Coding according to D12 of the International Statistical Classification of Diseases and Health-Related Problems: Age group: adults.

Developer of clinical recommendations:
Association of Coloproctologists of Russia,
Association of Medical Geneticists

Coding according to D12 of the International Statistical
Classification of Diseases and Health-Related Problems:

Age group: Adults

   Aim: based on literature data and our own experience, to demonstrate the need for a meticulous family history harvesting in patients with suspected hereditary polyposis syndrome, as well as the importance of conducting a complex molecular genetic study.

   Materials and methods: the most known among hereditary polyposis syndromes is familial adenomatous polyposis (FAP).At the same time, according to the literature, one of the hamartomatous polyposis syndromes- juvenile polyposis - may mimic endoscopic picture of adenomatous polyposis. The article presents a clinical observation of a family whose members have been suspected of having FAP for several years, and only whole-exome sequencing helped to establish the diagnosis of juvenile polyposis syndrome.

   Results: based on the family history, as well as the clinical picture of the disease, which was somewhat unusual for FAP, the patient underwent whole-exome sequencing, which revealed a previously undescribed pathogenic variant in the SMAD4 gene - c.705dupA (p.Gly236ArgfsTer28). The presence of a similar mutation was also confirmed in 3 close relatives of the patient.

   Conclusion: taking into account the wide phenotypic variability of manifestations of juvenile polyposis, molecular genetic study of the SMAD4 and BMPR1A genes is of particular importancein patients with a clinic of adenomatous polyposis syndrome and the absence of mutations in the APC and MutYH genes.

   Objective: to study the features of CT and MRI diagnostics of desmoid fibroids (DF) in familial colon adenomatosis (SATC).
   Patients and methods: the study included 35 patients with desmoid fibroids (DF) in familial colon adenomatosis (SATC). All patients were examined using computed tomography (CT) and magnetic resonance imaging (MRI) with intravenous contrast. Localization, size, growth pattern, prevalence of DF, features of contrast and intensity of the MR signal on T2-VI and post-contrast T1-VI were evaluated. Twenty-five (71.4%) patients were observed in dynamics, including during systemic therapy.
  Results: in 21 (60.0 %) patients, a lesion of only one anatomical area was detected, and in 14 (40.0%) cases, a combined lesion of different anatomical zones was noted. In the majority of observations (33/35, 94.4 %) desmoid fibroids were detected in the mesentery and mesentery root of the small intestine, including with a combined lesion. The majority of patients (24/35, 68.6%) were diagnosed with a diffuse nodular form of growth; 13 (37.1%) had a nodular form and 6 (17.1%) had a diffuse form. Twenty-five patients (25/35, 71.4%) were repeatedly re-examined using CT (13/35, 37.1%) and MRI (12/35, 34.3%), in particular during systemic therapy.
   Conclusion: CT and MRI are the basic methods for detecting DF in SATC, allowing to determine the nature of tumor growth, to assess the prevalence of the tumor process and the degree of involvement of adjacent organs and structures. In dynamic observation and evaluation of the response of a desmoid tumor to systemic therapy, MRI has greater diagnostic capabilities compared to CT, since it takes into account not only the size of the desmoid, but also the intensity of the MR signal on T2-VI and the nature of the accumulation of contrast agent on post-contrast T1-VI with fat suppression.

   Aim: to analyze the results of surgery for familial adenomatous polyposis (FAP).
   Patients and methods: the case series study included 20 patients with  FAP,  85 % of procedures with anastomosis and 15 % with a permanent ileostomy. Laparoscopic approach was  used in 35 %.
   Results: the mean time of operation time was  243 minutes, the mean intraoperative blood loss was  244 ml, and the mean hospital stay was  17.2. Three (15.0 %) patients developed postoperative complications. Laparoscopic pro­cedures were advantageous in terms of intraoperative blood loss and faster recovery. The first polyps were detected in the rectal stump within 6-8 months after surgery, desmoid tumors within 24.3 months. Most patients had an acceptable quality of life with an mean number of stools per day 11.1.
   Conclusions: FAP is a complex problem of modern medicine requiring the teamwork of various medical specialists. Minimally invasive interventions for FAP have advantages over open procedures.

   Editorial board comments on the article "Results of surgical treatment of familial colon adenomatosis", authors: Kit O. I., Gevorkyan Yu. A., Soldatkina N. V., Kolesnikov E. N., Kolesnikov V. E. Bondarenko O. K., Khabzhokov E. K.

   Aim: to reveal hereditary mutations in patients with adenomatous polyps of the gastrointestinal tract.
   Patients and methods: a retrospective cohort study included 8 patients with adenomatous polyps of the gastrointestinal tract (ranging from 4 to several hundred). The APC, AXIN2, BMPR1A, BRCA2, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MutYH, NTHL1, PMS2, POLD1, POLE, SMAD4, STK11 genes were studied using new generation sequencing.
   Results: five patients were found to have pathogenic mutations in the genes APC (3 patients with > 100 polyps), POLE (1 patient with < 10 polyps), MutYH (1 patient with 2 mutations with > 28 polyps; 1 patient with monoallelic mutation in combination with a mutation in the APC gene with a number of polyps > 100).

