Park 2019.
| Study characteristics | |||
| Patient Sampling |
Inclusion/exclusion criteria Inclusion criteria: oligodendroglial tumours (oligodendroglioma or anaplastic oligodendroglioma) with 1p/19q FISH results available Prior testing Presumably histopathological diagnosis, although not explicitly stated. FISH |
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| Patient characteristics and setting |
Number of participants/tumours with results for 1p/19q status by ≥ 2 DNA‐based tests: 20 Country: Republic of Korea Population source and setting: Asan Medical Center, Seoul, Korea. January 2015 to December 2016 Age: mean: 51.7 years, standard deviation: 11.6 years Gender: 45% male Karnofsky performance status: NR First diagnosis/recurrent disease: NR |
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| Index tests |
2 tests: FISH and NGS FISH Tumour sample type: FFPE Region(s) analysed: 1p36 and 19q13 (Vysis, Downers Grove, Illinois, USA) Cut‐off: combined target‐to‐control signal ratio < 0.75 or cut‐off of a nucleus with a 1 or 0 target signal > 50%. NGS Tumour sample type: FFPE Region(s) analysed: whole genome. 1p and 19q specific: chr1:1‐ 125000000 and chr19:26500001‐59128983 Cut‐off: quote: "The targeted NGS panel did not cover the whole chromosome; therefore, chromosome 1p deletion and 19q deletion were defined as complete segmental loss covered by NGS panel within chr1:1‐ 125000000 and chr19:26500001‐59128983, respectively, based on the hg19 human reference genome. Partial segmental loss within regions was classified as negative". CNV plots obtained using the log 2 ratio were reviewed manually by 2 pathologists. Additional details: "MiSeq (Illumina, Inc., San Diego, CA, USA) with OncoPanel AMCv3 (OP‐AMCv3, developed in‐house by Asan‐CCGD) to include the exons of 199 genes (575,147 bp) and partial introns from 8 genes often rearranged in cancer (209,397 bp) to detect fusion genes and additional small (10,534 bp) specific single nucleotide polymorphism loci for CNV analysis. Overall, the panel covered 823,971 bp". |
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| Target condition and reference standard(s) | Target condition was absolute 1p/19q deletion. FISH used as reference standard in some of our analyses. | ||
| Flow and timing | We presumed that all tests were performed on biopsied tumour material collected on 1 occasion. | ||
| Comparative | |||
| Notes | |||
| Methodological quality | |||
| Item | Authors' judgement | Risk of bias | Applicability concerns |
| DOMAIN 1: Patient Selection | |||
| Was a consecutive or random sample of patients enrolled? | Unclear | ||
| Was a case‐control design avoided? | Yes | ||
| Did the study avoid inappropriate exclusions? | Yes | ||
| Could the selection of patients have introduced bias? | Unclear risk | ||
| Are there concerns that the included patients and setting do not match the review question? | High | ||
| DOMAIN 2: Index Test (NanoString) | |||
| DOMAIN 2: Index Test (aCGH) | |||
| DOMAIN 2: Index Test (NGS) | |||
| If a threshold was used, was it pre‐specified? | Yes | ||
| Were the index test results interpreted without knowledge of the results of the other tests being compared? | Unclear | ||
| Could the conduct or interpretation of the index test have introduced bias? | Unclear risk | ||
| Are there concerns that the index test, its conduct, or interpretation differ from the review question? | Low concern | ||
| DOMAIN 2: Index Test (G‐banding) | |||
| DOMAIN 2: Index Test (FISH (variant 4)) | |||
| DOMAIN 2: Index Test (SNP array) | |||
| DOMAIN 2: Index Test (PCR (with comparison to normal DNA)) | |||
| DOMAIN 2: Index Test (PCR (without comparison to normal DNA)) | |||
| DOMAIN 2: Index Test (CISH) | |||
| DOMAIN 2: Index Test (MS) | |||
| DOMAIN 2: Index Test (RFLP) | |||
| DOMAIN 2: Index Test (PCR‐based LOH) | |||
| DOMAIN 2: Index Test (NGS or aCGH (or both)) | |||
| DOMAIN 2: Index Test (Methylation array) | |||
| DOMAIN 2: Index Test (FISH) | |||
| If a threshold was used, was it pre‐specified? | Yes | ||
| Were the index test results interpreted without knowledge of the results of the other tests being compared? | Yes | ||
| Could the conduct or interpretation of the index test have introduced bias? | Low risk | ||
| Are there concerns that the index test, its conduct, or interpretation differ from the review question? | Low concern | ||
| DOMAIN 2: Index Test (FISH (variant 1)) | |||
| DOMAIN 2: Index Test (FISH (variant 2)) | |||
| DOMAIN 2: Index Test (FISH (variant 3)) | |||
| DOMAIN 2: Index Test (Real‐time PCR) | |||
| DOMAIN 2: Index Test (MLPA) | |||
| DOMAIN 2: Index Test (CGH) | |||
| DOMAIN 3: Reference Standard | |||
| Is the reference standards likely to correctly classify the target condition? | No | ||
| Could the reference standard, its conduct, or its interpretation have introduced bias? | High risk | ||
| Are there concerns that the target condition as defined by the reference standard does not match the question? | Low concern | ||
| DOMAIN 4: Flow and Timing | |||
| Was there an appropriate interval between index test and reference standard? | Yes | ||
| Were all patients included in the analysis? | Yes | ||
| Could the patient flow have introduced bias? | Low risk | ||