[Study of nucleophosmin (NPM) gene mutation in patients with acute myeloid leukemia and myelodysplastic syndromes].
OBJECTIVE
To investigate nucleophosmin (NPM) gene mutations in patients with de novo acute myeloid leukemia (AML) with normal cytogenetics and primary myelodysplastic syndromes (MDS).


METHODS
Genomic DNA corresponding to exon 12 of NPM gene was amplified by polymerase chain reaction (PCR) in 40 AML patients (28 case untreated and 12 in first remission) and 33 MDS patients. The PCR products were purified and screened by direct sequencing, the mutation PCR products were cloned into pUCm-T vector and then transfected into E. coil DH5alpha. At least 5 recombinant colonies were selected, and plasmid DNA were prepared and sequenced.


RESULTS
NPM mutations were found in 6 patients (4 newly diagnosed AML and 2 MDS): 4 were type A,1 type B, and 1 novel sequence variant ( named as type R).


CONCLUSIONS
A new type of NPM mutation was found, and NPM mutations in MDS patients were demonstrated for the first time. The results provides new hints for NPM gene mutations in the pathogenesis of AML and MDS.
Zhang
Yue
Y
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, CAMS and PUMC, Tianjin 300020, China.
Zhang
Mei-Rong
MR
Yang
Lin
L
Xiao
Zhi-Jian
ZJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin
C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin