JAK2V617F allele burden in polycythemia vera: burden of proof

被引：58

作者：

Moliterno, Alison R. ^{[1
]}

Kaizer, Hannah ^{[1
]}

Reeves, Brandi N. ^{[2
]}

机构：

[1] Johns Hopkins Univ, Dept Med, Div Hematol, Sch Med, Ross Res 1025,720 Rutland Ave, Baltimore, MD 21205 USA

[2] Univ North Carolina, Blood Res Ctr, Lineberger Comprehens Canc Ctr, Dept Med,Div Hematol, Chapel Hill, NC USA

来源：

BLOOD | 2023年 / 141卷 / 16期

基金：

美国国家卫生研究院;

关键词：

V617F SOMATIC MUTATION; HEMATOPOIETIC STEM; ESSENTIAL THROMBOCYTHEMIA; CLONAL HEMATOPOIESIS; MYELOPROLIFERATIVE NEOPLASMS; MOLECULAR RESPONSES; RUXOLITINIB; DISEASE; CELLS; RISK;

D O I：

10.1182/blood.2022017697

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 JAK2(V617F) 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 JAK2(V617F) mutation burden in the pathogenesis and natural history of PV, the suitability of JAK2(V617F) VAF as a diagnostic and prognostic biomarker, and the utility of JAK2(V617F) VAF reduction in PV treatment.

引用

页码：1934 / 1942

页数：9

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