Study On Clinical Feature Of Intussusception And Malignant Tumor In Patients With Peutz-jeghers Syndrome

Peutz-Jeghers syndrome is a rare autosomal dominant inherited disorder characterized by multiple gastrointestinal hamartomas and mucocutaneous pigmentation,and an elevated cancer risk.The hamartomas are located predominantly in the small intestine and may cause intussusception.The aim of this article is to assess the characteristics of intussusception and malignant tumor in a large cohort of PJS patients to determine whether balloon-assisted enteroscopy and enteroscopy with polypectomy should be incorporated into surveillance recommendations, and to enact the optimal surveillance fit with Chinese PJS patients.All Peutz-Jeghers syndrome patients from General Hospital of Air Force(prospective follow up between January2005and May2013).We obtained clinical data by interview and chart review. Cumulative risks of intussusception and malignant tumor were calculated by Kaplan-Meier analysis.The study revealed that there were130Peutz-Jeghers syndrome patients.In all,90patients experienced intussusception,at a median age of16years at first occurrence.The intussusception risk was50%at the age of18years (95%confidence interval16-20years) and the risk was independent of sex and family history.The intussusceptions occurred in the small intestine in89%of events,and85%of all intussusceptions (n=112) presented as an acute abdomen.Therapy was surgical in96.9%of events. And the intussusceptions were caused by polyps with a median size of40mm(range15-70mm).Twenty-four cancers were diagnosed in nineteen patients,including17gastrointestinal(GI) cancer.The median age at first cancer diagnosis was57years.Cumulative cancer risks were higher for females than for males,and the risk was independent of family history.Considering the risk of intussusception and malignant tumor in Peutz-Jeghers syndrome,recommendations are as follows:1. history-taking,physical examination (including palpation testis) and haemoglobin analysis should start at the age of10years,at lyear intervals;2.video capsule endoscopy and/or MRI-enteroclysis should start at the age of8-10years,at2-3year intervals;3.gastroduodenoscopy should start at the age of20years,at2-5year intervals(depending on findings);4.colonoscopy should start at the age of25-30years,at2-5year intervals(depending on findings);5.breast exam or breast MRI should start at the age of25years,at1year intervals;mammography or breast MRI should start at the age of30years,at1year intervals(mammography and MRI alternately performed every six months);6.transvaginal ultrasonography and CA-125should start at the age of25-30years,at1year intervals.Intussusceptions in Peutz-Jeghers syndrome are generally caused by polyps>15mm. Therefore,We suggest take enteroscopic surveillance and removal of small-intestinal polyps>10mm-15mm to prevent intussusceptions.