[Detection of JAK2V617F mutation and its clinical significance in 80 patients with M2 acute myelogenous leukemia].
OBJECTIVE
To explore the prevalence and prognostic significance of JAK2V617F gene mutation in acute myelogenous leukemia M2 (AML-M2) patients.


METHODS
Allele specific polymerase chain reaction (PCR) was used to detect JAK2 gene mutation.


RESULTS
Of 80 de novo AML-M2 patients, 6 at the time of first diagnosis and 1 at relapse were found to have JAK2V617F gene mutation (8.8%, 7/80). Morphologically, the whole blood and bone marrow of the 7 AML-M2 patients with JAK2V617F gene mutation presented a picture of acute leukemia instead of myeloproliferative disorders. Immunophenotypically, bone marrow samples showed myelogenous linage expression. Complete remission was obtained in 4 of 5 AML-M2 patients with JAK2V617F mutation who received treatment, while one patient had no response to the treatment. Follow-up was performed in all the 5 patients, with a median survival of 18.5 months in 4 patients.


CONCLUSIONS
JAK2V617F gene mutation, as a type-1 mutation, might not be an initial event in the pathogenesis of acute myelogenous leukemia, and its presentation does not mean a poor prognosis in de novo AML patients.
Shen
Yi-min
YM
Department of Hematology, First Affiliated Hospital of Soochow University, Jiangsu Insititute of Hematology, Suzhou 215006, China. symsjx@sohu.com
Chao
Hong-ying
HY
Zhang
Ri
R
Li
Wei-yang
WY
Feng
Yu-feng
YF
Zhu
Zi-ling
ZL
Xue
Yong-quan
YQ
D000293:Adolescent; D000328:Adult; D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012074:Remission Induction; D015996:Survival Rate; D055815:Young Adult
D004273:DNA, Neoplasm; C507924:JAK2 protein, human; D053614:Janus Kinase 2