Format

Send to

Choose Destination
See comment in PubMed Commons below
J Mol Diagn. 2008 May;10(3):236-41. doi: 10.2353/jmoldx.2008.070167. Epub 2008 Apr 10.

A new DNA-based test for detection of nucleophosmin exon 12 mutations by capillary electrophoresis.

Author information

  • 1Associated Regional and University Pathologists (ARUP) Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, UT 84108, USA. philippe.szankasi@aruplab.com

Abstract

Mutations in nucleophosmin (NPM1) exon 12 are thought to be the most common genetic event in acute myelogenous leukemia (AML) and to confer favorable clinical prognoses. In this report, we describe a simple molecular test for the detection of NPM1 exon 12 mutations in patients with AML using polymerase chain reaction amplification of genomic DNA followed by the analysis of amplification products by capillary electrophoresis. Mutations were reproducibly detected when present in at least 5% of cells, and all NPM1 exon 12 mutations reported to date in AML could be identified using this method. This method was successfully employed using paraffin-extracted DNA, allowing for the examination of archived clinical specimens, and the assay was validated by the direct sequencing of 33 patient samples. This sensitive test is straightforward to perform and provides important information that can influence both the clinical management and treatment options for many patients with AML.

PMID:
18403605
PMCID:
PMC2329788
DOI:
10.2353/jmoldx.2008.070167
[PubMed - indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science Icon for PubMed Central
    Loading ...
    Support Center