Table 1.
Key molecular alterations in thyroid carcinoma
| Tumor types | Common molecular alterations | Uncommon molecular alterations |
|---|---|---|
| PTC |
BRAF (62%), predominantly BRAFV600E RAS (13%) RET-PTC (7%) TERT promoter mutation (9%) |
E1F1AX ALK fusion NTRK1 or NTRK3 fusion |
| Encapsulated FVPTC and NIFTP |
RAS (30–52%) PAX8-PPARγ(0–38%) THADA fusion (0–22%) |
BRAFK601E (3–7%) Absence of BRAFV600E |
| FTC |
RAS (49%) PAX8-PPARγ(30–58%) TERT promoter mutation 17% |
TSHR mutations BRAFK601E E1F1AX |
| HCC | Widespread chromosomal losses Alteration of mitochondrial genome RAS (9–15%) TERT promoter mutation (22–27%) TP53 mutation (7–12%) |
CHCHD10-VPREB3 HEPHL1-PANX1 TMEM233-PRKAB1 |
| PDTC |
BRAF 33% RAS 45% TERT promoter mutation (40%) TP53 mutation (10%) |
|
| ATC |
BRAF 29% RAS 23% TERT promoter mutation (73%) TP53 mutation (59%) |
Tumor suppressors: ATM, RB1, MEN1, NF1, and NF2 Mutation affecting PIK3CA-AKT-mTOR pathway, mismatch repair genes, SWI-SNF complex, and histone methyltransferase pathway |
| MTC |
RET (40–60%) RAS (up to 20%) |
MET ALK fusion |
FVPTC: follicular variant of papillary thyroid carcinoma, NIFTP: noninvasive follicular thyroid neoplasm with papillary-like nuclear features, PTC: papillary thyroid carcinoma, FTC: follicular thyroid carcinoma, HCC: Hürthle cell carcinoma, PDTC: poorly differentiated thyroid carcinoma, ATC: anaplastic thyroid carcinoma, MTC: medullary thyroid carcinoma.