期刊
BRITISH JOURNAL OF HAEMATOLOGY
卷 133, 期 6, 页码 638-641出版社
WILEY
DOI: 10.1111/j.1365-2141.2006.06081.x
关键词
nucleophosmin; chronic myeloid disorders; chronic myelomonocytic leukaemia; somatic mutations
类别
资金
- NCI NIH HHS [K12 CA090628] Funding Source: Medline
C-terminal somatic mutations in nucleophosmin (NPM), a nucleolar shuttling protein that binds p53 and p19(Arf), 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.
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