Surveillance Of Peutzjehgers Patients

Because the lifetime cancer risk is significantly elevated in PJS patients compared to the general population, an aggressive cancer surveillance program has been proposed by several groups. In principle, such programs will prevent certain gastrointestinal malignancies and detect other cancers at an earlier stage, which should improve cancer-related mortality. These guidelines, which have not been formally adopted by professional medical organizations, are empiric and based upon expert opinion because of the lack of evidence-based clinical trial data.[1]

Recommendations from the St. Mark's Polyposis Registry, which has been modified by other groups, include the following: annual pancreatic ultrasound exams; annual pelvic ultrasound exams in females, and testicular ultrasound exams in males; biennial upper gastrointestinal endoscopic exams beginning at age 10; biennial colonoscopic exams beginning at age 25; and biennial small bowel X-ray studies starting at age 10. Any gastrointestinal polyps detected should be removed endoscopically and those polyps that cannot be endoscop-ically resected should be removed surgically via laparot-omy with intraoperative endoscopy.[6] In addition, mammography should begin at age 25 and be repeated every 5 years until age 35, then every 2 years until age 50, followed by yearly exams after 50 years of age. Pap smears are recommended every 3 years.[7,32] Family members of PJS patients should be enrolled in surveillance programs if they have clinical evidence of PJS or a detectable STK11 mutation.

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