[The quantitative assay and clinical significance of JAK2V617F mutation in 131 patients with chronic myeloproliferative disorders].
OBJECTIVE
To investigate the frequency and mutational status of JAK2V617F mutation in Chinese patients with chronic myeloproliferative disorders (CMPD) and to study the relative quantification of mutated JAK2 mRNA and the clinical significance.


METHODS
JAK2V617F mutation and the mutational status were screened with amplification-refractory mutation system polymerase chain reaction (ARMS-PCR), the relative quantification of mutated JAK2 mRNA was studied by using capillary electrophoresis.


RESULTS
A higher prevalence of JAK2V617F in either the heterozygote or homozygote status in essential thrombocythemia (ET) was observed in elderly patients with ET (P < 0.05). The presence of JAK2V617F was found to be significantly correlated with the age at diagnosis (P < 0.05); patients with age > or = 60 years showed significantly higher JAK2 mutated RNA levels than those with age < 60 years (P < 0.05); the presence of JAK2V617F in polycythemia vera (PV) and ET was found to be significantly associated with higher hemoglobin level and higher leukocyte count (P < 0.05). In addition, higher leukocyte count was observed in homozygous ET patients than in heterozygous ET patients (P < 0.05). The frequency of JAK2V617F mutation and the prevalence of homozygote in PV patients were higher than those in ET patients (P < 0.05). The differences of JAK2V617F mRNA levels among PV, ET and chronic idiopathic myelofibrosis (IMF) were not significant.


CONCLUSIONS
ARMS-PCR technique can be used to detect the frequency and mutational status of JAK2V617F mutation owing to its sensitivity and along with capillary electrophoresis, quantitative assay for mutated JAK2 mRNA, diagnosis of CMPD and judgement of prognosis become possible.
Shen
Yi-Min
YM
The First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China. symsjx@sohu.com
Chao
Hong-Ying
HY
Zhang
Ri
R
Feng
Yu-Feng
YF
Cen
Jian-Nong
JN
Yao
Li
L
Shen
Hong-Jie
HJ
Zhu
Zi-Ling
ZL
Xue
Yong-Quan
YQ
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002908:Chronic Disease; D019075:Electrophoresis, Capillary; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods
C507924:JAK2 protein, human; D053614:Janus Kinase 2