The JAK2 exon 12 mutations: A comprehensive review

被引：111

作者：

Scott, Linda M. ^{[1
,2
,3
]}

机构：

[1] Univ Texas Hlth Sci Ctr San Antonio, Greehey Childrens Canc Res Inst, San Antonio, TX 78229 USA

[2] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, San Antonio, TX 78229 USA

[3] Univ Texas Hlth Sci Ctr San Antonio, Canc Therapy & Res Ctr, San Antonio, TX 78229 USA

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2011年 / 86卷 / 08期

关键词：

TYROSINE KINASE JAK2; LEUKEMIA FUSES BCR; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; V617F MUTATION; ALLELE BURDEN; CONFERS SUSCEPTIBILITY; DIAGNOSTIC-CRITERIA; ACTIVATING MUTATION; MPL MUTATIONS;

D O I：

10.1002/ajh.22063

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A variety of acquired mutations targeting JAK2 exon 12 are present in those patients with the myeloproliferative neoplasm, polycythemia vera, that lack the more common JAK2V617F mutation. Both mutation types perturb erythropoiesis, with individuals presenting with a raised hematocrit, reduced serum erythropoietin levels, and erythropoietin-independent erythroid progenitor cells. However, there are also phenotypic differences that, until recently, precluded a significant proportion of patients with a JAK2 exon 12 mutation from receiving an appropriate diagnosis. Here, we review the literature published on the JAK2 exon 12 mutations and compare the biology associated with these mutations with that of JAK2V617F. Am. J. Hematol. 86: 668-676, 2011. (C) 2011 Wiley-Liss, Inc.

引用

页码：668 / 676

页数：9

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