Mutations of the CEACAM5 Gene PELPK Motif in Patients With Appendiceal or Colorectal Adenocarcinoma.

Abstract

Background/aim: The study examines whether DNA level mutations in the carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5) gene Pro-Glu-Leu-Pro-Lys (PELPK) motif differ between patients with appendiceal or colorectal adenocarcinoma. Significant differences between these two groups in correlation with development of metachronous liver metastases could help in the development of targeted therapies and preventative treatment approaches.

Patients and methods: This retrospective comparative trial analysed 18 patients, 9 with appendiceal adenocarcinoma and 9 with colorectal adenocarcinoma. Genetic sequencing was conducted to detect mutations in the CEACAM5 gene PELPK motif. Data collection spanned from 2016 to 2022, with analysis completed in 2024 at a single tertiary care referral centre, where all participants underwent cytoreductive surgery with hyperthermic intraperitoneal chemotherapy.

Results: No DNA mutations were detected in the CEACAM5 gene PELPK motif in either the study groups. Despite this, significant (but not unexpected) differences were observed between the two groups regarding operative time, peritoneal cancer index, and length of hospital stay (p=0.031, 0.001, and 0.005, respectively). Patients with colorectal adenocarcinoma also had significantly more synchronous liver metastases present at time of their peritonectomies (p=0.029).

Conclusion: The absence of DNA level mutations in the CEACAM5 gene PELPK motif underscores the need for further research at the mRNA and protein levels to better understand the biological distinctions between these two groups. Future studies should focus on exploring alternative molecular pathways that may contribute to the differing clinical profiles of appendiceal and colorectal adenocarcinoma patients.