Clinical Utility of Testing

Genetic testing is useful to confirm the diagnosis of Peutz-Jeghers syndrome or to identify presymptomatic first-degree relatives. Diagnostic and presymptomatic testing is offered from buccal swabs or blood specimens. Prenatal testing is available using chorionic villus samples or fresh or cultured amniocytes.

Cancer screenings for affected and at-risk individuals vary from the general population. Colonoscopy should be conducted every 1 to 2 years beginning in adolescence. Identification of a Peutz-Jeghers polyp requires routine endoscopic surveillance every 1 to 2 years throughout the life of the individual. Upper gastrointestinal endoscopy, small intestinal double-contrast radiology, or push enteroscopy also has been suggested at 2-year intervals due to the risk for small bowel cancers.18

Men with Peutz-Jeghers syndrome should perform regular testicular examinations (beginning at age 10 years) that should be followed by ultrasound if a mass or clinical symptoms occur.18 It is recommended that women with this syndrome perform monthly self breast examinations and undergo annual clinical breast examinations beginning at age 18 to 20 years. Mammography should ensue at age 25 to 35 years and be conducted every 2 years until age 40, at which time they can follow general population guidelines for breast cancer screening. Annual pelvic examinations and Pap smears should begin in the teens. Surveillance for ovarian cancer is complicated by a lack of efficient screening tools that avoid unnecessary laparo-scopic surgeries, but nevertheless, annual abdominal and transvaginal ultrasound alone or in combination with CA-125 testing is recommended.18 Although these surveillance practices are recommended, there have been no published reports proving their efficacy. Additional studies are needed to determine the appropriate cancer screening modalities in individuals with Peutz-Jeghers syndrome.

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