Appendix carcinoid associated with the Peutz-Jeghers syndrome

Area of Science:

• Gastroenterology
• Oncology
• Genetics

Background:

• Peutz-Jeghers syndrome (PJS) is a rare, autosomal-dominant disorder characterized by gastrointestinal polyposis and mucocutaneous melanic spots.
• PJS significantly increases cancer risk (up to 93% lifetime hazard) due to STK11 gene mutations.

Purpose of the Study:

• To report a rare case of appendiceal carcinoid tumor in a patient with Peutz-Jeghers syndrome.
• To discuss the implications for PJS management and cancer surveillance.

Main Methods:

• Case report of a 21-year-old male with a history of PJS presenting with intussusception.
• Surgical intervention involving polyp removal and appendectomy.
• Histopathological examination of removed polyps and appendix.

Main Results:

• The patient had extensive intestinal polyposis and a second episode of intussusception.
• Approximately 50 hamartomatous polyps were removed from the small intestine.
• An incidental finding of a pT1 carcinoid tumor in the appendix was identified.

Conclusions:

• The association between PJS and appendiceal carcinoid tumors is not previously described.
• Early recognition of malignancies and prevention of complications are crucial for improving life expectancy in PJS patients.
• The underlying mechanisms of carcinogenesis in PJS and predisposition to carcinoid tumors require further investigation.