A single center study of colorectal cancer screening for Lynch syndrome / 中华医学遗传学杂志

OBJECTIVE@#To determine the ratio of deficient mismatch repair (dMMR) proteins and Lynch syndrome among patients undergoing colorectal cancer resection.@*METHODS@#From June 2014 to May 2016, immunohistochemistry for mismatch repair proteins including mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), mutS homolog 6 (MSH6) and PMS1 homolog 2 (PMS2) were carried out on 207 surgically resected specimens. Samples with lost expression of MMR proteins underwent genetic testing.@*RESULTS@#Loss of expression of MMR proteins were found among 21 patients and accounted for 10.14% of the colorectal cancers. dMMR was more common in patients ≤50 years old, or with proximal tumor at splenic flexure and mucinous adenocarcinoma. Ten patients underwent genetic testing, with three pathogenic mutations (MSH6 c.3013C>T, MLH1 c.199G>A and a novel MSH6 c.584delT) and four ambiguous mutations identified. At least 1.4% of the colorectal cancers were diagnosed as Lynch syndrome.@*CONCLUSION@#Routine screening for Lynch syndrome among patients with colorectal cancer with MMR protein immunohistochemistry as preliminary screening method and MMR gene sequencing as diagnostic method is effective and feasible. It can reduce missed diagnosis of Lynch syndrome and bring lifelong benefit to patients and their families.

Long-term therapeutic results in patients with perforated gastroduodenal ulcer operated on by simple closure and pharmacal management / 中国基层医药

Objective To investigate the long-term follow up results of patients with gastroduodenal ulcer perforation managed by simple suture and pharmacal management.Methods 74 patients with perforated gastroduodenal ulcer operated with simple closure and pharmacal management in hospital from February 1990 to May 2005 were observed,after operation the patients underwent follow-up.According to follow-up data,the long-term therapeutic results of these patients were determined.Results The rate of symptomatic ulcer recurrence(Visick Ⅲ-Ⅳ)was14.9%(26.9% in patients with gastric ulcer and 8.3% in duodenal ulcer)in 74 patients with perforated gastroduo denal ulcer operated on with simple closure and pharmacal management after operation.Both of them showed significant difference(Fisher' s Exact Test:P = 0.043).The incidence of long-term complications was 10.8% and there was no statistical difference between the patients with gastric ulcer and those with duodenal ulcer(Fisher's Exact Test:P =0.440).56 patients were surveyed by endoscopy or upper gastrointestinal series within 6 months after operation.The rate of cure was 91.1% ,significant difference was not observed between the patients with gastric ulcer and those with duodenal ulcer(Fisher' s Exact Test:P = 0.336).But after a year ulcer recurrence rate of total 46 patients was 10.9% and the gastric ulcer recurrence rate significantly higher than that of duodenal ulcer(Fisher's Exact Test;P = 0.047).Conclusion Long-term effect of patients with perforated gastroduodenal ulcer operated by simple closure and pharmacal management was satisfactory.But the former was less effective than the latter.