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. Author manuscript; available in PMC: 2022 Nov 28.
Published in final edited form as: Mod Pathol. 2020 Jul 28;34(1):194–206. doi: 10.1038/s41379-020-0618-9

Table 2.

Mucinous borderline tumor (MBOT) and mucinous carcinoma (MOC) cases from the Genomic Analysis of Mucinous Tumors (GAMuT) cohort with discrepancies between p53 immunohistochemistry (IHC) and TP53 mutation status by sequencing.

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.