[Analysis of NPM1 gene mutations in acute myeloid leukemia].
OBJECTIVE
To evaluate the prevalence of nucleophosmin (NPM1) gene exon 12 mutations in adults with acute myeloid leukemia (AML) and its clinical characteristics.


METHODS
Genomic DNAs from 101 AML adults were screened by PCR and sequencing or capillary electrophoresis (CE) for NPMI mutations.


RESULTS
NPM1 exon 12 mutations were present in 31.7% of the overall cohort, including 1/1 (100%) of M0, 9/17(52.9%) of M1 , 7/25 (28.0%) of M2, 0/23(0%) of M3, 2/7 (28.6%) of M4 and 13/25 (52.0% ) of M5. NPM1 gene mutations were more prevalent in patients with normal karyotype (27/59, 45.8%) compared with that in those with karyotypic abnormalities (5/42, 11.9% ) (P < 0.001). NPM1 mutant cases were significantly associated with old age (P < 0.05), high peripheral white cell count (P < 0.05) and low expression of CD34 (P < 0.05) and CD17 (P<0.05). Sequence analysis of these NPM1 mutant cases revealed 5 known mutations (type A, B, D, N(M), and P(M)) and 1 novel variant (named as type S).


CONCLUSIONS
NPM1 exon 12 mutations occur with a considerable percentage in AML patients with normal karyotype, M1/M5 subtype and older age, and are associated with higher peripheral white cell count and lower expression of CD34 and CD117.
Yan
Ling-zhi
LZ
First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
Chen
Su-ning
SN
Liang
Jian-ying
JY
Feng
Yu-feng
YF
Cen
Jian-nong
JN
He
Jun
J
Chang
Wei-rong
WR
Zhu
Zi-ling
ZL
Pan
Jin-lan
JL
Wu
Ya-fang
YF
Xue
Yong-quan
YQ
Wu
De-pei
DP
D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin
C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin