Table 1.
Case | Sex | Age (Year) | Cytologic Diagnosis (Bethesda Score) |
Histopathologic Diagnosis | Nodule Size (cm) | Co-Existing Mutation(s) | Type of EIF1AX Mutation | EIF1AX Mutation AF (%) | Co-Existing Mutation(s) AF (%) | Aggressive Feature |
---|---|---|---|---|---|---|---|---|---|---|
1 | F | 60 | 4 | FA | 0.9 | - | A113_splice site | 15 | - | - |
2 | F | 69 | 3 | NG | 1.8 | - | R13L | 38 | - | - |
3 | F | 55 | 3 | AN | 0.8 | - | A113_splice site | 8 | - | - |
4 | F | 55 | 3 | FA | 1.4 | - | G9V | 28 | - | - |
5 | F | 62 | 3 | AN | 1.5 | TP53 | G15D | 2 | 9 | - |
6 | F | 63 | 3 | FA | 1.5 | - | G9R | 28 | - | - |
7 | F | 58 | 3 | FHN | 1 | - | A113_splice site | 36 | - | - |
8 | M | 66 | 3 | AN | 1.8 | - | A113_splice site | 59 | - | - |
9 | F | 70 | 3 | FA | 2.6 | CNAs | G9R | 27 | - | - |
10 | F | 46 | 3 | FA | 3 | - | N11_E20dup | 14 | - | - |
11 | F | 82 | 3 | FHN | - | - | G6V | 12 | - | - |
12 | M | 43 | 3 | FA | 5 | - | A113_splice site | 14 | - | - |
13 | F | 68 | 3 | HCA | 1 | - | G124L | 14 | - | - |
14 | F | 78 | 3 | HCA | 3.4 | - | K10_N11insKPSGKGGK | 10 | - | - |
15 | F | 85 | 4 | FHN | - | - | G9R | 40 | - | - |
16 | M | 52 | 3 | AN | 4 | - | G8E | 62 | - | - |
17 | F | 72 | 3 | FVPTC | 1.3 | NRAS | R13P | 11 | 10 | - |
18 | F | 75 | 4 | PDTC | 2.5 | - | A113_splice site | 12 | - | PDTC |
19 | F | 68 | 3 | HCC | 3 | TP53 | A113_splice site | 30 | 45 | 40% component PDTC |
20 | F | 88 | 3 | IFVPTC | 2.8 | - | G9V | 22 | - | - |
21 | F | 51 | 4 | IFVPTC | 1.8 | NRAS | G9D | 26 | 23 | - |
22 | F | 77 | 4 | OVPTC | 0.6 | - | A113_splice site | 18 | - | - |
23 | F | 75 | 4 | PDTC | 3.5 | - | A113_splice site | 19 | - | PDTC |
24 | F | 44 | 4 | EFVPTC | 3.9 | - | A113_splice site | 24 | - | Positive SLNB |
25 | F | 77 | 3 | HCC | 4 | PIK3CA, TERT | N17_K23dup | 11 | 16, 16 | - |
26 | F | 45 | 3 | PTC | 0.55 | - | A113_splice site | 6 | - | - |
27 | M | 60 | 4 | HCC | - | TP53, NRAS, CNAs | A113_splice site | 57 | 40, 7 | 30% component PDTC |
28 | M | 74 | 4 | EFVPTC | 5 | HRAS, GEAs | A113_splice site | 32 | 19 | 10% component PDTC |
29 | F | 58 | 4 | PTC | 2 | - | A113_splice site | 37 | - | - |
30 | F | 44 | 3 | PMTC | 0.3 | - | G8R | 17 | - | - |
31 | M | 33 | 3 | EFVPTC | 5 | HRAS | A113_splice site | 61 | 29 | - |
32 | F | 77 | 3 | OVPTC | 3.5 | - | A113_splice site | 20 | - | - |
33 | M | 55 | 3 | PMTC | 0.3 | - | G5V | 23 | - | - |
34 | F | 49 | 3 | EFVPTC | 2 | - | A113_splice site | 32 | - | - |
35 | F | 64 | 4 | FVPTC | - | CNAs | G8V | 29 | - | - |
36 | F | 66 | 3 | PMTC | 0.1 | - | R13P | 15 | - | - |
37 | M | 58 | 3 | WDT-UMP | 3.2 | - | K16E | 29 | - | - |
38 | F | 48 | 3 | NIFTP | 1.3 | - | G9D | 15 | - | - |
39 | F | 46 | 3 | WDT-UMP | 2.5 | - | G9D | 10 | - | - |
40 | F | 26 | 4 | WDT-UMP | 2.1 | GNAS | G15D | 11 | 10 | - |
41 | F | 66 | 5 | NIFTP | 2 | - | R13H | 29 | - | - |
42 | F | 68 | 3 | NIFTP | 0.7 | G9V | 31 | - | - |
Cases 1–16: Benign nodules; Cases 17–36: Malignant nodules; Cases 37–42: NIFTPs/WDT-UMPs. FA: Follicular adenoma; NG: Nodular goiter; AN: Adenomatoid nodule; FHN: Follicular hyperplastic nodule; HCA: Hurthle cell adenoma; FVPTC: Follicular variant of papillary thyroid carcinoma; PDTC: Poorly differentiated thyroid carcinoma; HCC: Hurthle cell carcinoma; IFVPTC: Infiltrative FVPTC; OVPTC: Oncocytic variant of papillary thyroid carcinoma; EFVPTC: Encapsulated FVPTC; microMTC: Medullary thyroid microcarcinoma; PTC: Papillary thyroid carcinoma; PMTC: Papillary thyroid microcarcinoma; WDT-UMP: Well-differentiated thyroid neoplasms of uncertain malignant potential; NIFTP: Non-invasive follicular thyroid neoplasm with papillary-like nuclear features; SLNB: Sentinel lymph node biopsy.