Peutz-Jeghers综合征及其合并癌变的临床分析

目的分析Peutz—Jeghers综合征及其合并癌变的临床特征，总结其治疗和随访策略。方法回顾性分析四川大学华西医院自1985年10月至2005年9月间收治的30例Peutz-Jeghers综合征患者的临床资料。结果14例患者（46．67％）家族史明确，临床以皮肤黏膜色素沉着、腹痛及便血为主要表现。并发肠套叠、肠梗阻18例（60．00％），消化道出血16例（53．33％）；发生恶变6例（20．00％），其中小肠癌3例，结肠癌2例，胃癌1例，平均确诊年龄32岁，恶变者的病理组织学分型均为低分化黏液腺癌。内镜高频电凝息肉切除术、开腹肠道切开息肉切除及肠部分切除术为主要治疗手段。结论Peutz—Jeghers综合征患者是恶性肿瘤的高发人群，癌的发病年龄较轻，分化较差。定期复查内镜，以内镜高频电凝积极处理肠息肉，以及筛查肿瘤是提高Peutz—Jeghers综合征远期疗效的有效方法。

Clinical Analysis of Peutz-Jeghers Syndrome and Its Canceration

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.