Yan Ling-zhi, Chen Su-ning, Liang Jian-ying, Feng Yu-feng, Cen Jian-nong, He Jun, Chang Wei-rong, Zhu Zi-ling, Pan Jin-lan, Wu Ya-fang, Xue Yong-quan, Wu De-pei
First Affiliated Hospital of Soochow University, Jiangsu Institute of Hematology, Suzhou 215006, China.
Zhonghua Xue Ye Xue Za Zhi. 2007 May;28(5):289-93.
To evaluate the prevalence of nucleophosmin (NPM1) gene exon 12 mutations in adults with acute myeloid leukemia (AML) and its clinical characteristics.
Genomic DNAs from 101 AML adults were screened by PCR and sequencing or capillary electrophoresis (CE) for NPMI mutations.
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).
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.
评估急性髓系白血病（AML）成人患者中核磷蛋白（NPM1）基因第12外显子突变的发生率及其临床特征。
采用聚合酶链反应（PCR）及测序或毛细管电泳（CE）技术，对101例AML成人患者的基因组DNA进行NPMI突变筛查。
在整个队列中，31.7%的患者存在NPM1第12外显子突变，其中M0型1/1（100%）、M1型9/17（52.9%）、M2型7/25（28.0%）、M3型0/23（0%）、M4型2/7（28.6%）、M5型13/25（52.0%）。与核型异常患者（5/42，11.9%）相比，核型正常患者中NPM1基因突变更为常见（27/59，45.8%）（P<0.001）。NPM1突变病例与老年（P<0.05）、外周血白细胞计数高（P<0.05）以及CD34（P<0.05）和CD117（P<0.05）低表达显著相关。对这些NPM1突变病例的序列分析显示有5种已知突变（A、B、D、N（M）和P（M）型）和1种新变异（命名为S型）。
NPM1第12外显子突变在核型正常、M1/M5亚型及老年AML患者中发生率较高，且与外周血白细胞计数较高及CD34和CD117低表达相关。
