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ECPB 2018, 83(3): 29–32
Research articles

The Part of APC Gene in the Development of Colon Cancer in Patients with Family Adenomatic Polyposis


Introduction. Family Adenomatosis Polyposis (FAP) is one of the most important and common factors in the development of colorectal cancer (СRС). It is an autosomal dominant, linked to the disease site due to the mutation of the AРС gene (Adenomatosis polyposis coli).

The average age of development of СRC against the background of FAP is 30-35 years, which is 30 years earlier than in the general population. In 5 % of patients, polyps become malignant by the age of 20. FAP was the first disease associated with СRC, for which the APC gene was identified, being the dominant etiological factor in the development of this pathology. Genetic mutations result in impaired migration of epithelial cells instead of the lumen of the gut, as it normally happens, to the base of the crypt where they accumulate and cause the emergence of abnormal intestinal crypts and polyps. This disease is characterized by the development of multiple adenomatous polyps and microadenoma in the colon. They are manifested during puberty and can affect not only the colon, but also the entire gastrointestinal tract. The number of polyps in the colon in FAP varies from some hundred to several thousand. The earlier the FAP manifests, the heavier its flow is, and the sooner the state of decompensation comes. The risk of the development of СRC in the carriers of mutations in the AРС gene is about 100 %. Tumors of other localizations (stomach, corpus of uterus, thyroid gland, mammary gland, central nervous system, and primary multiple malignant neoplasms) can occur in 75 % of patients-carriers.

Materials and methods. The general-clinical, endoscopic examinations and morphological analysis of three siblings (two sisters and one brother) was conducted. The first sister at the age of 30, had multiple polyps of the colon and the confirmed marker mutation of the APC gene, and carried the operation of a total colonectomy with ileorectal anastomosis and the left rectum cuticle; the second sister, at the age of 35 carried a total colonectomy (her colon was diffusely covered with polyps of various sizes) with a low front resection of the rectum and an overlay of the tank J-like hardware ileorectal oanastomosis end-to-side and was imposed on ileostomy; their native brother, who was diagnosed with a highly differentiated adenocarcinoma (against the background of multiple polyps of the colon) with metastasis in the lymph node. At the moment, patients felt well and are under the permanent patronage of doctors.

Conclusions. Total colonectomy with ileostomy laying and demucification of the anal canal with the formation of the illeal tank eliminates the risk of developing cancer. If subtotal colonectomy is performed (removal of most of the colon with preservation of the rectum) with ileorectal anastomosis, then the rest of the rectum should be examined every 3-6 months. It is desirable to carry out the colonectomy as soon as possible after veryfying diagnosis of FAP, due to the high risk of malignancy of polyps. For relatives of the first line it is expedient to carry out genetic research on the detection of mutations in the APC gene in order to prevent the development of CRC.

Article recieved: 30.08.2018

Keywords: colon cancer, APC gene, familial adenomatosis polyposis

Full text: PDF (Ukr) 245K

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