Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype

Blood. 2005 Aug 15;106(4):1419-22. doi: 10.1182/blood-2005-03-0899. Epub 2005 May 3.

Abstract

Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumor-suppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1-mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Base Sequence
  • Child
  • Child, Preschool
  • Cytoplasm / chemistry
  • DNA Mutational Analysis
  • Exons
  • Female
  • Humans
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Nuclear Proteins / genetics*
  • Nucleophosmin

Substances

  • NPM1 protein, human
  • Nuclear Proteins
  • Nucleophosmin