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dc.contributor.authorJeuken, Judith
dc.contributor.authorCornelissen, Sandra
dc.contributor.authorBoots-Sprenger, Sandra
dc.contributor.authorGijsen, Sabine
dc.contributor.authorWesseling, Pieter
dc.date.accessioned2008-12-17T13:17:03Z
dc.date.available2008-12-17T13:17:03Z
dc.date.issued2006-09
dc.identifier.citationJ. Mol. Diagn. 2006, 8 (4):433-443en
dc.identifier.issn1525-1578
dc.identifier.pmid16931583
dc.identifier.urihttp://hdl.handle.net/10146/42462
dc.descriptionBiomarkers 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:en
dc.description.abstractGenetic 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.
dc.description.sponsorshipSupported by the Dutch Cancer Society (Konigin Wihelmina Fonds: Katholic University Nijmegen 2004-3143) and the Pauline van Everdingen Foundation.en
dc.language.isoenen
dc.relation.urlhttp://jmd.amjpathol.org/cgi/content/full/8/4/433en
dc.relation.urlhttp://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16931583en
dc.subject.meshChromosome Aberrations
dc.subject.meshChromosomes, Human, Pair 1
dc.subject.meshChromosomes, Human, Pair 19
dc.subject.meshGenetic Markers
dc.subject.meshGlioma
dc.subject.meshHumans
dc.subject.meshNucleic Acid Amplification Techniques
dc.subject.meshNucleic Acid Hybridization
dc.subject.meshReagent Kits, Diagnostic
dc.subject.meshReproducibility of Results
dc.subject.meshSensitivity and Specificity
dc.titleMultiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors.en
dc.typeArticleen
dc.identifier.journalThe Journal of Molecular Diagnostics : JMDen
refterms.dateFOA2018-12-17T17:31:11Z
html.description.abstractGenetic 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.


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