Table 3.
Summary of mutations in patient’s tumor, patient-derived xenograft, and cell lines
| Patient tumor | PDX | Cell linea | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| PDX name | Cell line name (RRID No.) | Platform used for patient tumor | BRAF | TP53 | Other mutations | BRAF (VAF %) | TP53 (VAF %) | Other mutations | BRAF (VAF %) | TP53 (VAF %) | Other mutations (VAF %) |
| MDA-ATC1 | MDA-T187 (CVCL_A1CS) | IHC | V600E | WT | None | V600E (57)a | K132N (5)a | None | V600E (94) | K132N (100) | None |
| MDA-ATC2 | NA | IHC, liquid biopsy | WT | T253Pc | None | WT | c. 376-1G → Ab,e | None | NA | NA | NA |
| MDA-ATC3 | NA | 50-Gene somatic mutation analysis | V600Ed | D208Vd | CDKN2A_E88*d | V600Eb1 | D208Vb,e | CDKN2A_E88*b,f | NA | NA | NA |
| MDA-ATC4 | MDA-T248 (CVCL_A1CT) | Solid tumor genomics assay | V600Ec,d | R280Tc | CDKN2A_D74Nc,d | V600Eb,e | R280Tb,e | CDKN2A_D74Nb,e | V600E (59) | c.994-1G > C (96) | CDKN2A_D74N (100) |
| MDA-ATC5 | MDA-T269 (CVCL_A1CU) | Solid tumor genomics assay | WT | WT | pTERT-124C > Td, HRAS_G13Rd | WT | WT | pTERT-124C > Tb,f, HRAS_G13Rb,f | WT | WT | pTERT-124C > Tb,fHRAS_G13Rb,f |
| MDA-ATC6 | MDA-T273 (CVCL_A1CV) | Solid tumor genomics assay, liquid biopsy | WT | G244fs*d, c.783-1G > Td, R175Hc | pTERT-124C > Td, KRAS_G12Rd, NF2_E317* d, NFE2L2_D27Yd | WT | R175Hb,e | pTERT-124C > Tb2, KRAS_G12Rb,eNFE2L2_D27Yb,e | WT | R175H (100) | pTERT-124C > Tb,f, KRAS_G12R (100), NFE2L2_D27Y (100) |
Abbreviations: ATC, anaplastic thyroid cancer; IHC, immunohistochemistry; NA, not available; PDX, patient-derived xenograft; VAF, variant allele frequency; WT, wild-type.
a Mutation detected by whole-exome sequencing.
b Mutation detected by Sanger sequencing.
c Mutation detected in cell-free DNA.
d Mutation detected by next-generation sequencing.
e Homozygous mutation.
f Heterozygous mutation.