Lynch syndrome

Lynch syndrome is a congenital disorder that is closely associated with a higher incidence of malignant diseases, particularly certain forms of colorectal cancer. Another name for this condition is hereditary non-polyposis colorectal cancer (HNPCC). 

The incidence in our region is approximately 1:1,000.

The basis of the disease consists of inherited genetic mutations in certain genes that are important for DNA repair in cells. Impairment of the function of these genes leads to the accumulation of mutations in the genetic material of cells, and over time, such altered cells can easily transform into tumor cells. The disease may be congenital, with mutations arising during fetal development, or inherited from an affected parent. Therefore, Lynch syndrome is typically characterized by a familial occurrence. Families in which several members have developed malignant tumors at a young age should be particularly vigilant.

Individuals with Lynch syndrome have an increased risk of developing colorectal cancer, especially forms that arise from the mucosa without passing through the stage of intestinal polyps. In addition, there is an increased risk of other malignancies, such as endometrial (uterine) cancer, gastric cancer, pancreatic cancer, liver cancer, and cancers of the bile ducts, among others. These tumors tend to develop at a relatively young age in affected individuals.

Diagnosis

In individuals from families with Lynch syndrome, genetic testing can be performed to detect the presence of a causative gene mutation. In patients with a confirmed diagnosis, a specialized surveillance (prevention) program is implemented for early detection of tumors, which allows for more effective treatment. Regular endoscopic examinations, particularly gastroscopy and colonoscopy, as well as gynecological examinations in women, are especially important. If a tumor in the colon is detected during colonoscopy, certain characteristic changes associated with Lynch syndrome may also be identified in histological samples (i.e., microscopic examination of tissue obtained during colonoscopy).

Treatment

Cure is not possible, as the underlying problem lies in the patient’s genetic makeup. Regular monitoring aims primarily at early detection of precancerous and cancerous changes, enabling timely treatment, ideally by surgical methods.

• increased risk of colorectal cancer at a relatively young age
• risk of malignant tumors