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.