IDDF2018-ABS-0143 The diagnosis and treatment of peutz-jeghers’ syndrome

Background To explore the clinical features, endoscope expression, pathology features, gene test results, diagnosis, treatment and prognosis of Peutz-Jeghers’syndrome (PJS). Methods Retrospective analyses were performed on the clinical data of 46 cases of PJS patients in Department of Gastroenterology, PLA Army General Hospital from 2007 to 2017. Results All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal polyposis. The pigmentation was first noticed often within 5 y, and 14 cases had a family history. The clinical manifestations were mainly black spots, abdominal pain, hematochezia and anaemia. Histological examinations showed that 20 patients were classified as hamartomatous polyps, 18 as adenomatous polyps, 14 as inflammatory polyps and 10 as zigzag polyps. The results of 11 patients sequenced a panel of 20 genes previously associated with CRC by next-generation sequencing showed 5 cases with gene mutations, and three of which with intussusception and surgical histories were found to have pathogenic germline mutations in the STK11 gene. Endoscopic treatment is the main therapy, but endoscopy combined with laparoscopy or surgical treatment should be available when complications occur, or the polyp is too large. A few patients found malignant tumours during follow-up. Conclusions PJS is a hereditary disease which is characterised by spots of the skin or mucosa and gastrointestinal multiple polyps. The main pathological features were hamartoma and adenoma. The risk of intussusception and surgical operation is found to be high in the patients with pathogenic germline mutations in the STK11 gene, but the sample size was too small and needs to be further expanded. Endoscopic treatment is the main therapy. PJS patients should follow-up regularly due to the increased risk of cancer and being easy to relapse.