Analysis of NPM1 gene mutations in acute myeloid leukemia.
- Author:
Ling-zhi YAN
1
;
Su-ning CHEN
;
Jian-ying LIANG
;
Yu-feng FENG
;
Jian-nong CEN
;
Jun HE
;
Wei-rong CHANG
;
Zi-ling ZHU
;
Jin-lan PAN
;
Ya-fang WU
;
Yong-quan XUE
;
De-pei WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; DNA Mutational Analysis; Exons; Female; Humans; Leukemia, Myeloid, Acute; genetics; Male; Middle Aged; Mutation; Nuclear Proteins; genetics
- From: Chinese Journal of Hematology 2007;28(5):289-293
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo evaluate the prevalence of nucleophosmin (NPM1) gene exon 12 mutations in adults with acute myeloid leukemia (AML) and its clinical characteristics.
METHODSGenomic DNAs from 101 AML adults were screened by PCR and sequencing or capillary electrophoresis (CE) for NPMI mutations.
RESULTSNPM1 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).
CONCLUSIONSNPM1 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.
