Objective:
To report a case of rectal cancer in a patient with Peutz-Jeghers syndrome (PJS).
Clinical presentation and intervention:
A 20-year-old woman with intermittent bloody stool of 4 months was admitted for examination. Gastroendoscopy revealed multiple polyps involving the stomach, small intestine, colon and a rectal adenocarcinoma. A diagnosis of PJS was made based on intestinal polyps with characteristic pathology and melanotic macules on the lips. After surgery and chemotherapy upon follow-up at 8 months, the patient did not have any signs of recurrence.
Conclusion:
This case showed that rectal carcinoma should be considered for young patients with PJS.