JAK2 exon 12 mutations in cases with JAK2V617F-negative polycythemia vera and primary myelofibrosis

被引：14

作者：

Maddali, Madhavi ^{[1
]}

Kulkarni, Uday Prakash ^{[1
]}

Ravindra, Niveditha ^{[1
]}

Jajodia, Ekta ^{[1
]}

Arunachalam, Arun Kumar ^{[1
]}

Suresh, Hemamalini ^{[1
]}

Venkatraman, Arvind ^{[1
]}

George, Biju ^{[1
]}

Mathews, Vikram ^{[1
]}

Balasubramanian, Poonkuzhali ^{[1
]}

机构：

[1] Christian Med Coll & Hosp, Dept Hematol, Vellore, Tamil Nadu, India

来源：

ANNALS OF HEMATOLOGY | 2020年 / 99卷 / 05期

关键词：

JAK2; exon; 12; Erythrocytosis; PMF; MYELOPROLIFERATIVE NEOPLASMS; SOMATIC MUTATIONS; MPL MUTATIONS;

D O I：

10.1007/s00277-020-04004-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Molecular detection of JAK2 mutation (V617F or exon 12) is included as a major diagnostic criterion for polycythemia vera (PV) by the WHO 2016 guidelines. JAK2 exon 12 mutations are seen in about 2-5% of JAK2V617F-negative cases of PV. Mutations in JAK2 cause constitutive activation of JAK-STAT pathway which results in variable phenotypes. PV patients with exon 12 mutations in JAK2 present characteristically with erythrocytosis. There are limited reports describing the spectrum of JAK2 exon12 mutations in myeloproliferative neoplasms (MPNs). Here, we describe the characteristics of a series of MPN patients with mutations in exon 12 of JAK2 of which two were novel variants associated with polycythemia. Interestingly, we noted two patients presenting as myelofibrosis having JAK2 exon 12 mutations.

引用

页码：983 / 989

页数：7