   Conclusion: the probability of detecting a pathogenic mutation increases with an increase in the number of polyps in a patient.

   Aim: to evaluate the results of bowel polyposis in children.
   Patients and methods: the retrospective study included children, aged 1 to 17 years. The clinic manifestations, diagnostics and treatment approach are described. Patients with adenomatous polyposis (n = 38) and juvenile polyposis (n = 16) are presented in details.

   Results: options for surgical procedure are described due to early and late results, morphological data and diagnostic findings (colectomy with ileorectal anastomosis and formation of seromuscular cylinder, n = 8; colproctectomy with ileal pouch, n = 10).
   Conclusions: the detection of colorectal polyps requires a wide range of diagnostic and treatment approaches depends on a clear understanding of the nosological form of polyposis, which allows to determine the optimal period and method of surgical treatment.

   Introduction: Peutz-Jeghers syndrome (PEUTZ-JEGHERS SYNDROME; PJS; OMIM#175200) is hereditary tumor syndrome and is characterized by the occurrence of hamartomatous polyps of gastrointestinal tract, melanocytic pigmentation of the skin and mucous membranes, as well as a high predisposition to malignant tumors of various locations. Despite the fact that the clinical features of PJS are currently well understood, the nature of the variability in the phenotypic manifestations of the disease has not been fully described.
   Aims: to determine the phenotypic and clinical features in patients with PJS depending on the type of mutation in the STK11 gene.
   Patients and methods: the clinical and genetic data of 3 patients aged 21, 28 and 39 years with clinical signs of PJS are presented. All patients underwent medical genetic counseling and molecular genetic diagnostics of the STK11 gene using NGS and MLPA methods.
   Results: large deletions of ex2-8 and ex1 in the STK11 gene were revealed in two patients, and one patient showed a splice site variant c.921-1G > A. The identified variant ex2-8 has not previously been described in international databases. When evaluating the clinical and genetic features, the most severe picture of the disease was in a patient with an extended deletion of exons 2-8, large number of polyps and surgical procedures in history. However, in this case, melanocytic pigmentation became less with age, in contrast to patients with a splice site mutation and a single exon deletion. No cancers were detected in the patients.
   Conclusion: the molecular genetic test made it possible to confirm the clinical diagnosis of PJS, based on various phenotypic features, and to work out the personalized plan for follow-up. Evaluation of the genotype-phenotype correlations will be possible with the development of a unified register of mutation carriers.

   Aim: to assess of late results of original method of rectocele repair with non-absorbable polypropylene W-form mesh.
   Patients and methods: the pilot study included 37 patients which underwent surgery for rectocele repair using original technique of W-mesh. The late results were assessed in 21 (56.6 %) of them ≥ 6 month after surgery. Before the surgery and 6 months after, patients underwent a clinical assessment of symptoms. Specialized questionnaires for assessment of constipation (Colonic evacuation disorder scale, PFDI-20, Cleveland Clinic Constipation Score) were used. Defecography and anorectal manometry were performed before and in 6-months after surgery for evaluation of pelvic floor disorders.
   Results: no obstructive defecation symptoms were revealed in 85.7% of patients 6 month after surgery.
In ≥ 6 months after surgery all questionnaires showed decrease in scores by more than 2 times. Comparison of the results before and 6 months after the surgery showed significant differences for all questionnaires (p < 0.0001). According to defecography performed before and after the surgery a significant reduction (p < 0.05) of rectocele depth, time of rectal voiding (decreased by 1.5 times) and residual volume of contrast agent (decreased by 2.5 times) were revealed. There are no severe complications requiring re-operation were observed.
   Conclusion: transvaginal mesh repair of symptomatic rectocele demonstrated good clinical results 6 months after surgery. Good results were revealed in 85,7 % of patients confirmed by specialized questionnaires and defecography.

