Analysis of NPM1 Gene Mutations in Chinese Adults with Acute Myeloid Leukemia

  • Lingzhi Yan
  • Suning Chen
  • Jianying Liang
  • Yufeng Feng
  • Jiannong Cen
  • Jun He
  • Weirong Chang
  • Ziling Zhu
  • Jinlan Pan
  • Yafang Wu
  • Yongquan Xue
  • Depei Wu
Article

DOI: 10.1532/IJH97.A10620

Cite this article as:
Yan, L., Chen, S., Liang, J. et al. Int J Hematol (2007) 86: 143. doi:10.1532/IJH97.A10620

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, NM, and PM) 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.

Key words

NPM1 Gene Mutation Acute myeloid leukemia 

Copyright information

© The Japanese Society of Hematology 2007

Authors and Affiliations

  • Lingzhi Yan
    • 1
  • Suning Chen
    • 1
  • Jianying Liang
    • 1
  • Yufeng Feng
    • 1
  • Jiannong Cen
    • 1
  • Jun He
    • 1
  • Weirong Chang
    • 1
  • Ziling Zhu
    • 1
  • Jinlan Pan
    • 1
  • Yafang Wu
    • 1
  • Yongquan Xue
    • 1
  • Depei Wu
    • 1
  1. 1.Department of HematologyFirst Affiliated Hospital of Soochow UniversitySuzhouPeople’s Republic of China

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