A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.

BACKGROUND: Familial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in adenomatous polyposis coli (APC) gene. Here, we described the identification of a causative APC gene deletion associated with FAP in an Iranian family. METHODS: Diagnosis of FAP was based on clinical findings, family history, and medical records (colonoscopy and histopathological data) after the patients were referred to Reza Radiotherapy and Oncology Center, Iran, for colonoscopy. Blood samples were collected, and genomic DNA was extracted. APC mutation screening was conducted by target next-generation sequencing and quantitative real-time PCR. RESULTS: A novel heterozygous large deletion mutation, c.(135+1_136-1)_(*2113+1_*2114-1) spanning exon 3 to 16 [EX3_16 DEL] of APC gene (GenBank Accession# MG712911), was detected in a proband and all her affected relatives in five generations, which was absent in unaffected family members and normal controls. CONCLUSIONS: This novel deletion is the first report, describing the largest deletion of APC gene. Our novel finding contributes to a more comprehensive database of germ line mutations of APC gene that could be used in medical practice for the molecular diagnosis, risk assessment susceptibility of the disease for the FAP patients.

Three Anastomotic Techniques Following Laparoscopic Rectal Cancer Resection: Our Experience in 155 Patients.

PURPOSE: This study aimed to assess the impact of 3 anastomotic techniques after laparoscopic rectal cancer resection. METHODS: In a cross-sectional study, the data of 155 patients who underwent surgery for rectal cancer were retrieved. An anastomosis was created between the left colon and anal canal with 3 different methods: coloanal anastomosis with protective ileostomy (group A), coloanal anastomosis without ostomy (group B), and delayed coloanal anastomosis (group C). The rates of anastomotic problems (leakage, peritonitis, and collection) were calculated for each treatment method. Multivariate analysis was used to verify the effect of anastomosis techniques. RESULTS: In 5 (3.2%) patients, peritonitis was observed in which 3 (9.7%) of them belonged to group B and 2 (4.1%) belonged to group C. In 9 (5.8%) patients, presacral collection and anastomotic leakage were observed; 4 (8.2%) patients belonged to group C, 4 (12.9%) patients to group B, and 1 (1.3%) patient to group A. Postoperative obstructions occurred in 5 (10.2%) patients of group C, 2 (6.5%) patients of group B, and 2 (2.7%) patients of group A. Rectovaginal fistula was detected in 2 patients from group B. CONCLUSIONS: Laparoscopic surgery of rectal cancer with transanal method is reliable and acceptable in terms of oncologic and surgical results. This study showed the best results in patients who had protective ostomy.

Splenic cysts: Analysis of 16 cases.

BACKGROUND: Splenic cysts are known as rare clinical encounter. Classifying into primary (true) and secondary cysts (pseudocysts), true cysts contain cellular epithelial lining and subdivided into parasitic and non-parasitic cysts. This study aimed to determine the outcome of treatment in patients with splenic cyst. METHODS: All patients with splenic cyst who had been treated in Department of General Surgery of Ghaem and Omid teaching hospitals over a 24-year period were identified. The medical records of these 16 patients were reviewed. RESULTS: The study patients included 11 females (68.75%) and 5 males (31.25%) with average age of 39.8 years. Fifteen cases had true cyst including 11 parasitic cysts (hydatid) and only one pseudocyst. 37.5% of the splenic cysts had coexistent cysts in liver, pelvis, omentum and paracolic regions. Nine patients underwent total splenectomy and 5 cases partial splenectomy and 2 remaining cases received conservative medical treatment. The size of the cysts varied from 6 to 25 centimeter with average size of 14.3 centimeter. All patients with hydatid cysts received albendazole postoperative medical treatment with albendazole for 6 months. All patients recovered after treatment. CONCLUSION: Open splenectomy whether total or partial is effective and safe in patients with splenec cysts with or without hydatidosis. The outcome of treatment is good without recurrences.

Hemosuccus pancreaticus as a rare cause of gastrointestinal bleeding: a report of two cases.

Pancreatic diseases are known to be associated with complications such as pseudocyst and abscess. A pseudoaneurysm associated with pancreatitis may develop as well. The pseudoaneurysm may rupture into various parts of the gastrointestinal tract; the peritoneal cavity, or the retroperitoneum. We report two cases of Hemosuccus pancreaticus admitted to our center in the past five years. One case was associated with acute pancreatitis, and another case was associated with chronic pancreatitis. A pseudocyst was found in two cases. Both were successfully managed by emergency surgery. So, Hemosuccus pancreaticus is a rare cause of gastrointestinal bleeding with difficult diagnosis, and surgery is the effective treatment for the patient with severe bleeding. However in cases with no life-threatening bleeding angiography and embolization can be performed.