1. Analysis of NPM1 gene mutations in Chinese adults with acute myeloid leukemia.
- Author
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Yan, Lingzhi, Chen, Suning, Liang, Jianying, Feng, Yufeng, Cen, Jiannong, He, Jun, Chang, Weirong, Zhu, Ziling, Pan, Jinlan, Wu, Yafang, Xue, Yongquan, and Wu, Depei
- Subjects
ANTIGEN analysis ,AGE distribution ,ASIANS ,CHROMOSOME abnormalities ,COMPARATIVE studies ,KARYOTYPES ,RESEARCH methodology ,MEDICAL cooperation ,MOLECULAR epidemiology ,GENETIC mutation ,RESEARCH ,TRANSFERASES ,EVALUATION research ,MYELOID leukemia ,DISEASE prevalence ,NUCLEAR proteins ,LEUKOCYTE count ,SEQUENCE analysis - Abstract
Many European groups have recently described that mutations at exon-12 of the nucleophosmin (NPM1) gene are the most frequent genetic lesion in patients with acute myeloid leukemia (AML), especially in the presence of a normal karyotype. This study explored the prevalence and clinical profile of NPM1 mutations in a cohort of 156 Chinese adults with AML. NPM1 exon-12 mutations were detected using direct sequencing or fragment analysis of genomic DNA polymerase chain reaction products. NPM1 mutations were present in 28.2% of the overall population, including 1/1 (100%) of M0, 11/27 (40.7%) of M1, 11/46 (23.9%) of M2, 0/29 (0%) of M3, 2/9 (22.2%) of M4, 18/39 (46.2%) of M5, and 1/5 (20.0%) of M6. NPM1 gene mutations were more prevalent in patients with a normal karyotype (37 of 90; 41.1%) when compared with patients with karyotypic abnormalities (7 of 66; 10.6%;P < .001). Sequence analysis of 25 NPM1-mutated cases revealed known mutations (type A, D, N(M), and P(M)) as well as one novel sequence variation (here named as type S). All mutational types were heterozygous and showed a 4 bp insertion. NPM1 mutations were significantly associated with old age (P < .05), high peripheral white blood cell count (P < .05), and the subtypes of French-American-British categories M1/M5, but negatively associated with expression of CD34 (P < .05) and CD117 (P < .05). Thus, this study provides the methods of NPM1 exon-12 mutations detection and related clinical data of NPM1 mutated cases in a Chinese population. [ABSTRACT FROM AUTHOR]
- Published
- 2007
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