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. 2022 Mar 2;2022(3):CD013387. doi: 10.1002/14651858.CD013387.pub2

Na 2019.

Study characteristics
Patient Sampling Inclusion/exclusion criteria
Inclusion criteria: FFPE specimens of primary diffuse glioma
Prior testing
Histopathological diagnosis according to WHO 2016 classification and the update series of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy‐Not Official WHO (cIMPACT‐NOW). Quote: "Ancillary tests used in initial diagnosis included IDH1 (R132H), p53, and ATRX immunostaining and fluorescence in situ hybridization (FISH)‐based detection of 1p/19q‐codeletion. Select cases were immunostained by BRAF (VE1) or by paired set of H3.3K27M and H3K27me3 (midline location). After diagnosis, most representative FFPE specimens were tested for TERT mutation, MGMT methylation, and analyzed by NGS".
Patient characteristics and setting Number of participants/tumours with results for 1p/19q status by ≥ 2 DNA‐based tests: 135
Country: Republic of Korea
Population source and setting: Severance Hospital, Republic of Korea. March 2017 to May 2018
Agea: mean: 51.0 years, standard deviation: 16.3 years
Gender: 59.3% male
Karnofsky performance status: NR
First diagnosis/recurrent disease: unclear. Described as "primary" diffuse gliomas.
aThere are 5 participants aged < 18 years in this analysis. We have not excluded them as we are unable to link their individual patient data to the 1p/19q result for all of the tumours.
Index tests 2 tests: FISH and NGS
FISH
Tumour sample type: FFPE
Region(s) analysed: 1p36/1q25, 19q13/19p13 (Vysis, Abbott Molecular, Illinois, USA)
Cut‐off: deletion was defined as signal ratios of > 50% for region of interest to control probe.
NGS
Tumour sample type: FFPE
Region(s) analysed: 1p: NRAS, MYCL1; 19q: ERCC1, ERCC2, AKT2
Cut‐off: quote: "The genes with lower than 0.7‐fold change relative to average levels were considered to exhibit significant copy number loss".
Additional details: Illumina TruSight Tumor 170 (TST‐170) panel
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 both tests were performed on the same sample for each case.
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?     Low concern
DOMAIN 2: Index Test (NanoString)
DOMAIN 2: Index Test (aCGH)
DOMAIN 2: Index Test (NGS)
If a threshold was used, was it pre‐specified? Unclear    
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?   High 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