ObjectiveTo analyze the clinical characteristics of familial polyposis in identical twins, and to explore the role of genetic factors in the pathological development of familial polyposis.

MethodsIn 2022, a pair of 36-year-old twin sisters from Xinjiang were admitted to the Affiliated Traditional Chinese Medicine Hospital of Xinjiang Medical University and Xuzhou First People's Hospital respectively. Genetic testing was conducted on them, and a comparative analysis was performed based on the family history of the twin patients, the entire diagnosis and treatment process, postoperative pathology, cancerous site, depth of infiltration, pathological type, and immunohistochemical results. Whole-genome library construction, standard whole-exome capture chip, and second-generation sequencing were also carried out.

ResultsComparing the postoperative specimens and pathological results of two patients, the cancerous site, infiltration depth, pathological type, and immunohistochemical results of the tumors were basically consistent, while stage A was later than stage B (T4N2M0-T4N0M0). The disease stage a was later than that of B (T4N2M0-T4N0M0). Gene test results showed that the 1067 codon c 3199-3202 There is a loss of heterozygosity of AGAA base. The deletion mutation causes fs frame shift mutation, which changes the amino acids from 1 067 amino acids (glutamine Gln) of the peptide chain, thereby affecting the function of APC protein.

ConclusionsThe occurrence of familial polyposis is determined by related genes. The influence of the environment may slow down or accelerate the occurrence of tumors. The treatment of polyp carcinogenesis in familial polyposis is currently the same as that of colorectal cancer.