Table 3.
Predicted Sensitivity According to NGS
Predicted Sensitivity | Best Response | Arm | Tumor Location | PTCH1 | SMO | hTERT Promoter | Patient ID |
---|---|---|---|---|---|---|---|
under Vismodegib | (AF%) | (AF%) | (AF%) | ||||
S | PR | A | Extra | p.Leu744fs (95%) | WT | c.-124C>T (69%) | 3.1 |
CNS | p.Lys163* (73%) | WT | c.-124C>T (60%) | 3.7 | |||
C | CNS | p.Asn386fs (93%) | WT | c.-146C>T (61%) | 3.2 | ||
SD | A | Extra | p.Tyr446* (95%) | WT | c.-124C>T (52%) | 1.6 | |
C | Extra | p.Gln160* (82%) | WT | c.-124C>T (69%) | 2.3 | ||
Extra | p.Arg135* (95%) | WT | c.-124C>T (50%) | 3.5 | |||
Extra | p.Pro643fs (49%); c.-60 + 2-60 + 3insTT (43%) | WT | c.-124C>T (100%) | 5.2 | |||
PD | A | CNS | p.Tyr381fs (41%); p.Glu539fs (45%) | WT | c.-124C>T (63%) | 3.4 | |
B | CNS | p.Asp635fs (24%); p.Gln242fs (62%) | WT | c.-124C>T (49%) | 1.1 | ||
Extra | p.Arg770* (40%); p.Glu1095* (50%) | WT | NI | 3.3 | |||
C | CNS | p.Trp926* (95%) | WT | c.-124C>T (70%) | 1.3 | ||
R | PR | C | Extra | WT | p.Leu412Phe (44%) | c.-124C>T (56%) | 5.1 |
SD | A | Extra | WT | p.Leu412Phe (37%) | NI | 8.1 | |
PD | A | CNS | WT | WT | c.-124C>T (29%) | 1.7 | |
B | CNS | WT | WT | c.-124C>T (73%) | 8.2 | ||
C | Extra | WT | WT | c.-146C>T (67%) | 1.4 | ||
CNS | WT | p.Leu412Phe (25%) | c.-124C>T (60%) | 2.2 | |||
CNS | WT | WT | c.-146C>T (100%) | 3.6 | |||
UK | PR | A | CNS | WT | p.Gly416Asp (33%) | c.-124C>T (51%) | 1.2 |
CNS | WT | p.Ile408Val (17%); p.Ser278Ile (15%) | c.-124C>T (69%) | 1.5 | |||
SD | A | CNS | N/A | N/A | N/A | 9.1 | |
PD | A | Extra | N/A | N/A | N/A | 2.1 | |
B | CNS | p.Asp879fs (86%) | p.Ala524Pro (47%) | c.-124C>T (86%) | 2.4 | ||
CNS | N/A | N/A | N/A | 6.1 |
Abbreviations: AF%, allelic frequency; CNS, central nervous system; N/A, not available; NI, not informative; PD, progressive disease; PR, partial response; R, resistant; S, sensitive; SD, stable disease; WT, wild type.
*The protein coding sequence ends at a translation termination codon (stop codon).