JAK2 V617F Allele Burden in Polycythemia Vera: Burden of Proof

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2023 Feb 6

PMID 36745865

Authors

Alison R Moliterno

Hannah Kaizer

Brandi N Reeves

Affiliations

Soon will be listed here.

Abstract

Polycythemia vera (PV) is a hematopoietic stem cell neoplasm defined by activating somatic mutations in the JAK2 gene and characterized clinically by overproduction of red blood cells, platelets, and neutrophils; a significant burden of disease-specific symptoms; high rates of vascular events; and evolution to a myelofibrosis phase or acute leukemia. The JAK2V617F variant allele frequency (VAF) is a key determinant of outcomes in PV, including thrombosis and myelofibrotic progression. Here, we critically review the dynamic role of JAK2V617F mutation burden in the pathogenesis and natural history of PV, the suitability of JAK2V617F VAF as a diagnostic and prognostic biomarker, and the utility of JAK2V617F VAF reduction in PV treatment.

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