The Clinical Study Of Peutz-jeghers Syndrome And Review Of Literatures

Background:Peutz-Jeghers syndrome (PJS), an autosomal dominant inherited disorder, is characterized by polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. Most patients had family history. Early studies suggested that PJS was not cancerous or it had a low canceration rate. With further study, the causative gene was located on the short arm of chromosome 19 (19p13.3) called STK11 (LKB1). And it was found PJS had a high risk not only in the gastrointestinal polyps but also in other systems (such as the reproductive system). Therefore, promotting the awareness of PJS, early diagnosis and treatment of the gastrointestinal polyps and setting a regular follow-up are definitely important.Objective:To rationalize the diagnosis, treatment and follow-up for patients with Peutz-Jeghers'syndrome (PJS).Methods:Clinical datas(including clinical features, complications, treatments and pathology) were retrospectively analyzed in 29 patients admitted to our hospital from 1991 to 2011 with reviewing literatures.Results:All the 29 patients had polyps throughout the gastrointestinal tract and mucocutaneous pigmentation.Eighteen patients (62.1%) had family history. The mean age was 12.1 years old (6y--45y) at the time of onset. The pigmentation appeared from 0.5y to 16y(3y on average). The first symptom to hospital of PJS individuals included acute/chronic abdominal pain or gastrointestinal bleeding.The percentage was 86.2%. The canceration rate was 17.2%.The polyps of 18 patients(62.1%) were resected by laparotomy or intraoperative endoscopy and follow-up by endoscopy. Gastric and colorectal polyps of 6 patients(20.7%) were resected by endoscopy only. Tumor resection was performed on 3 patients and palliative operation on 2 individuals/The main pathology of PJ polyps was hamartoma(82.7%).The PJS patients with the longest follow-up was 19 years, without laparotomy.Conclusions:Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterised by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentations. It usually visits to hospital in emergency because of acute abdomen.There is not a good way to cure it up to now. It is an effective treating method by cleaning PJ polyps in gastrointestinal tract.The polyps are easy to recur after resection. Individuals with PJS of 30 year's old and up have a high risk of canceration. Follow-up and treatment by endoscopy should be performed all life time, including the reproductive system.