TY - JOUR
T1 - C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders
AU - Caudill, Jonathan S.C.
AU - Sternberg, Alexander J.
AU - Li, Chin Yang
AU - Tefferi, Ayalew
AU - Lasho, Terra L.
AU - Steensma, David P.
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
KW - Chronic myeloid disorders
KW - Chronic myelomonocytic leukaemia
KW - Nucleophosmin
KW - Somatic mutations
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U2 - 10.1111/j.1365-2141.2006.06081.x
DO - 10.1111/j.1365-2141.2006.06081.x
M3 - Article
C2 - 16704439
AN - SCOPUS:33646676726
VL - 133
SP - 638
EP - 641
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 6
ER -