MEDICINA (KAUNAS, LITHUANIA), vol.61, no.1032, pp.1-14, 2025 (SCI-Expanded)
Abstract: Background and Objectives: Serrated adenocarcinoma (SAC) is a distinctive neoplasm
that is histopathologically characterized by the presence of epithelial serration, an
eosinophilic cytoplasm, and a vesicular nucleus. However, the literature data concerning
somatic mutations in SACs remain extremely limited. Materials and Methods: A total of
159 colon resection cases diagnosed with adenocarcinoma whose DNA mutations were
analyzed by next-generation sequencing (NGS) were retrospectively reviewed. In 23 cases,
the SAC area exceeded 50%. A chi-square test was used to evaluate histopathologic characteristics
and somatic mutations in SACs and non-serrated adenocarcinomas (non-SACs).
Results: A significant difference was found in histological grade (p = 0.019) between SACs
and non-SACs. TP53, KRAS, and PIK3CA genes have been identified as the most frequently
mutated genes in both SACs and non-SACs. No statistically significant difference in somatic
mutations was observed between the two groups (p > 0.05). Conclusions: In the
present study, a higher prevalence of KRAS mutations was observed in SACs compared
to BRAF mutations (KRAS: 39.1%, BRAF: 4.3%). This finding is consistent with the recent
literature reporting a higher prevalence of KRAS mutations in colorectal SACs, in contrast
to previous studies. The somatic mutation results of our study and the previous literature
data suggest the potential importance of epigenetic alterations documented in the literature
in the development of SACs.