Table 2.
Summary of Accuracy for Key BIOMECA Tests Under Evaluation Stratified by Center and Test Type. BIOMECA Tests With Equivocal or No Result Removed From Calculation. For Gain of Chromosome 1q Only Partial Chromosomal Gains Included in Analysis—Cases With Whole Chromosome Excluded as Known to Only be Detectable With MIP. Test Accuracy Calculated by True Positives and True Negatives Divided by All Test Results. Confidence Intervals Calculated Via the Exact Binomial Approach.
| Parameter | Criterion Standard (CS) | BIOMECA Test | Center | Positive CS and BIOMECA test (N) | Positive CS/ Negative BIOMECA test (N) | Sensitivity (95% CI) | Negative CS and BIOMECA test (N) | Negative CS and Positive BIOMECA test (N) | Specificity (95% CI) | No result (BIOMECA test) (N) | BIOMECA Accuracy (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| PFA Diagnosis in confirmed PF ependymoma | MA | H3K27me3 IHC | Austria | 94 | 1 | 99.0 (94.3–100) | 10 | 0 | 100 (69.2–100) |
1 | 99.1 |
| Germany | 94 | 0 | 100 (96.2–100) | 8 | 0 | 100 (63.2–100) |
4 | 100 | |||
| UK | 94 | 1 | 99.0 (94.3–100) | 9 | 1 | 90.0 (55.5–99.8) | 1 | 98.1 | |||
| TNC IHC | Austria | 94 | 2 | 97.9 (92.7–99.8) | 6 | 4 | 60 (26.2–87.9) | 0 | 94.3 | ||
| France | 88 | 8 | 91.7 (84.2–96.3) | 7 | 3 | 70 (34.8–93.3) | 0 | 89.6 | |||
| Chromosome 1q Gain across all molecular diagnoses | MA | 1q FISH | UK | 9 | 6 | 60.0 (32.3–83.7 | 93 | 4 | 95.9 (89.8–98.9) | 17 | 91.1 |
| France | 15 | 3 | 83.3 (58.6–96.4) | 67 | 12 | 84.8 (75.0–91.9) | 32 | 84.5 | |||
| MLPA | UK | 18 | 1 | 94.7 (74–99.9) | 109 | 0 | 100 (96.7–100) | 1 | 99.2 | ||
| MIP | Germany | 18 | 1 | 94.7 (74–99.9) |
110 | 0 | 100 (96.7–100) | 0 | 99.2 | ||
| Diagnosis of ST EPN with gene fusions with RELA | MA plus targeted profiling for RELA | p65 IHC | Germany | 18 | 0 | 100 (81.5–100) | 6 | 0 | 100 (54.1–100) | 1 | 100 |
| France | 16 | 2 | 88.9 (65.6–98.6) | 6 | 1 | 85.7 (42.1–99.6) | 0 | 88 |
CS, Criterion Standard; MA, DNA Methylation Array; PF, Posterior Fossa; ST, Supratentorial; IHC, Immunohistochemistry; FISH, Fluorescent In Situ Hybridization; CI, Confidence Interval.