[Detection and clinical significance of JAK2 mutation in 412 patients with chronic myeloproliferative neoplasms].
OBJECTIVE
To investigate the frequency of JAK2V617F mutation in Chinese patients with chronic myeloproliferative neoplasms (MPN) and to study the relationship between JAK2V617F mutation and clinical characteristics.


METHODS
JAK2V617F mutation was screened by allele-specific polymerase chain reaction (AS-PCR).


RESULTS
JAK2V617F mutation was detected in 277 of the 412 patients with MPN. The frequency of JAK2V617F mutation was similar among essential thrombocythemia (ET), idiopathic myelofibrosis (IMF) and chronic myeloproliferative disorders-unclassified (MPD-U) (P > 0.05), but it was significantly lower than that in polycythemia vera (PV) (P < 0.05). The presence of JAK2V617F was found to be significantly correlative with advanced age at diagnosis (P < 0.01) and with higher hemoglobin levels and higher leukocyte counts (P < 0.05). Significant difference was found in complication of vascular events between JAK2V617 positive and negative patients (P < 0.05). JAK2V617F positive MPD-U patients were more prone to progress into typical MPN compared with JAK2V617F negative MPD-U patients. The association between abnormal karyotype and JAK2V617F was not found in cytogenetical analysis of 301 patients.


CONCLUSIONS
The presence of JAK2V617F in MPD-U is associated with the disease development. There is a correlation between JAK2V617F mutation in MPN and advanced age, higher leukocyte counts, hemoglobin level and vascular events.
Chao
Hong-Ying
HY
The First Affiliated Hospital of Soochow University, Jiangsu Insititute of Hematology, Suzhou 215006, China.
Fan
Zheng
Z
Zhang
Ri
R
Shen
Yi-Min
YM
Chen
Wan
W
Fei
Hai-Rong
HR
Zhu
Zi-Ling
ZL
Feng
Yu-Feng
YF
Chen
Zi-Xing
ZX
Xue
Yong-Quan
YQ
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005500:Follow-Up Studies; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood / Q000150:complications / Q000235:genetics*; D011087:Polycythemia Vera / Q000097:blood / Q000150:complications / Q000235:genetics; D055728:Primary Myelofibrosis / Q000097:blood / Q000150:complications / Q000235:genetics; D013920:Thrombocythemia, Essential / Q000097:blood / Q000150:complications / Q000235:genetics; D013927:Thrombosis / Q000209:etiology; D055815:Young Adult
D006454:Hemoglobins; D053614:Janus Kinase 2