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    Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors.

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    Authors
    Jeuken, Judith
    Cornelissen, Sandra
    Boots-Sprenger, Sandra
    Gijsen, Sabine
    Wesseling, Pieter
    Issue Date
    2006-09
    
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    Abstract
    Genetic aberrations in tumors are predictive for chemosensitivity and survival. A test is needed that allows simultaneous detection of multiple changes and that is widely applicable in a routine diagnostic setting. Multiplex ligation-dependent probe amplification (MLPA) allows detection of DNA copy number changes of up to 45 loci in one relatively simple, semiquantitative polymerase chain reaction-based assay. To assess the applicability of MLPA, we performed MLPA analysis to detect relevant genetic markers in a spectrum of 88 gliomas. The vast majority of these tumors (n = 79) were previously characterized by comparative genomic hybridization. With MLPA kit P088 (78 cases), complete and partial loss of 1p and 19q were reliably identified, even in samples containing only 50% tumor DNA. Distinct 1p deletions exist with different clinically prognostic consequences, and in contrast to the commonly used diagnostic strategies (loss of heterozygosity or fluorescent in situ hybridization 1p36), P088 allows detection of such distinct 1p losses. Combining P088 with P105 will further increase the accurate prediction of clinical behavior because this kit identified markers (EGFR, PTEN, and CDKN2A) of high-grade malignancy in 41 cases analyzed. We conclude that MLPA is a reliable diagnostic tool for simultaneous identification of different region-specific genetic aberrations of tumors.
    Citation
    J. Mol. Diagn. 2006, 8 (4):433-443
    Journal
    The Journal of Molecular Diagnostics : JMD
    URI
    http://hdl.handle.net/10146/42462
    PubMed ID
    16931583
    Additional Links
    http://jmd.amjpathol.org/cgi/content/full/8/4/433
    http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16931583
    Type
    Article
    Language
    en
    Description
    Biomarkers of exposure & effect: validation Biomarker: Exposure/effect represented: Analytical technicque: Sensitivity (LOD): Specificity: Accuracy: Repeatability (intralaboratory repeatability): Reproducibility (intralaboratory repeatability): Stability in stored sample: High-throughput automation: Notes:
    ISSN
    1525-1578
    Sponsors
    Supported by the Dutch Cancer Society (Konigin Wihelmina Fonds: Katholic University Nijmegen 2004-3143) and the Pauline van Everdingen Foundation.
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