JAK2 and MPL gene mutations in V617F-negative myeloproliferative neoplasms

被引：14

作者：

Siemiatkowska, Anna ^{[1
]}

Bieniaszewska, Maria ^{[2
]}

Hellmann, Andrzej ^{[2
]}

Limon, Janusz ^{[1
]}

机构：

[1] Med Univ Gdansk, Dept Biol & Genet, PL-80210 Gdansk, Poland

[2] Med Univ Gdansk, Dept Hematol & Transplantol, PL-80210 Gdansk, Poland

来源：

LEUKEMIA RESEARCH | 2010年 / 34卷 / 03期

关键词：

JAK2; mutations; MPL mutations; Polycythemia vera; Essential thrombocythemia; Idiopathic myelofibrosis; TYROSINE KINASE JAK2; POLYCYTHEMIA-VERA; ACTIVATING MUTATION; MYELOID METAPLASIA; DISORDERS; MYELOFIBROSIS; EXON-12;

D O I：

10.1016/j.leukres.2009.06.017

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We report three novel mutations in JAK2 exons 12, 19 and 25 in V617F-negative patients with polycythemia vera, essential thrombocythemia and idiopathic myelofibrosis. Scanning of JAK2 exons 12-25 and MPL exon 10 revealed the presence of JAK2 alterations in six and MPL W515L/K mutations in five of 34 patients with myeloproliferative disorders. Our results confirm that routine JAK2 analysis should include exon 12 mutations in polycythemia vera patients. MPL gene mutations seem to be associated with thrombocytosis, regardless of the type of myeloproliferative neoplasm. (C) 2009 Elsevier Ltd. All rights reserved.

引用

页码：387 / 389

页数：3

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