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

doi:10.1111/j.1365-2141.2006.06081.x

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

Hematology

Research output: Contribution to journal › Article

35 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	638-641
Number of pages	4
Journal	British journal of haematology
Volume	133
Issue number	6
DOIs	https://doi.org/10.1111/j.1365-2141.2006.06081.x
State	Published - Jun 2006

Keywords

Chronic myeloid disorders
Chronic myelomonocytic leukaemia
Nucleophosmin
Somatic mutations

ASJC Scopus subject areas

Hematology

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Caudill, J. S. C., Sternberg, A. J., Li, C. Y., Tefferi, A., Lasho, T. L., & Steensma, D. P. (2006). C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders. British journal of haematology, 133(6), 638-641. https://doi.org/10.1111/j.1365-2141.2006.06081.x

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title = "C-terminal nucleophosmin mutations are uncommon in chronic myeloid disorders",

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.",

keywords = "Chronic myeloid disorders, Chronic myelomonocytic leukaemia, Nucleophosmin, Somatic mutations",

author = "Caudill, {Jonathan S.C.} and Sternberg, {Alexander J.} and Li, {Chin Yang} and Ayalew Tefferi and Lasho, {Terra L.} and Steensma, {David P.}",

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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

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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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