Table 1.
Tumor | Major genetic alterations | Frequency | Reference |
---|---|---|---|
PTC | VEGF over expression RET/PTC rearrangements
BRAF fusion RAS mutations NTRK fusion |
79% variable depending on geographic region 60–70% of all rearrangements 20-30% of all positive cases <10% 40-50% 10% 20% (in pediatric population) |
(23) (17) (37) (30) |
FTC | VEGF over expression RAS mutations PAX8/PPARγ |
50% 40-50% 35% |
(23) (33), (37) (40) |
MTC |
RET point mutations RET M918T RAS (HRAS, KRAS or NRAS) |
Approximately 100% of hereditary form 50% of sporadic cases 85% of RET-mutated sporadic cases 18-80% of RET-negative sporadic form |
(4) |
ATC |
BRAF
V600E
RAS mutations PIK3CA PTEN Genes in PI3K/AKT/mTOR pathway TP53 NTRK fusion |
45% 24% 18% 10-15% 39% 50-80% rare |
(35) |
PDTC | VEGF over expression BRAF mutations BRAF V600E RAS mutations Genes in PI3K/AKT/mTOR pathway TP53 |
37% 81% 33% 28% 11% 8-35% |
(23) (35) |
AKT, alpha serine/threonine-protein kinase; ALK, anaplastic lymphoma kinase; ATC, anaplastic thyroid cancer; BRAF, rapidly accelerated fibrosarcoma kinase; DTC, differentiated thyroid cancer; FTC, follicular thyroid cancer; MTC, medullar thyroid cancer; NTRK, neurotrophic tyrosine receptor kinase; PAX8/PPARγ, paired box gene 8 / peroxisome proliferator-activated receptor γ; PDTC, poorly differentiated thyroid cancer; PTC, papillary thyroid cancer; PTEN, phosphatase and tensin homologous; RAS, rat sarcoma; RET, rearranged during transfection receptor; TP53, tumor protein P53; VEGF, vascular endothelial growth factor.