Diagnostic accuracy of 1p/19q codeletion tests in oligodendroglioma: A comprehensive meta‐analysis based on a Cochrane systematic review

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.

Identification of a cellular senescence-related-lncRNA (SRlncRNA) signature to predict the overall survival of glioma patients and the tumor immune microenvironment

“…(Louis et al, 2021) AGAP2-AS1 could be promising predictive biomarker and therapeutic target for HER-2+ breast cancer patients (Han et al, 2021), and AGAP2-AS1 regulated the proliferation and migration of pancreatic cancer partly through suppressing ANKRD1 and ANGPTL4 (Hui et al, 2019). (Brandner et al, 2022) HOXD-AS2 Frontiers in Genetics frontiersin.org could promote glioblastoma cell proliferation, migration and invasion by regulating the miR-3681-5p/MALT1 signaling pathway (Zhong and Cai, 2021), (Xu et al, 2022) TENT4A indirectly regulatesRAD18 via the tumor suppressor CYLD and via PAXIP1-AS2 in endometrial cancer (Swain et al, 2021).…”

“…Four different families are divided: 1) Adult-type diffuse gliomas; 2) Pediatric-type diffuse low-grade gliomas; 3) Pediatric-type diffuse high-grade gliomas; and 4) Circumscribed astrocytic gliomas. On the other hand, adult-type diffuse gliomas include only three types: Astrocytoma, IDH-mutant; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted; and Glioblastoma, IDH-wildtype; The latest edition of WHO Classification of Central Nervous System Neoplasm will be the first of its kind Genotypes were included in the diagnosis of glioma, in which isocitrate dehydrogenase was included Genes (isocitrate dehydrogenase, IDH) and chromosomes 1p/19q is the core basis of glioma molecular typing, according to IDH mutation Histologically similar diffuse gliomas are divided into different subgroups Type I, while the 1p/19q joint deletion in IDH mutant oligodendrocyte fine The significance of neoplasms is gaining recognition, and this new typing method can Better judgment of prognosis, accurate guidance of treatment (Brandner et al, 2022;Xu et al, 2022). Despite advances in different therapies, such as surgery, radiation, and chemotherapy, in many instances, these glioma patients' overall survival rates have declined.…”

Molecular neuropathology: an essential and evolving toolbox for the diagnosis and clinical management of central nervous system tumors

“…For diagnosing IDH-mutant, 1p/19q-codeleted tumors, a critical hallmark is the presence of whole-arm 1p/19q codeletion which can be investigated by multiple assays and FISH is commonly used [ 44 ]. However, due to the limited targeting of single loci by the FISH probes, false positive results are possible, especially in presence of tumors with complex karyotypes [ 45 , 46 ].…”

Comprehensive clinical assays for molecular diagnostics of gliomas: the current state and future prospects

“…1p/19q -codeletion is a chromosomal alteration that is described in oligodendrogliomas ( Figure 1 ). It is a complete deletion of the short arm of chromosome 1 ( 1p ) and the long arm of chromosome 19 ( 19q ) ( Brandner et al, 2022 ). Loss of 1p and 19q is an early event in oligodendroglioma tumorigenesis ( Pinkham et al, 2015 ) and could be a result of an unbalanced whole-arm translocation between chromosomes 1 and 19 with the loss of the resulting hybrid chromosome ( Griffin et al, 2006 ; Jenkins et al, 2006 ).…”