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| Item Type: | Article |
|---|---|
| Title: | Detection of mutant NPM1 mRNA in acute myeloid leukemia using custom gene expression arrays |
| Creators Name: | van Vliet, Martin H., Dumee, Belinda, Simons, Erik, Bullinger, Lars, Döhner, Konstanze, Döhner, Hartmut, Viëtor, Henk, Löwenberg, Bob, Valk, Peter J.M. and van Beers, Erik H. |
| Abstract: | Mutations in the gene encoding nucleophosmin (NPM1) carry a prognostic value for patients with acute myeloid leukemia (AML). Various techniques are currently being used to detect these mutations in routine molecular diagnostics. Incorporation of accurate NPM1 mutation detection on a gene expression platform would enable simultaneous detection with various other expression biomarkers. Here we present an array-based mutation detection using custom probes for NPM1 WT mRNA and NPM1 type A, B, and D mutant mRNA. This method was 100% accurate on a training cohort of 505 newly diagnosed unselected AML cases. Validation on an independent cohort of 143 normal-karyotype AML cases revealed no false-negative results, and one false positive (sensitivity 100.0% and specificity 98.7%). Based on this, we conclude that this method provides a reliable method for NPM1 mutation detection. The method can be applied to other genes/mutations as long as the mutant alleles are sufficiently highly expressed. |
| Keywords: | Acute Myeloid Leukemia, Algorithms, Alleles, DNA Probes, Gene Expression, Messenger RNA, Mutation, Nuclear Proteins, Nucleophosmin, Oligonucleotide Array Sequence Analysis, Prognosis, Sensitivity and Specificity |
| Source: | Genetic Testing and Molecular Biomarkers |
| ISSN: | 1945-0265 |
| Publisher: | Mary Ann Liebert |
| Volume: | 17 |
| Number: | 4 |
| Page Range: | 295-300 |
| Date: | April 2013 |
| Additional Information: | Copyright 2013, Mary Ann Liebert, Inc. |
| Official Publication: | https://doi.org/10.1089/gtmb.2012.0344 |
| External Fulltext: | View full text on external repository or document server |
| PubMed: | View item in PubMed |
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