Prevalence of the JAK2-V617F mutation in Taiwanese patients with chronic myeloproliferative disorders.
BACKGROUND
The Janus kinase-2 (JAK-2) V617F mutation has been recently reported in patients with myeloproliferative disorders (MPD), which is believed to underlie growth factor hypersensitivity displayed by haematopoietic progenitors in these disorders. However, its frequency has been rarely determined in Taiwanese patients.


METHODS
The frequency of JAK2-V617F mutation in patients with polycythaemia vera, essential thrombocythaemia and idiopathic myelofibrosis (IMF) was determined in the DNA from the peripheral blood leucocytes of 108 patients by genomic polymerase chain reaction and restriction enzyme-based assay.


RESULTS
The JAK2-V617F mutation could be detected in 28 of 33 polycythaemia vera patients (85%), 29 of 49 essential thrombocythaemia patients (59%) and 2 of 6 IMF patients (33%), but was not detected in 11 patients with myelodysplastic syndrome or another 10 with other haematological diseases. The presence of the JAK2 mutation was associated with specific MPD disease subtypes (P = 0.007), longer disease duration (P = 0.005), splenomegaly (P = 0.019), a higher white blood cell count (P = 0.002) and a higher haemoglobin level (P = 0.036). However, the overall risk of thrombosis or bleeding was not affected by the presence of the JAK2 mutation (32 vs 17%; P = 0.22).


CONCLUSIONS
The JAK2-V617F mutation can be frequently detected in the Taiwanese patients with MPD disorders and therefore should be incorporated into the initial evaluation of patients suspected of MPD.
Lieu
C-H
CH
Department of Biotechnology and Laboratory Science in Medicine, School of Biomedical Science and Engineering, National Yang-Ming University, Taiwan. hchsu@vghtpe.gov.tw
Wu
H-S
HS
Hon
Y-C
YC
Tsai
W-H
WH
Yang
C-F
CF
Wang
C-C
CC
Lin
Y-C
YC
Shih
C-H
CH
Hsu
H-C
HC
D000368:Aged; D004247:DNA / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007124:Immunoenzyme Techniques; D015994:Incidence; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013624:Taiwan / Q000453:epidemiology
D004247:DNA; C507924:JAK2 protein, human; D053614:Janus Kinase 2