期刊
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
卷 48, 期 4, 页码 -出版社
WILEY
DOI: 10.1111/nan.12790
关键词
1p; 19q codeletion; false negative; false positive; fluorescent in situ hybridisation; oligodendroglioma; PCR
资金
- MRC-NIHR [MR/T044594/1]
- NIHR Bristol Biomedical Research Centre
- Cancer Research UK [C18281/A29019, C18281/A19169]
- National Institute for Health Research
- MRC [MR/T044594/1] Funding Source: UKRI
Codeletion of chromosomal arms 1p and 19q, together with the mutation in isocitrate dehydrogenase 1 or 2 gene, is the molecular diagnostic criterion for oligodendroglioma. Different techniques, including FISH and PCR-based LOH, showed good sensitivity for detecting 1p/19q codeletions in glioma. NGS and SNP array had high specificity when compared to FISH. MLPA was found to be marginally more cost-effective.
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.
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