   Aim: to assess the effectiveness of neo-CT in the FOLFOX6 regimen in patients with mid- and upper rectal cancer (RC)
associated with poor prognosis.
   Patients and methods: fifty-two patients were included into study. All had neo-CT with subsequent surgical treat-
ment between 2017 and 2021. Of them 94.2% had stage III and 5.8% had stage II. An extramural vascular invasion
was detected by MRI in 33 (63.5%) patients. The distance between the tumor and the mesorectal fascia was ≤ 2 mm
in 17%. All patients had 4 cycles of neo-CT in FOLFOX6 regimen followed by surgery.
   Results: the compliance (≥ 4 cycles of neo-CT) was 82.7 % (n = 43). The overall toxicity rate was 35.6 %. Sphincter-saving surgery was performed in 51 (98.1 %) patients. Postoperative morbidity was 25.0 %. Final pathology revealed stage III in 29 (55.8 %) patients, stage 0 — stage II — in 22 (42.3 %). In accordance with the degree of pathomorphosis (CAP, 2019), 12 (23.1 %) patients showed a partial response. In one patient (1.9 %) no signs of residual tumor were detected. Downstaging of the T stage compared with MRI data before neo-CT was noted in 23 (44.2 %) patients, N stage — in 29 (55.8 %). With a mean follow-up of 31 (3-54) months, local recurrences were detected in 5 (9.6 %) patients, and distant metastases in 4 (7.7 %). The cumulative 3-year recurrence rate was 11.3 ± 4.8 %. The three-year overall and recurrence-free survival rate was 88.2 ± 5.8 % and 76.4 ± 7.4 %, respectively.

   Conclusion: the multimodal approach for RC with adverse prognostic factors using neo-CT in the FOLFOX6 regimen
is well tolerated by patients, has a small toxicity and postoperative morbidity as well. It is necessary to develop new
pathology criteria for tumor response to neo-CT.

   Aim: to evaluate the early results of endoscopic submucosal tunnel dissection (ESTD for large benign colon neo-
plasms.
   Patients and methods: a prospective non-randomized comparative study included 100 patients with large benign
epithelial colon neoplasms (more than 3 cm in diameter). The main group included 50 patients who underwent
endoscopic submucosal tunnel dissection. The control group included 50 patients who underwent traditional endo-
scopic submucosal dissection (ESD).
   Results: Four (4 %) patients (1 in the main and 3 in the control group) were excluded from the study due to the
conversion of endoscopic procedure. The incidence en bloc removal of neoplasms and the negative resection margins were significantly higher in the main group than in the control one — 98 % and 87.2 % (p = 0.04) and 89.8 % and 70.2 %, respectively (p = 0.01).
   Conclusion: ESTD for large benign epithelial colon neoplasms shows better radicalness in comparison with endo-
scopic submucosal dissection.

   Familial adenomatous polyposis is one of the most difficult to diagnose diseases in medical practice, at an early stage, multiple colorectal adenomas are clinically most often not manifested in any way, and at a later stage they inevitably transform into colorectal cancer. Poor clinical manifestation rarely make it possible to establish a diagnosis before the onset of malignancy, so extraintestinal symptoms can be a lifeline in the diagnosis of this disease. Congenital retinal pigment epithelium hypertrophy is a benign tumor that develops from the retinal pigment epithelium and can occur both in an isolated form and in patients with familial adenomatous polyposis of the colon. Unfortunately, in the Russian-language clinical literature there are practically no scientific papers devoted to this problem. Clinical case of patient P., 35 years old, who was routinely admitted to the surgical unit with a diagnosis of familial adenomatous polyposis is presented. During the additional examination, multiple tumor-like lesions of the eyes were revealed according to the type of hypertrophy of the retinal pigment epithelium. From the anamnesis, it was found out that in 2017 the patient underwent a check-up by an ophthalmologist, where an early pathological condition was detected for the first time, but the doctor’s attention was not paid to this clinical manifestation, and the patient was not subsequently referred for a consultation with a coloproctologist with suspicion of familial adenomatous polyposis.

   Comments on the article "Congenital hypertrophy of the retinal pigment epithelium in a patient with familial adenomatous polyposis of the large intestine (clinical case)", authors: Kryachko A. A., Chuguzov K. D., Durleshter V. M., Karagodina P. A.

   Aim:  to assess the efficacy and safety of laparoscopic ventral mesh rectopexy in patients with rectocele and rectal prolapse.
   Materials and methods: a systematic review of the literature on the efficacy and safety of laparoscopic ventral mesh rectopexy in patients with rectocele and/or rectal prolapse. After compiling a search query, 2716 publications were found in the PubMed, MEDLINE, EMBASE, Scopus, Cochrane library, CENTRAL, ISI Web of Science and eLibrary databases. Twenty-four papers were selected according to the inclusion criteria for the review, with a total number of 2101 operated patients.

   Results: the follow up period after surgery ranged 30.1 (12-74) months. In 20 of 34 studies, the median age of patients was over 60 years, with a median of 62.1 years. The mean operative time was 122.3 minutes (85 to 200 minutes). Complications were revealed in 138 patients (6.5 % observations), recurrence — in 4.1 %. A significant improvement in the symptoms of obstructive defecation was noted in 79.6 %.
   Conclusion: laparoscopic ventral mesh rectopexy is an effective method for posterior pelvic floor compartment prolapse in terms of both anatomical and functional results. It is safe and has a low risk of complications. However, further research is required to develop indications for the use of this proctdure as a “gold standard”.