C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders

Jonathan S.C. Caudill, Alexander J. Sternberg, Chin Yang Li, Ayalew Tefferi, Terra L. Lasho, David P. Steensma

Research output: Contribution to journalArticlepeer-review

37 Scopus citations


C-terminal somatic mutations in nucleophosmin (NPM), a nucleolar shuttling protein that binds p53 and p19Arf, were recently described in karyotypically normal acute myeloid leukaemia (AML). We analysed primary marrow samples from 150 patients with various chronic myeloid disorders for mutations in the NPM1 gene encoding NPM. NPM1 mutations (tetranucleotide duplication) were detected in three patients, all of whom had chronic myelomonocytic leukaemia (CMML) and a short (<1 year) survival, with rapid progression to overt AML. All other patients were NPM1-wild type in the region analysed. In conclusion, C-terminal NPM mutations are uncommon in chronic myeloid neoplasia, but if present may represent an evolving leukaemic clone.

Original languageEnglish (US)
Pages (from-to)638-641
Number of pages4
JournalBritish journal of haematology
Issue number6
StatePublished - Jun 2006


  • Chronic myeloid disorders
  • Chronic myelomonocytic leukaemia
  • Nucleophosmin
  • Somatic mutations

ASJC Scopus subject areas

  • Hematology


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