Endoscopic papillectomy, single-centre experience.

BACKGROUND: Endoscopic removal of benign tumours of papilla is increasing. Our aim was to evaluate the outcome of endoscopic resection of papillary tumours. METHODS: In the years 2000-2012, 61 papillectomies were performed in Helsinki University Central Hospital. The cases were analysed retrospectively. RESULTS: There were 35 patients with benign tumour of papilla without familial adenomatous polyposis (FAP), 16 patients with FAP and 10 patients with ampullary cancer. Jaundice and bile duct dilation were risk factors for malignancy (p < 0.001). In benign tumours, the recurrence rate was 25.5 %. In 5/51 benign tumour cases (9.8 %), a pancreaticoduodenectomy was performed. The remaining cases were treated endoscopically. Neither tumour size, resection in one piece or piecemeal technique, nor coagulation of resection margins had an effect on the development of residual tumour. The total complication rate was 24.6 %. Pancreatitis developed in six patients (9.8 %, 3 mild and 3 moderate). In benign tumour cases, pancreatic stent decreased pancreatitis rate (p = 0.045). In cases where only a pancreatic sphincterotomy was performed, the risk of pancreatitis was high 4/7 (57 %). Bleeding was the most common complication (18 %). Only one patient was operated due to complication, a post-papillectomy bleeding. In six out of seven non-operated cancer patients, the disease progressed. CONCLUSION: Endoscopic papillectomy is an effective procedure for treating benign papillary tumours. Jaundice and bile duct dilation are more common in malignant tumours. Pancreatic stent decreases the risk of post-papillectomy pancreatitis. Pancreatic sphincterotomy without stenting carries a high risk of pancreatitis. For papillary cancer, surgery is recommended.

Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.

PURPOSE: The aim of study was to determine the clinical characteristics and mutational profiles of the mismatch repair genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients with small bowel cancer (SBC). EXPERIMENTAL DESIGN: A questionnaire was mailed to 55 members of the International Society for Gastrointestinal Hereditary Tumours, requesting information regarding patients with HNPCC-associated SBC and germ line mismatch repair gene mutations. RESULTS: The study population consisted of 85 HNPCC patients with identified mismatch repair gene mutations and SBCs. SBC was the first HNPCC-associated malignancy in 14 of 41 (34.1%) patients for whom a personal history of HNPCC-associated cancers was available. The study population harbored 69 different germ line mismatch repair gene mutations, including 31 mutations in MLH1, 34 in MSH2, 3 in MSH6, and 1 in PMS2. We compared the distribution of the mismatch repair mutations in our study population with that in a control group, including all pathogenic mismatch repair mutations of the International Society for Gastrointestinal Hereditary Tumours database (excluding those in our study population). In patients with MSH2 mutations, patients with HNPCC-associated SBCs had fewer mutations in the MutL homologue interaction domain (2.9% versus 19.9%, P = 0.019) but an increased frequency of mutations in codons 626 to 733, a domain that has not previously been associated with a known function, versus the control group (26.5% versus 2.8%, P < 0.001). CONCLUSIONS: In HNPCC patients, SBC can be the first and only cancer and may develop as soon as the early teens. The distribution of MSH2 mutations found in patients with HNPCC-associated SBCs significantly differed from that found in the control group (P < 0.001).