Colorectal polyposis syndrome is a condition characterized by the presence of numerous polyps in the colon and rectum, which may or may not be accompanied by manifestations in other organs. Polyposis syndromes are categorized into two groups: inherited and non-inherited. Each type exhibits distinct histological characteristics and varying cancer risks.

Dr. CKI Ho Thanh Truc, from the Center for Endoscopy and Endoscopic Gastrointestinal Surgery at Tam Anh General Hospital TP HCM, states that individuals with inherited polyposis syndromes face a higher risk of colorectal cancer. Several common inherited colorectal polyposis syndromes include:

Familial adenomatous polyposis (FAP) is an autosomal dominant genetic disorder caused by a germline mutation in the APC gene. Individuals with FAP typically develop at least 100 or more adenomatous polyps in their colon and rectum. Endoscopic imaging often reveals numerous adenomatous polyps distributed throughout the colorectum. While polyp sizes vary, most are smaller than 1 cm; however, larger polyps with malignant changes or advanced cancer can also be observed.

Dr. Truc advises a patient. Photo: Tam Anh General Hospital.

Attenuated FAP is a form of adenomatous polyposis where the number of polyps in the colon is fewer than 100. The risk of colorectal cancer in patients with this syndrome is quite high, with the average age of colorectal cancer diagnosis in FAP patients typically ranging from 50-55 years old.

Gardner syndrome is a variant of FAP, characterized by multiple colorectal polyps accompanied by osteomas or fibromas.

Turcot syndrome is also a variant of FAP, commonly featuring adenomatous polyps in the colorectum along with medulloblastomas or glioblastomas.

MUTYH-associated polyposis is an autosomal recessive genetic disorder. Affected individuals often develop many adenomatous polyps in the colon, ranging from dozens to hundreds. According to Dr. Truc, the lifetime risk of developing colorectal cancer in this group can reach 80%. Regular health check-ups can facilitate timely detection and removal of polyps, helping to reduce the risk of colorectal cancer.

Peutz-Jeghers syndrome results from an autosomal dominant gene mutation, characterized by the development of hamartomatous polyps in the gastrointestinal tract (small intestine, colon, stomach) and mucocutaneous pigmentation (such as dark spots on the lips, oral mucosa, and fingers). Peutz-Jeghers polyps are most commonly found in the small intestine but can also occur in the colorectum.

Cowden syndrome is an inherited chromosomal disorder, characterized by multiple hamartomatous polyps in the gastrointestinal tract (stomach, small intestine, colorectum), skin, and mucous membranes. The risk of colorectal cancer associated with this syndrome is very low.

Dr. Truc notes that there are also some other less common polyposis syndromes, such as juvenile polyposis syndrome and intestinal ganglioneuromatosis. These polyps carry a relatively high risk of progressing to colorectal cancer. Each type has distinct polyp characteristics.

Following a colonoscopy to determine polyp characteristics (location, number, size, predicted histopathology), and an assessment of the patient's general health, doctors prescribe a personalized treatment plan. This may include endoscopic polypectomy or colectomy. Surgery is considered when the number of polyps is too high to be entirely removed endoscopically, if polyps have a high risk of malignancy, or if cancer has already developed. Depending on the extent of the lesions, doctors may recommend partial or total colectomy.

If a family member has an inherited colorectal polyposis syndrome, such as FAP or MAP, other family members should undergo regular monitoring, health check-ups, and tests as advised by their doctor. This approach allows for early detection, timely treatment, and prevention of gastrointestinal cancer.

Thao Nhi