Table 2.
Case | Tumor type | Detected mutation | AF | Method | IHC result | IHC source | Possible explanations |
---|---|---|---|---|---|---|---|
C1454 | MBOT | p.V216L | 0.31 | SureSelect panel | Normal | TMA (then full) | IARC: missense Clinvar: likely pathogenic False negative normal IHC |
C1961 | MOC | p.Q375* | 0.37 | SureSelect panel | Normal | TMA (then full) | Late truncating mutation expressing nonfunctional protein as false negative normal IHC |
C1981 | MOC | p.R156H | 0.36 | SureSelect panel | Normal | TMA (then full) | IARC: missence Clinvar: VUS |
15404 | MOC | NMD | NA | Exome | Abnormal OE90 | Full | Clear IHC signal: suboptimal sequencing, mutation in something other than p53 that influences p53 expression |
VOA3937 | MOC | NMD | NA | Exome | Abnormal OE90 | Full | Clear IHC signal: suboptimal sequencing, mutation in something other than p53 that influences p53 expression |
WM1070 | MOC | NMD | NA | Exome (unpaired) | Abnormal OE70 (MOC) WT (MBOT) | Full | False positive IHC; tumor heterogeneity |
C885 | MOC | NMD | NA | SureSelect panel | Abnormal CA100 | TMA (then full) | Clear IHC signal: FN sequencing, undetected large deletion |
AF = allele frequency. TMA = tissue microarray. IARC = International Agency for Research on Cancer. VUS = variant of uncertain significance. NMD = no mutation detected. NA = not applicable. OE = overexpression. CA = complete absence.