophage activation, and degradation of the extracellular matrix. Emerging clinical data indicate a consistent association between JAK2 V617F–mutated clonal hematopoiesis or myeloproliferative neoplasms and thoracic aortic aneurysm, with less consistent findings for abdominal aneurysm. Although experimental studies suggest that JAK2-driven inflammatory signaling and extracellular matrix remodeling may contribute to vascular wall injury, these mechanisms remain largely inferential and do not establish causality. Well-designed prospective investigations incorporating standardized imaging, uniform aneurysm definitions, and stratification by clonal burden and disease context will be necessary to better define risk and determine whether JAK2-associated clonal hematopoiesis has implications for vascular surveillance or prevention strategies.</p> Graphical abstract <p>Summary of the study design, key results, and conclusions. Created with assistance from OpenAI ChatGPT (DALL·E image generation tool); all scientific content was reviewed and verified by the authors.</p> <p></p>

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Association between JAK2 mutations and thoracic aortic aneurysms in myeloproliferative neoplasms

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月19日

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  • Mohamad Wajeh Dulli,
  • Ashraf Ahmed,
  • Mohammad Altermanini,
  • Rasha Kaddoura,
  • Abdulrahman F. Al-Mashdali,
  • Mohammed Abdulgayoom,
  • Yahia Imam,
  • Shehab F. Mohamed

摘要

The Janus kinase 2 (JAK2) V617F mutation is recognized as a defining molecular lesion in Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). This mutation was recognized in the context of clonal hematopoiesis of indeterminate potential, which has recently been linked with cardiovascular disease. Recent evidence has demonstrated a significant correlation between JAK2 mutations and thoracic aortic aneurysm (TAA) a condition frequently lacking identifiable risk factors. A scoping review, involving MEDLINE, Embase, Web of Science, Google Scholar, and prominent hematology and cardiology conference abstracts (from inception to August 2025) was performed. All studies that indicate a correlation between JAK2 mutations and aortic aneurysms were included. Seven studies with a total of 446,839 participants were found. Among these, 745 (0.17%) tested positive for JAK2. Data consistently indicated an elevated risk of thoracic aortic aneurysm (TAA), but not abdominal aortic aneurysm, in individuals with JAK2 mutations. Proposed mechanisms include inflammatory cytokine signaling, macrophage activation, and degradation of the extracellular matrix. Emerging clinical data indicate a consistent association between JAK2 V617F–mutated clonal hematopoiesis or myeloproliferative neoplasms and thoracic aortic aneurysm, with less consistent findings for abdominal aneurysm. Although experimental studies suggest that JAK2-driven inflammatory signaling and extracellular matrix remodeling may contribute to vascular wall injury, these mechanisms remain largely inferential and do not establish causality. Well-designed prospective investigations incorporating standardized imaging, uniform aneurysm definitions, and stratification by clonal burden and disease context will be necessary to better define risk and determine whether JAK2-associated clonal hematopoiesis has implications for vascular surveillance or prevention strategies.

Graphical abstract

Summary of the study design, key results, and conclusions. Created with assistance from OpenAI ChatGPT (DALL·E image generation tool); all scientific content was reviewed and verified by the authors.