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C‐terminal nucleophosmin mutations are uncommon in chronic myeloid disorders
Author(s) -
Caudill Jonathan S. C.,
Sternberg Alexander J.,
Li ChinYang,
Tefferi Ayalew,
Lasho Terra L.,
Steensma David P.
Publication year - 2006
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06081.x
Subject(s) - nucleophosmin , npm1 , myeloid , chronic myelomonocytic leukemia , cancer research , mutation , clone (java method) , gene duplication , medicine , gene , somatic cell , gene mutation , biology , bone marrow , myeloid leukemia , karyotype , immunology , myelodysplastic syndromes , genetics , chromosome
Summary 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.