Brandner, S;
McAleenan, A;
Jones, HE;
Kernohan, A;
Robinson, T;
Schmidt, L;
Dawson, S;
... Kurian, KM; + view all
(2022)
Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review.
Neuropathology and Applied Neurobiology
, 48
(4)
, Article e12790. 10.1111/nan.12790.
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Brandner_Neuropathology Appl Neurobio - 2022 - Brandner - Diagnostic accuracy of 1p 19q codeletion tests in oligodendroglioma A.pdf Download (4MB) | Preview |
Abstract
Codeletion of chromosomal arms 1p and 19q, in conjunction with a mutation in the isocitrate dehydrogenase 1 or 2 gene, is the molecular diagnostic criterion for oligodendroglioma, IDH-mutant and 1p/19q-codeleted. 1p/19q codeletion is a diagnostic marker and allows prognostication and prediction of the best drug response within IDH-mutant tumours. We performed a Cochrane review and simple economic analysis to establish the most sensitive, specific, and cost-effective techniques for determining 1p/19q codeletion status. Fluorescent in situ hybridisation (FISH) and PCR-based loss of heterozygosity (LOH) test methods were considered as reference standard. Most techniques (FISH, CISH, PCR, Real-time PCR, MLPA, SNP array, CGH, array CGH, next generation sequencing, mass spectrometry, and NanoString) showed good sensitivity (few false negatives) for detection of 1p/19q codeletions in glioma, irrespective of whether FISH or PCR-based LOH was used as the reference standard. Both NGS and SNP array had a high specificity (fewer false positives) for 1p/19q codeletion when considered against FISH as the reference standard. Our findings suggest that G-banding is not a suitable test for 1p/19q analysis. Within these limits considering cost per diagnosis, and using FISH as a reference, multiplex ligation probe amplification (MLPA) was marginally more cost-effective than other tests, although these economic analyses were limited by the range of available parameters, time horizon and data from multiple health care organisations.
| Type: | Article |
|---|---|
| Title: | Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta-analysis based on a Cochrane systematic review |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/nan.12790 |
| Publisher version: | https://doi.org/10.1111/nan.12790 |
| Language: | English |
| Additional information: | Copyright © 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | 1p/19q codeletion, Fluorescent in situ hybridisation, Oligodendroglioma, PCR, false positive, false-negative |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10141704 |
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