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<p>A chronic myeloproliferative neoplasm characterized by trilineage proliferation (erythroid, granulocytic, and megakaryocytic) is called polycythaemia vera. Causing substantial morbidity because of thrombotic and haemorrhagic consequences. The detection of the <i>JAK2</i> V617F variant, which is seen in around 95% of patients and in a smaller proportion of cases that had <i>JAK2</i> exon 12 alterations, was a significant finding in the pathophysiology of PV. The <i>JAK-STAT</i> signalling system is constitutively activated by these variants, leading to unchecked hematopoietic stem cell proliferation. The historical context and developing knowledge of PV are described in this review, with a focus on the clinical and diagnostic significance of <i>JAK2</i> variants as well as other contributing variants such as <i>CALR</i>,<i> MPL</i>, and <i>LNK</i>. We provide an overview of the molecular environment, the pathophysiological processes, and the role of allele burden. Advances in molecular diagnostics have improved risk stratification and WHO categorization standards. Newer treatment modalities like <i>JAK</i> inhibitors like ruxolitinib. We also address research gaps and future approaches in PV care have shown promising result in treating PV.</p>

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Polycythaemia Vera and JAK2 Variant: A Molecular Perspective on Diagnosis and Management

  • 期刊论文

  • 发表日期：

    2026年4月28日

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  • Jayanta Deb,
  • Sanjana Goswami,
  • Bhupati Ranjan Reang,
  • Saurabh Gupta

摘要

A chronic myeloproliferative neoplasm characterized by trilineage proliferation (erythroid, granulocytic, and megakaryocytic) is called polycythaemia vera. Causing substantial morbidity because of thrombotic and haemorrhagic consequences. The detection of the JAK2 V617F variant, which is seen in around 95% of patients and in a smaller proportion of cases that had JAK2 exon 12 alterations, was a significant finding in the pathophysiology of PV. The JAK-STAT signalling system is constitutively activated by these variants, leading to unchecked hematopoietic stem cell proliferation. The historical context and developing knowledge of PV are described in this review, with a focus on the clinical and diagnostic significance of JAK2 variants as well as other contributing variants such as CALR, MPL, and LNK. We provide an overview of the molecular environment, the pathophysiological processes, and the role of allele burden. Advances in molecular diagnostics have improved risk stratification and WHO categorization standards. Newer treatment modalities like JAK inhibitors like ruxolitinib. We also address research gaps and future approaches in PV care have shown promising result in treating PV.