Brandner, Sebastian; McAleenan, Alexandra; Jones, Hayley E; Kernohan, Ashleigh; Robinson, Tomos; Schmidt, Lena; Dawson, Sarah; Kelly, Claire; Leal, Emmelyn Spencer; Faulkner, Claire L; +6 more... Palmer, Abigail; Wragg, Christopher; Jefferies, Sarah; Vale, Luke; Higgins, Julian PT; Kurian, Kathreena M; (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). e12790. ISSN 0305-1846 DOI: https://doi.org/10.1111/nan.12790
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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 polymerase chain reaction (PCR)-based loss of heterozygosity (LOH) test methods were considered as reference standard. Most techniques (FISH, chromogenic in situ hybridisation [CISH], PCR, real-time PCR, multiplex ligation-dependent probe amplification [MLPA], single nucleotide polymorphism [SNP] array, comparative genomic hybridisation [CGH], array CGH, next-generation sequencing [NGS], 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, 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 healthcare organisations.
Item Type | Article |
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Faculty and Department | Faculty of Public Health and Policy > Dept of Health Services Research and Policy |
PubMed ID | 34958131 |
Elements ID | 212095 |
Official URL | http://dx.doi.org/10.1111/nan.12790 |
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Filename: Brandner-etal-2021-Diagnostic-accuracy-of-1p-19q-codeletion-tests-in-oligodendroglioma.pdf
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