探讨Peutz-Jeghers综合征（PJS）的临床病理特点。

回顾空军总医院1994年11月至2017年8月间收治的295例PJS患者的一般情况、黑斑出现年龄及部位、黑斑至腹部症状出现的间隔时间、初次诊治年龄、检查治疗情况、消化道息肉分布、负荷及最大直径、息肉恶变情况及合并症发生情况等临床病理资料，并进行描述性统计并使用χ²检验、Mann-Whitney U检验、Kruskal-Wallis H检验等进行统计分析。

295例PJS患者来自26个省市区，7个民族。99.0%的患者具有口唇颊黏膜黑斑，且96.6%在10岁前均已表现，出现黑斑至腹部症状中位间隔时间10（Q=12）年，初次诊治中位年龄15（Q=12）岁，且黑斑出现年龄、间隔时间、初治年龄在性别、有无家族史、血型方面差异无统计学意义（P<0.05）。PJS错构瘤息肉最多见于十二指肠和小肠（96.3%，95% CI：94.5%~98.7%），息肉恶变者14例，消化道内外恶性肿瘤共19例，消化道及全身恶性肿瘤发病率明显高于普通人群。

PJS口唇颊黏膜黑斑和消化道错构瘤息肉的临床特征突出，消化道错构瘤息肉全胃肠道分布，可恶变。

To investigate the clinicopathological features of Peutz-Jeghers Syndrome (PJS).

The clinical and pathological data of 295 patients with PJS treated at the Air Force General Hospital from November 1994 to August 2017 were retrospectively analyzed, including general condition, age at appearance of mucocutaneous pigmentation, location of mucocutaneous pigmentation, interval time between the appearance of pigmentation and abdominal symptoms, age at first treatment, history of examination and therapy, distribution and maximum diameter of gastrointestinal polyps, malignant transformation of polyps, and complications.

The 295 patients with PJS belonged to seven ethnic groups and came from 26 provinces. The vast majority of the patients (99%) had pigmentation on the lip and buccal mucosa, and 96.6% of them had developed mucocutaneous pigmentation before the age of 10 years. The median interval time between the appearance of pigmentation and abdominal symptoms was 10 years (Q=12). The median age of initial diagnosis and treatment was 15 years old (Q=12). The age at appearance of mucocutaneous pigmentation, interval time between the appearance of pigmentation and abdominal symptoms, and the age at first treatment were not related to gender, family history, or blood type (P>0.05). PJS hamartoma polyps were mainly found in the duodenum and small intestine (96.3%, 95%CI: 94.5%-98.7%). Fourteen patients had malignant transformation of polyps and 19 had gastrointestinal or extra- gastrointestinal cancer. The morbidity of gastrointestinal and systemic malignant tumors was significantly higher in patients with PJS than in the general population.

PJS is characterized clinically by the presence of pigmentation on the lip and buccal mucosa and hamartoma polyps in the digestive tract, and the hamartoma polyps can be distributed in the whole gastrointestinal tract and may become cancerous.