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. Author manuscript; available in PMC: 2020 Dec 1.
Published in final edited form as: Surg Pathol Clin. 2019 Sep 27;12(4):921–930. doi: 10.1016/j.path.2019.08.002

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.