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

Hinrichs 2016.

Study characteristics
Patient Sampling Inclusion/exclusion criteria
Inclusion criteria: GBM‐O. Cases were selected from the 28 diagnosed cases (quote) "based on availability of tissue and diversity of clinical diagnostic markers".
Prior testing
Histopathological diagnosis using WHO 2007 classification. FISH for EGFR and 1p/19q. Immunohistochemistry for IDH1.
Patient characteristics and setting Number of participants/tumours with results for 1p/19q status by ≥ 2 DNA‐based tests: 8
Country: USA
Population source and setting: Emory University Hospitals, USA. 2007–2011
Age: mean: 55.0 years, standard deviation: 17.3 years
Gender: 75% male
Karnofsky performance status: NR
First diagnosis/recurrent disease: 87.5% (7/8) primary tumours, 12.5% (1/8) secondary tumours
Index tests 2 tests: FISH and SNP array
FISH
Tumour sample type: FFPE
Region(s) analysed: 1p36/1q25, 19p13/19q13 (Vysis LSI probe sets, Abbott Molecular). From Appin CL, Gao J, Chisolm C, Torian M, Alexis D, Vincentelli C, et al. Glioblastoma with oligodendroglioma component (GBM‐O): molecular genetic and clinical characteristics. Brain Pathology 2013;23:454‐61 (reference 2 in this study).
Cut‐off: quote: "1p and 19q deletions were considered present if ≥10% of cells contained the respective deletions". From Appin CL, Gao J, Chisolm C, Torian M, Alexis D, Vincentelli C, et al. Glioblastoma with oligodendroglioma component (GBM‐O): molecular genetic and clinical characteristics. Brain Pathology 2013;23:454‐61 (reference 2 in this study).
SNP array
Tumour sample type: FFPE
Region(s) analysed: genome wide
Cut‐off: segmented log2 ratio of −0.135 for losses and −0.45 for homozygous deletions
Additional details: quote: "Illumina HumanCytoSNP‐12v2.1‐FFPE SNP arrays … Data were processed and analyzed with BioDiscovery Nexus software (Hawthorne, CA) using SNPRank segmentation".
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  
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? No    
Was a case‐control design avoided? Unclear    
Did the study avoid inappropriate exclusions? Unclear    
Could the selection of patients have introduced bias?   High 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)
DOMAIN 2: Index Test (G‐banding)
DOMAIN 2: Index Test (FISH (variant 4))
DOMAIN 2: Index Test (SNP array)
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?   Low risk  
Are there concerns that the index test, its conduct, or interpretation differ from the review question?     Low concern
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