Table 7.
Tumor site profiled | Total no. of alterations | BRAFV600E | TERT C228T | 9p21 loss | SMO D255N | ARID2 E108* | Other mutations |
---|---|---|---|---|---|---|---|
PDTC (RAI-positive primary) | 4 | X | X | X | X | None | |
ATC (RAI-negative pelvic lymph node) | 20 | X | X | X | X | X | RB1 X738_splice, SOX9 K398N, APC D1570N, CSF1R *973Sext*43, EPHA5 E657K, IDH1 R343K, JAK1 S397C, PTCH1 E1428Q, KMT2D E4781K, NCOA3 H618D, RAD54L E297K, NUP93 E19Q, CDK12 D962H, PBRM1 Q170E, ASXL1 S62C |
ATC, anaplastic thyroid carcinoma; PDTC, poorly differentiated thyroid carcinoma; RAI, radioactive iodine.