Large Rearrangements in Genes Responsible for Familial Adenomatous Polyposis, <i>MUTYH</i>-Associated Polyposis and Peutz–Jeghers Syndrome in Russian Patients

Аim: to reveal the rate of large rearrangements in the genes responsible for familial adenomatous polyposis, MUTYH-associated polyposis and Peutz–Jeghers syndrome.Materials and methods. The MLPA method was used for identification of large rearrangements. A total number of 135 patients was included in the study: 83 patients with a clinical diagnosis of “familial adenomatous polyposis”, 18 — with suspected MUTYH-associated polyposis, and 34 — with a clinical diagnosis of “Peutz–Jeghers syndrome”.Results. Seven large deletions and one large duplication in the APC gene were identified in 83 patients with classic familial adenomatous polyposis, with rate of large rearrangements 9.6 % (8/83). In 18 patients with suspected MUTYH-associated polyposis, no large rearrangements were found in the MUTYH gene. Four large deletions in the STK11 gene (12 %, 4/34) were detected in 34 patients with Peutz–Jeghers syndrome.Conclusion. For the first time, the expediency of including the method of detecting large rearrangements in routine DNA test list for Russian patients with various hereditary polyposis syndromes is demonstrated. Routine use of MLPA method makes it possible to increase the total frequency of detection of pathogenic variants in the APC and STK11 genes above 90 %. At the same time, the need for searching of large rearrangements in the MUTYH gene were not justified

The role of hereditary colorectal cancer registries in identification of high risk patients and treatment improvement

Up to 10% of cases of sporadic colorectal cancer are considered to be related to hereditary genetic factors. The rates of colorectal cancer related to already identified genetic factors is about 5%. In the last decades, due to the development of comprehensive familial cancer registries and progress in genomics, clinical diagnostic criteria for specific hereditary syndromes have been proposed and multiple genes have been detected whose germ mutations increase the risk of neoplastic syndromes. Identification of individual patients and families with hereditary syndromes (familial adenomatous polyposis, Lynch syndrome, MYH-associated polyposis, hamartoma syndromes) may help to develop an effective strategy for monitoring and, as the results, for reduction of cancer incidence and improvement of survival. The aim of this literature review is to assess the influence of the registries of patients with hereditary types of colorectal cancer on its incidence and long-term treatment results

Risk factors of postoperative prolonged ileus after colorectal cancer surgery

OBJECTIVE. The authors identified independent risk factors of postoperative prolonged ileus after colorectal cancer surgery. MATERIAL AND METHODS. Multivariate logit regression analysis was made in order to reveal independent risk factors of prolonged ileus. RESULTS. The frequency of prolonged ileus cases consisted of 13 %. The authors detected three independent risk factors such as body mass index higher than 25 kg/m² (p=0,033), taking of opioid analgetics (p=0,022) and left colon flexure mobilization (p=0,047) in multivariate statistical analysis. CONCLUSIONS. Postoperative prolonged ileus was the frequent complication in colorectal cancer surgery. There is a possibility to identify the group of patients who exposed to risk of occurrence of prolonged postoperative ileus due to application of revealed risk factors

SIDE-TO-END ANASTOMOSIS IN LOW ANTERIOR RECTAL RESECTION

The authors have launched a prospective randomized study aimed to make a comparison of functional results of formation of straight coloanal (control group) and side-to end (main group) anastomosis in case of low anterior rectal resection since 2012. Each group consisted of 40 patients undergoing operation concerning uncomplicated rectal cancer of medium-ampullar section of rectum. It was noted that patients of the main group had lower stool frequency in postoperative period. A function of the interior sphincter was less damaged and the rate of compliance of rectum was high