Table 3.
Sensitivity and specificity of each individual molecular test and combinations of tests. Number of evaluable cases and controls varies secondary to variable total DNA quantity and individual test quality control. Only specimens passing quality control measures included.
Molecular test | Endometrial cancer cases (N=38) | Benign endometrium controls (N=27) | ||||
---|---|---|---|---|---|---|
No. evaluated |
Sensitivity | No. evaluated |
False Positive | |||
No. (%) positive or present |
Exact 95% CI for sensitivity, % |
No. (%) positive or present |
Exact 95% CI for false positive rate, % |
|||
HOXA9 methylation, positive vs. negative | 37 | 14 (37.8%) | (22.5, 55.2) | 25 | 0 (0.0%) | (0.0, 13.7) |
RASSF1 methylation, positive vs. negative | 35 | 14 (40.0%) | (23.9, 57.9) | 22 | 0 (0.0%) | (0.0, 15.4) |
HTR1B methylation, positive vs. negative | 36 | 14 (38.9%) | (23.1, 56.5) | 20 | 0 (0%) | (0.0, 16.8) |
Copy number, present vs. absent | 14 | 5 (35.7%) | (12.8, 64.9) | 9 | 1 (11.1%) | (0.3, 48.3) |
Mutation, present vs. absent | 20 | 10 (50.0%) | (27.2, 72.8) | 18 | 3 (16.7%) | (3.6, 41.4) |
Methylation (positive for any gene) vs. all 3 tests negative | 35 | 21 (60.0%) | (42.1, 76.1) | 18 | 0 (0%) | (0, 18.5) |
Methylation (positive for any gene) OR copy number change present vs. all 4 tests negative or absent | 26 | 23 (88.5%) | (69.9, 97.6) | 8 | 1 (12.5%) | (0.3, 52.7) |
Methylation (positive for any gene) OR presence of any gene mutation vs. all 4 tests negative or absent | 30 | 25 (83.3%) | (65.3, 94.4) | 17 | 3 (17.7%) | (3.8, 43.4) |
Copy number change present OR presence of any gene mutation vs. both tests negative or absent | 18 | 13 (72.2%) | (46.5, 90.3) | 10 | 4 (40.0%) | (12.2, 73.8) |
Methylation (positive for any gene) OR copy number change present OR presence of any gene mutation vs. all 5 tests negative or absent | 28 | 27 (96.4%) | (81.7, 99.9) | 10 | 4 (40.0%) | (12.2, 73.8) |
Any positive/present vs. all negative/absent, based on the patients tested for all 5 tests | 12 | 11 (91.7%) | (61.5, 99.8) | 7 | 1 (14.3%) | (0.4, 57.9) |