The role of the NOD2/CARD15 gene in surgical treatment prediction in patients with Crohn's disease.

PURPOSE: Crohn's disease (CD) belongs to chronic disorders with unpredictable disease course. The aim of this study was to identify how genetic testing (NOD2/CARD15) can be used in patients with CD to predict the need for surgical treatment (to define an aggressive type of disease where the patient can profit from early surgery). METHODS: The patients who were tested genetically had undergone a surgery due to CD at the Department of Surgery University Hospital Brno Bohunice between 2010 and 2016. The control group consisted of patients with CD who had been diagnosed with CD at least 5 years prior to the testing and had not required any surgical intervention. The second control group was healthy subjects. RESULTS: In total, there were 117 operated patients for CD, 77 patients with CD that had not undergone surgery for CD and 30 healthy subjects. For patients with at least one genetic mutation, the risk of the necessity of surgical treatment of CD is 1.96 times higher than for patients with no mutation. Patients with two or more mutations were generally operated on at a younger age, in a shorter time after being diagnosed and each patient had a partial resection of the ileum. CONCLUSION: The group of operated patients with CD had a significantly higher distribution of at least one genetic mutation as opposed to the non-operated group. In patients with two or more mutations, the disease course was more aggressive. This group of patients might profit from the conservative top-down or early surgical therapy.

Acute abdomen in patients with Crohns disease case reports.

INTRODUCTION: Crohns disease (CD) as a chronic inflammatory disease can affect the entire digestive tract and therefore involves a wide range of symptoms and health problems. It often mimics other diseases of the digestive tract. In the case of acute abdomen in a patient with CD, it is necessary to approach it individually in cooperation with a gastroenterologist in order to reduce the extent of resection and to ensure fewer resections. CASE REPORTS: In our two case reports, we present patients with bowel obstruction and inflammatory acute abdomen. The first patient benefits from conservative treatment despite the presence of a bowel obstruction (resulting from inflammation) before subsequent surgical treatment. It is a relatively common acute complication of CD. The second patient, despite her ongoing pregnancy and the impossibility of using appropriate imaging techniques in the follow-up treatment, with regard to her clinical condition, requires an urgent surgical solution due to a fairly rare perforation to abdominal cavity. Key words: Crohns disease - surgery - acute abdomen - bowel obstruction - peritonitis.

Gastrointestinal Stromal Tumours of the Rectum - Evaluating the National Registry Data with Respect to its Use in Clinical Practice.

BACKGROUND: Gastrointestinal stromal tumours (GIST) are rare malignant mesenchymal tumours with an incidence of 1 in 100,000. They represent only 5% of gastrointestinal tumours. The GISTs are mainly located in the stomach (60-70%) and in the rectum in < 5% of cases. In the case of localized, resectable tumours, the treatment is surgical resection. Depending on the size and localization of the tumour in the rectum, either a local excision, rectal resection with anastomosis, or abdominoperitoneal amputation with permanent stoma can be performed. In contrast to carcinomas, the metastasis of GISTs into lymph nodes is rare; therefore, from an oncological point of view, lymphadenectomy in the form of mesorectal excision is not required. Neoadjuvant treatment using tyrosine-kinase inhibitors (TKI) is recommended for tumours larger than 5 cm and in case of tumours infiltrating surrounding organs or sphincters in order to achieve complete resectability, less mutilating and continent procedure. In GISTs with a positive resection line, re-resection can be attempted. Adjuvant TKI therapy can be considered in cases of CD117 positivity and after resections of GISTs with medium and high-risk malignant behaviour. The TKI treatment is also indicated in cases of unresectable and metastatic GISTs. METHODS: Data obtained from the GIST registry by the 1st January 2017, when 10 centres in the Czech Republic were contributing to the registry, were analysed. RESULTS: We analysed 1,095 patients out of which 45 (4.1%) had GIST localized in the rectum. The average age of the patients was 60 years. There were significantly more males (68.9%; p = 0.0007) and symptomatic patients (62.2%; p = 0.034). In total, 82% of the patients underwent surgery. Local excision was performed in 37.8%, resection of the rectum with anastomosis in 29.7%, and Miles operation in 29.7%. In the cohort, most tumours were 2-5 cm in size and almost half of the tumours presented a high risk of malignant behaviour. Systemic treatment was reported in 73% of patients. A complete remission was achieved in 80% of patients with GIST of the rectum. The median survival rate was 11.3 years and the 5-year survival rate is 90.6%. CONCLUSION: Despite the success of TKI treatment, the only potentially curative method of rectal GISTs is a surgical R0 resection. Given the relatively rare frequency of these tumours, proper diagnosis and treatment is demanding. Therefore, these patients should be preferably treated in specialised centres. This work was supported by grant MH CZ - RVO (FNBr, 65269705).  The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 19. 12. 2018 Accepted: 2. 2. 2019.