Adenocarcinoma of the small intestine in a patient with Peutz-Jeghers syndrome

Abstract

Peutz-Jeghers syndrome is a genetic disorder inherited in an autosomal dominant pattern and characterized by a mutation in the STK11 gene. According to domestic literature, the risk of inheriting this pathology from a parent to a child is 50%. According to WHO data, in 2018, more than 74,000 new cases of colorectal tumors were detected in the Russian Federation, with 5–10% of cases being hereditary syndromes, of which 1% is Peutz-Jeghers syndrome. The frequency of occurrence is approximately 1/29,000–1/120,000.  The aim of the work is to share the experience of diagnosing and treating a patient with Peutz-Jeghers syndrome. Today, we have the ability to timely diagnose pathological changes in the mucous membrane of the small intestine, perform minimally invasive treatment, reducing rehabilitation time due to a decrease in surgical trauma.