Peutz-Jeghers syndrome screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]

Overview

Screening for cancerous lesions by small intestine radiography, esophagogastroduodenoscopy (EGD), colonoscopy, pancreatic ultrasound, pelvic ultrasound, mammography, and Papanicolaou (Pap) test are recommended among patients with Peutz-Jeghers syndrome.

Screening

Patients who are at risk of developing Peutz-Jeghers syndrome are screened for the locations of the hamartomas by:

• Genetic testing
• Upper GI endoscopy
• Enteroclysis
• Colonoscopy

Screening for cancerous lesions among patients with Peutz-Jeghers syndrome include the following:

• Small intestine radiography (every 2 years)
• Esophagogastroduodenoscopy (every 2 years)
• Colonoscopy every 2 years
• Pancreatic ultrasound (annually)
• Endoscopic ultrasound
• Magnetic resonance cholangiopancreatography (MRCP)
• Abdominal CT
• Pelvic ultrasound (annually)
• Testicular ultrasound (annually)
• Mammography at ages 25, 30, 35, and 38 years, then every 2 years until age 50 years, then annually
• Cervical Papanicolaou (Pap) test (annually).
• Annual physical examination that includes evaluation of the breasts, abdomen, pelvis, and testes should be done by a physician
• Annual complete blood count to check for anemia should be done

References

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