Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders

被引：31

作者：

Basquiera, Ana L. ^{[2
]}

Soria, Nestor W. ^{[1
]}

Ryser, Ricardo ^{[3
]}

Salguero, Miriam ^{[4
]}

Moiraghi, Beatriz ^{[5
]}

Sackmann, Federico ^{[6
]}

Sturich, Ana G. ^{[2
]}

Borello, Adriana ^{[2
]}

Berretta, Adriana ^{[2
]}

Bonafe, Miriam ^{[1
]}

Moreno Barral, Jose ^{[1
]}

Palazzo, Emilio D. ^{[2
]}

Garcia, Juan J. ^{[2
]}

机构：

[1] Univ Nacl Cordoba, Fac Ciencias Med, Catedra Bioquim & Biol Mol, RA-5016 Cordoba, Argentina

[2] Hosp Privado, Ctr Med Cordoba, Cordoba, Argentina

[3] Hosp Espanol, Cordoba, Argentina

[4] Clin Velez Sarsfield, Cordoba, Argentina

[5] Hosp Ramos Mejia, Buenos Aires, DF, Argentina

[6] FUNDALEU, Buenos Aires, DF, Argentina

来源：

HEMATOLOGY | 2009年 / 14卷 / 06期

关键词：

JAK2; myeloproliferative disorders; thrombosis; survival; acute leukaemia; TYROSINE KINASE MUTATION; POLYCYTHEMIA-VERA; ESSENTIAL THROMBOCYTHEMIA; MYELOID METAPLASIA; EXON-12; MUTATIONS; RISK; MYELOFIBROSIS; PREVALENCE; EXPRESSION; THROMBOSIS;

D O I：

10.1179/102453309X12473408860226

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Materials and methods: Detection of JAK2 V617F mutation by allele specific-PCR. Results: One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV. Conclusions: We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.

引用

页码：323 / 330

页数：8

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