Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations

P. Gorello; G. Cazzaniga; F. Alberti; M. G. Dell'Oro; E. Gottardi; G. Specchia; G. Roti; R. Rosati; M. F. Martelli; D. Diverio; F. Lo Coco; A. Biondi; G. Saglio; C. Mecucci; B. Falini

doi:10.1038/sj.leu.2404149

Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations

P. Gorello, G. Cazzaniga, F. Alberti, M. G. Dell'Oro, E. Gottardi, G. Specchia, G. Roti, R. Rosati, M. F. Martelli, D. Diverio, F. Lo Coco, A. Biondi, G. Saglio, C. Mecucci, B. Falini

Fondazione Santa Lucia

Research output: Contribution to journal › Article › peer-review

Abstract

Mutation in exon 12 of the nucleophosmin (NPM1) gene occur in about 60% of adult AML with normal karyotype. By exploiting a specific feature of NPM1 mutants, that is insertion at residue 956 or deletion/insertion at residue 960, we developed highly sensitive, real-time quantitative (RQ) polymerase chain reaction (PCR) assays, either in DNA or RNA, that are specific for various NPM1 mutations. In all 13 AML patients carrying NPM1 mutations at diagnosis, cDNA RQ-PCR showed >30 000 copies of NPM1-mutated transcript. A small or no decrease in copies was observed in three patients showing partial or no response to induction therapy. The number of NPM1-mutated copies was markedly reduced in 10 patients achieving complete hematological remission (five cases:

Original language	English
Pages (from-to)	1103-1108
Number of pages	6
Journal	Leukemia
Volume	20
Issue number	6
DOIs	https://doi.org/10.1038/sj.leu.2404149
Publication status	Published - Jun 2006

Keywords

Acute myeloid leukemia
Minimal residual disease
Normal karyotype
NPM
Nucleophosmin
Quantitative polymerase chain reaction

ASJC Scopus subject areas

Hematology
Cancer Research

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10.1038/sj.leu.2404149

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Gorello, P., Cazzaniga, G., Alberti, F., Dell'Oro, M. G., Gottardi, E., Specchia, G., Roti, G., Rosati, R., Martelli, M. F., Diverio, D., Lo Coco, F., Biondi, A., Saglio, G., Mecucci, C., & Falini, B. (2006). Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations. Leukemia, 20(6), 1103-1108. https://doi.org/10.1038/sj.leu.2404149

Gorello, P, Cazzaniga, G, Alberti, F, Dell'Oro, MG, Gottardi, E, Specchia, G, Roti, G, Rosati, R, Martelli, MF, Diverio, D, Lo Coco, F, Biondi, A, Saglio, G, Mecucci, C & Falini, B 2006, 'Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations', Leukemia, vol. 20, no. 6, pp. 1103-1108. https://doi.org/10.1038/sj.leu.2404149

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abstract = "Mutation in exon 12 of the nucleophosmin (NPM1) gene occur in about 60% of adult AML with normal karyotype. By exploiting a specific feature of NPM1 mutants, that is insertion at residue 956 or deletion/insertion at residue 960, we developed highly sensitive, real-time quantitative (RQ) polymerase chain reaction (PCR) assays, either in DNA or RNA, that are specific for various NPM1 mutations. In all 13 AML patients carrying NPM1 mutations at diagnosis, cDNA RQ-PCR showed >30 000 copies of NPM1-mutated transcript. A small or no decrease in copies was observed in three patients showing partial or no response to induction therapy. The number of NPM1-mutated copies was markedly reduced in 10 patients achieving complete hematological remission (five cases: ",

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AU - Gottardi, E.

AU - Specchia, G.

AU - Roti, G.

AU - Rosati, R.

AU - Martelli, M. F.

AU - Diverio, D.

AU - Lo Coco, F.

AU - Biondi, A.

AU - Saglio, G.

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AU - Falini, B.

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Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations

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Keywords

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