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- Title
C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders.
- Authors
Caudill, Jonathan S. C.; Sternberg, Alexander J.; Li, Chin-Yang; Tefferi, Ayalew; Lasho, Terra L.; Steensma, David P.
- Abstract
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.
- Subjects
BLOOD diseases; BONE marrow diseases; MYELOID leukemia; ANTIBODY diversity; HEMATOPOIETIC system; NONLYMPHOID leukemia; DISEASES
- Publication
British Journal of Haematology, 2006, Vol 133, Issue 6, p638
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/j.1365-2141.2006.06081.x