Objective To analyse the clinical features of Peutz-Jeghers syndrome and its canceration, and to summarize the management and the follow-up strategy for patients with Peutz-Jeghers syndrome. Methods Clinical data of 30 patients with Peutz-Jeghers syndrome dating from October 1985 to September 2005 in West China Hospital of Sichuan University were analyzed retrospectively. Results Fourteen (46.67%) definite family histories of Peutz-Jeghers syndrome were found. Pigmentation of skin and mucosa, abdominalgia and hematochezia were major clinical manifestations of the syndrome. There were 18 patients (60.00%) complicated with intussusception and acute intestinal obstructions, 16 patients (53.33%) with gastrointestinal bleeding, and 6 patients (20.00%) developed malignancy. The frequent types of malignancy were carcinoma of small intestine (3 cases), colon carcinoma (2 cases) and gastric carcinoma (1 case) in order. The mean age of the canceration-diagnosed patients was 32 years old. The type of pathohistology of all the malignancy was poorly differentiated mucus adenocarcinoma. High-frequency endoscopic electroresection, orthdox polypectomy and enterectomy were the major means of treatment. Conclusion Patients with Peutz-Jeghers syndrome are at high risk of canceration at relatively early ages and usually the differentiation of the tumor is poor. Endoscopy should be performed regularly and the high-frequency electroresection is an effective therapy in disposing intestinal polyp. Screening can also improve the efficacy of Peutz-Jeghers syndrome.
Objective To explore the clinical comprehensive therapy of Peutz-Jeghers syndrome. Methods From January 2000 to December 2010，71 cases of Peutz-Jeghers syndrome underwent endoscopic polyp resection firstly，and those with unresectable lesions or with severe complications underwent rescue laparotomy. After endoscopic or surgical treatment，the patients took Celecoxib capsules voluntarily for 6 to 9 months under informed consents. All cases were followed up from 6 months to 8 years. Results Twenty-nine patients had familial history of Peutz-Jeghers syndrome among the 71 patients （41 males and 30 females）. Sixty-two cases underwent 94 surgeries and intussusception was the most common cause of laparotomy. Sixty-five patients underwent 169 double-balloon endoscopy （DBE） therapies，and a total of 1 714 polyps were resected by DBE polypectomy. The largest major axis of small-bowel polyp was 8 cm. No severe complications occurred after DBE polypectomy except for 3 cases of intestinal perforation. Eight patients took Celecoxib capsule，3 of them were treated more than 6 months，and DBE examination showed the gastrointestinal polyps reduced in number and size. Conclusion The comprehensive treatment （including of endoscopic therapy，operation，and drug intervention） is a safe and effective clinical model to treat Peutz-Jeghers syndrome．
Objective To investigate the medication advancement of gastrointestinal polyposis in patients with Peutz-Jeghers syndrome (PJS). Methods Literatures about the medication advancement on gastrointestinal polyposis of PJS were reviewed and analyzed. The recent development of targeting drugs, especially the data of cyclooxygenase-2 selective inhibitors and rapamycin, were emphatically summarized. Results With the deep investigation of PJS and application of selective drugs, the medication of gastrointestinal polyposis in cases of PJS has got more advancement. The extensive use of synthetic cyclooxygenase-2 inhibitors and rapamycin in clinic developed a new way to treat gastrointestinal polyposis of PJS. Conclusion The cyclooxygenase-2 selective inhibitors and rapamycin have the following features: noninvasive, high selectivity and good curative effects. They have splendid prospects in the clinical treatment of gastrointestinal polyposis in patients with PJS and are bring the treatment of gastrointestinal polyposis in cases of PJS into a targeting therapy phase.
【Abstract】ObjectiveTo facilitate a better understanding of the progress in the research, diagnosis and treatment of PeutzJeghers syndrome (PJS).MethodsAlmost all the papers related to PJS from various magazines published in English and Chinese in recent years were reviewed. Current progresses in PJS research and related diagnosis and treatment were discussed in this review.ResultsPJS is a rare inherited disease with autosomal dominant trait, which is characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation of the lips, buccal mucosa, and digits. This syndrome is commonly complicated with intestinal obstruction, bleeding, or intussusception,and patients with this disease are at high risk for the development of both GI and extraintestinal malignancies. STK11 on chromosome 19p13.3 are responsible for most cases of PJS. The polyps of PJS tend to have a high incidence of malignant change, and the recurrence of malignancy after treatment is also high. ConclusionThe STK11 has been identified as one of the main genes responsible for PJS and has close correlation with formation and development of tumors. Patients with PJS are at high risk for the development of both GI and extraintestinal malignancies.
Objective To investigate the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome (PJS) in Chinese cases. Methods The clinical and pathological data of 295 patients with PJS who were treated in Air Force General Hospital from Nov. 1994 to Aug. 2017 were retrospectively analyzed and a multifactor statistical study was carried out on. Results Two hundreds and ninety-five patients with PJS belonged to 7 nationalities and came from 26 provinces and urban areas. 99.0% (292/295) of the patients had black spots on the lip and buccal mucosa, and the median occurrence time was 2 years old (0–33 years). The median age of inital diagnosis and treatment was 15 years old (1–45 years). The median interval time between the occurrence of black spots and abdominal symptoms was about 10 years (0–45 years). PJS hamartoma polyps were found in alimentary canals of 293 patients (99.3%), and 96.9% distributed in the duodenum and small intestine (n=284), 90.4% distributed in the colorectal (n=265), 79.9% distributed in the stomach (n=234). Patients of black spot appearing at age <3 years and (or) initial treatment at age <14 years were classified as early-onset subtype, otherwise they could be included in delayed-onset subtype. Conclusions The clinical features of PJS are prominent and the harm of PJS hamartoma polyps is serious. The black spots on the lip and buccal mucosa can be used as an early warning signal to divide the PJS patients into 2 clinical subtypes, which should be differentiated in clinical therapy and follow-up strategy.