Abstract
BackgroundHereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins.MethodsWe compared the expression patterns of cytokeratins (CK7 and CK20), mucins (MUC2/5 AC/6), CDX2 and β-catenin in Lynch syndrome and FCCTX.ResultsDifferences were identified for CK20 and nuclear β-catenin, which were significantly more often expressed in FCCTX than in Lynch syndrome (p < 0.001), whereas MUC2, MUC5AC and MUC6 were overexpressed in Lynch syndrome tumors compared with FCCTX tumors (p = 0.001, < 0.01, and < 0.001, respectively). We observed no differences in the expression patterns of CK7 and CDX2.ConclusionsIn summary, we identified significant differences in the immunoprofiles of colorectal cancers linked to FCCTX and Lynch syndrome with a more sporadic-like profile in the former group and a more distinct profile with frequent MUC6 positivity in the latter group.
Highlights
Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX)
Lynch syndrome was defined as presence of disease-predisposing mismatch repair (MMR) gene variants and FCCTX was defined as families that fulfilled the Amsterdam criteria, but had tumors with retained MMR function and for the majority of families genetic MMR gene testing without mutations
Significant differences applied as regards age, tumor location (78% of FCCTX tumors were left-sided versus 26% of Lynch syndrome, p < 0.001) and extent of differentiation (54% of Lynch syndrome poorly differentiated/undifferentiated versus 17% of FCCTX tumors (p < 0.001))
Summary
Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins. Hereditary non-polyposis colorectal cancer (HNPCC) represents the most common subset of hereditary colorectal cancer and comprises the major subsets Lynch syndrome and familial colorectal cancer type X (FCCTX). The purpose of this study is to record the immunoprofile of markers well-described in colorectal carcinoma in general but, hitherto, incompletely studied in hereditary colorectal carcinomas. These include cytokeratins, mucin glycoproteins, and CDX2. Β-catenin is included, to compare the extent of the wnt pathway activation in the two hereditary cohorts, as Wnt-signaling genes are shown to be upregulated in FCCTX tumors
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