Genotype-phenotype correlation in children with adenomatous polyposis syndrome

Abstract

AIM: to identify the genotype-phenotype correlation in children with familial adenomatous polyposis (FAP) and to assess the risk of surgery. PATIENTS AND METODS: a retrospective study included children with FAP from January 2000 to December 2023. For analysis they were divided in two groups (“severe” and “non-severe” genotype) according to the results of the genetics. RESULTS: forty-two patients from 36 families with FAP were included in the study. Statistical analysis revealed that the mean age at the time of surgery was significantly different and was 13 ± 4 years in the “severe” genotype group vs. 16 ± 1 in the “non-severe” group (p = 0.04). The age of first colonoscopy (OR: 0.74, 95 % CI: 0.53–0.94, р = 0.03) and the carpeting of polyps (OR: 8.06, 95 % CI: 1.71–81.1, р = 0.04) were significantly associated with severe genotype. CONCLUSION: the “severe” genotype is characterized by earlier onset of the disease and age of colonoscopy, of polyps carpeting.