A Family Survey Of Peutz-jeghers Syndrome

Objective:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inheriteddisorder characterized by gastrointestinal hamartomatous polyposis and mucocutaneouspigmentations.Germline mutations in the STK11gene which is a serine threonine kinaselocalized on chromosome19p13.3(Serine Threonine Kinase11, also known as LKB1gene) cause PJS.Through the surveys of patient with PJS, to draw the genealogy charts,retrospectively analyze the clinical characteristics of the patients, the diagnosis andtreatment, and the follow-up results, to propose a reasonable management and thefollow-up strategy for patients with Peutz-Jeghers syndrome.Methods: Investigate of patients and high risk relatives from36pedigrees who weretreated in our hospital from October2003to October2013.Retrospectively analysistheir data,including clinical manifestation,diagnosis,treatment and follow-up results.Results: Seventy-six PJS patients from thirty-two families was included.Seventy-twopatients (96%) have mucocutaneous pigmentation.Polyps occur most commonly in thesmall intestine,and less frequently in the colon, stomach and rectum.The median age ofonset in PJS was15years old. The average age at first diagnosis was16years andaverage age of first intussusception was16years old.30endoscopy,33colonoscopyand77DBE procedures (48of oral approach,29of anal approach) were carried out in36probands.A total of728polyps (diameter of5-10mm in96,11-30mm in358,30-60mm in233,60-90mm in41)was resected by DBE. A total of five complicationsoccurred (perforation in two cases after endoscopic resection,bleeding with a fall of Hbin three cases).73cases was followed up with the cumulative follow-up time of292.5years,the average follow-up time of3.9years.Nine patients died,including seven casesof death due to cancer (three cases of colon cancer, one case of gastric cancer, one case of breast cancer, one case of nasopharyngeal carcinoma, one case of jejunaladenocarcinoma with general abdominal metastasis) and two cases of short bowelsyndrome after multiple small intestine resection.The overall cancer rate was10.66%inPJS patients, with the average age of40years old developed malignancies.Most of themdead in the30to50years old (71.4%).The average age of death due to cancer was43years old. Total mortality in patients with the disease is11.8%, while the median age ofdeath is42years old. The proportion of the deaths due to cancer is77.7%(7/9). Themost important cause of death excluding cancer was the short bowel syndrome aftermultiple surgical resection.Conclusion:1.Peutz-Jeghers syndrome genealogical chart shows it is a autosomaldominant inherited disorder with high penetrance.Most of them can occurintussusception, especially the small-intestine intussusception.2.Since Peutz-Jegherssyndrome patients carry a high cancer risk, especially the development ofgastrointestinal cancer and breast cancer,the clinical surveillance is indicated.3.Throughthe investigation of family, the physicians can focus on a small range of specifichigh-risk groups to intervene.Early diagnosis, early treatment, endoscopic removal ofpolyps can reduce the time surgery, but whether endoscopic removal of polyps canreduce the rate of cancer and disease mortality remains to be confirmed by furtherstudies.4.Double-balloon enteroscopy (DBE) can be used as an screening andmonitoring tool of small bowel polyps in Peutz-Jeghers syndrome patients.It is safe andeffective.