Table 3.
Comparison of key results in present and previously published studies.
| Study | Sample Size n (%) |
Mutation Frequency (%) |
Benign Disease n (%) |
NIFTPs/WDT-UMPs n (%) |
Malignancy n (%) |
A113_Splice Site Mutation (%) |
Nodules with ≥1 Additional Molecular Alterations (%) |
Co-Existing Genetic Mutations Present |
Nodules with Concurrent RAS (%) |
Nodules with Concurrent TP53 (%) |
|---|---|---|---|---|---|---|---|---|---|---|
|
Current study Sensitivity Specificity PPV |
42 (5.5) | 5.5 | 16 (38.1) | 6 (14.3) | 20 (47.6) | 40.5 57.2 76.2 70.6 |
26.2 53.4 81.8 77.8 |
TP53, NRAS, PIK3CA, TERT, HRAS, GNAS |
11.9 23.8 100 100 |
7.14 9.5 95.2 66.7 |
|
Elsherbini et al., 2022 [24] PPV |
31 (5) | 5 | 17 (55) | 2 (6.5) | 12 (38.7) | 48.4 53 |
22.6 85.7 |
NRAS, HRAS, TP53, TERT, PIK3CA |
12.9 100 |
9.7 66.7 |
|
Karslioglu et al., 2022 [25] PPV |
31 (5) | - | 17 (55) | 2 (6) | 12 (39) | 45 33.3 |
48 80 |
- | - | - |
|
Gargano et al., 2021 [26] * PPV |
26 (4.5) | 4.5 | 6 (23) | 3 (11.5) | 17 (65.4) | 65.4 85 |
57.7 93 |
KRAS, NRAS, TERT, HRAS, TP53, YWHAG-BRAF |
46.2 91.7 |
7.7 100 |
|
Karunamurthy et al., 2016 [13] * PPV |
11 (4.2) | 4.2 | 7 (63.6) | 0 | 4 (36.4) | 54.5 83.3 |
27.3 100 |
NRAS, TP53, TERT | 27.3 100 |
9.1 100 |
* Studies comprised surgically resected and non-resected EIF1AX-mutated nodules; however, only those with a postoperative histopathology report were included. Sensitivity and specificity analyses from previously published studies were not publicly available. PPV: positive predictive value; n: total number of cases.