Table 3.
Molecular profile in follicular variant of papillary thyroid carcinoma (FVPTC, The Cancer Genomic Atlas TCGA cohort, data retrieved from cBioPortal(1)), noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), Hurthle cell carcinoma (HCC), Hurthle cell adenoma (HCA) and O-NI-EFVPTC.
| FVPTC (n=99, TCGA) (1, 2) | NIFTP (n=27, Nikiforov) (3) | NIFTP (n=32, Johnson) (4) | HCC (n=27, Ganly) (5) | HCC (n=56, Ganly) (6) | HCA (n=8) (5) | O-NI-EFVPTC Current study (n=15) | |
|---|---|---|---|---|---|---|---|
| Mutations | |||||||
| NRAS | 25% | 19% | 34% | 11% | 9% | 0 | 13% |
| HRAS | 10% | 7% | 19% | 0 | 0 | 0 | 7% |
| KRAS | 2% | 4% | 9% | 0 | 0 | 0 | 13% |
| BRAF K601E | 2% | 3% | 3% | 0 | 0 | 0 | 7% |
| Total RAS/BRAF K601E | 39% | 33% | 66% | 11% | 9% | 0 | 40% |
| Fusions | |||||||
|
RET (4%) THADA (3%) BRAF (3%) PPARγ (1%) MET (1%) NTRK3 (1%) |
PPARγ (22%) THADA (22%) |
NA | PPARγ (0) |
PPARγ (0) THADA (0) CHCHD10-VPREB3 (13%) HEPHL1-PANX1 (9%) TMEM233-PRKAB1 (9%) |
None | None | |
| Copy number alterations | |||||||
| NA for FVPTC PTC: 1q gain (15%) 22q loss (10%) High frequency of focal gains/losses (2.4%) Copy number quiet (73%) |
NA | NA | Gain: 4p, 5p, 6p, 7p, 8p, 10p, 12p, 16q Loss: 4q, 6p, 7p, 9q, 12q, 16q |
Gain: 1q, 2q, 3q, 5p, 7p, 10q, 12q, 14q, 20p, Xp. WCD of chr 5, 7, 12 in widely invasive HCC Loss: 1q, 2q, 3q, 4q, 7q, 9q, 10q, 11p, 15q, 16q, 17q. Global UPD in widely invasive HCC. |
NA | Gain: 4, 5, 9, 10, 12, 16, 17, 18, 20, 21. WCD chr 7. Loss: 2p, 9, 21, 22 |
|
| Mitochondria DNA | |||||||
| NA | NA | NA | NA | 71% with nonsilent mutations, including 37% of frameshift or nonsense mutations | NA | 67% with nonsilent mutations, including 27% of frameshift or nonsense mutations | |
NA: not available, UPD: uniparental disomy, WCD: whole chromosome duplication.