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

2.50
Hdl Handle:
http://hdl.handle.net/10146/42462
Title:
Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors.
Authors:
Jeuken, Judith; Cornelissen, Sandra; Boots-Sprenger, Sandra; Gijsen, Sabine; Wesseling, Pieter
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
Issue Date:
Sep-2006
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.
Appears in Collections:
Articles with annotation

Full metadata record

DC FieldValue Language
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.en
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

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