Peutz-Jeghers综合征的临床病理学特征和亚型分型初探:附295例临床报道

Preliminary study on the clinicopathological features and clinical subtypes of Peutz-Jeghers syndrome: a report of 295 Chinese cases

目的总结Peutz-Jeghers综合征(PJS)的临床病理学特征和临床亚型分型。方法回顾性分析空军总医院于1994年11月至2017年8月期间收治的295例PJS患者的临床病理学资料。结果 295例患者来自26个省市区的7个民族,其中可见口唇、颊黏膜、四肢等处皮肤黏膜黑斑者292例(99.0%)。黑斑出现年龄:0~33岁(中位数为2岁)。患者出现黑斑至出现腹部症状的间隔时间为0~45年(中位数为10年)。患者的初治年龄为1~45岁(中位数为15岁)。293例(99.3%)发现消化道息肉,其中分布于十二指肠+小肠者284例(96.9%),分布于结直肠者265例(90.4%),分布于胃部者234例(79.9%)。初治年龄14岁和黑斑出现年龄3岁可作为早发型和迟发型的分界点。结论 PJS的临床特征突出,其错构瘤息肉的临床危害严重。可根据口唇颊黏膜黑斑和初治年龄将PJS分成2种临床亚型,临床上应对其采用区别的治疗和随访策略。

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.