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Table 8. Genomic Changes and Combinations of Events
Associated With DTC
Papillary
Carcinoma
Mutations:
• BRAFV600E
• RAS
• BRAF (Non V600E)
Fusions:
• BRAF, RET, ALK, NTRK 1/3
Other:
• 1q gain, 22q loss
Mutations:
• TERT promoter (C228T/C250T)
• TP53, RBM10, CDKN2B,
PIK3CA, PLEKSH1p, AKT1
Other:
• CDKN2A and CDKN2B loss
• Increased APOBEC activity
• Global DNA hypomethylation
Follicular
Carcinoma
Mutations:
• RAS
• DICER1, EIF1AX, PTEN,
GNAS
• BRAF (Non V600E)
Fusions:
• PPARγ, THADA
Other:
• 7q gain, 22q loss
Mutations:
• TERT promoter (C228T/C250T)
• TP53, RB1, RBM10
• CCNE1
Other:
• CDKN2A and CDKN2B loss
• Global DNA hypomethylation
Oncocytic
Carcinoma
Mutations:
• Mitochondrial DNA
• RAS, DAXX, ARHGGAP35,
APC, FAT11, CDKN1A
• PTEN, GNAS
Fusions:
• PRKAB1, VPRREB3, PANX1
Other:
• Chromosomal loss, near
haploid with or without
genome wide duplication
Mutations:
• TERT promoter (C228T/C250T)
• TP53, FAT1, AGAp2, MTOR,
AKT2, MT2C
• KEAP1, TBX3, CDKN1B, NF1,
PDGFRA, CD274
• JAK2
Other:
• CDKN2A and CDKN2B loss
Early Genomic Changes
Events in Combination With
Early Changes Associated
With Progression
