Abstract Objective: To explore the clinical features, pathological features, gene test results, diagnosis,
treatment and prognosis of Peutz-Jeghers syndrome(PJS).
Methods: We retrospectively analyzed clinical data of 46 hospitalized cases of PJS during 2007 and
Results: All 46 patients had mucocutaneous melanin pigmentation and multiple gastrointestinal
polyposis. The pigmentation was first noticed often within 5 years old, and 14 cases had family
history. The clinical manifestations mainly included black spots, abdominal pain, hematochezia,
and anemia. Histological examinations showed that 20 patients were classifi ed as hamartomatous
polyps,18 as adenomatous polyps, 14 as inflammatory polyps, and 10 as zigzag polyps. Eleven
patients sequenced a panel of 20 genes previously associated with colorectal cancer (CRC) by
next-generation sequencing, and the results showed 5 patients with gene mutations, and 3 of them with intussusception and surgical histories were found to have pathogenic germline mutations
in the STK11 gene. Endoscopic treatment was the main therapy, but endoscopy combined with
laparoscopy or surgical treatment was performed when complications occurred or the polyp was
too large. Malignant tumors were found in 3 patients during follow-up.
Conclusion: PJS is a hereditary disease which is characterized by spots of the skin or mucosa and
gastrointestinal multiple polyps. The main pathological features are hamartoma and adenoma. The
risks for intussusception and surgical operation are found to be high in the patients with pathogenic
germline mutations in the STK11 gene. Endoscopic treatment is the main therapy. PJS patients
should be followed up regularly due to the increasing risk for cancer and being easily to relapse.