Peutz-Jeghers syndrome in children: high recurrence rate in short-term follow-up

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Oncology

Background:

• Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
• PJS significantly increases the risk of developing various cancers, including gastrointestinal, pancreatic, breast, and ovarian cancers.

Purpose of the Study:

• To report on the clinical management and outcomes of four pediatric cases of Peutz-Jeghers syndrome.
• To highlight the strong association between childhood PJS, hereditary cancer syndromes, and polyp recurrence.

Main Methods:

• Case series review of four children diagnosed with PJS.
• Surgical management of large polyps via laparotomy.
• Intraoperative endoscopic polypectomy for smaller polyps to preserve intestinal length.
• Annual follow-up gastrointestinal examinations including upper GI series, small intestinal contrast study, and barium enema.

Main Results:

• All four pediatric patients had significant family histories of PJS and/or other cancers.
• The largest polyps were presumed to be the cause of initial symptoms.
• Three of the four patients experienced recurrent small intestinal polyps.
• One patient required a second laparotomy due to recurrent abdominal pain.

Conclusions:

• Childhood-onset PJS is strongly associated with a hereditary cancer predisposition.
• Patients with PJS exhibit a high incidence of polyp recurrence, necessitating vigilant monitoring.
• Lifelong surveillance of the gastrointestinal tract and other susceptible organs is crucial for early detection of malignant changes in PJS patients.