Peutz-Jeghers syndrome is an autosomal dominant disease with multiple hamartomatous polyps in the stomach, small bowel, and colon along with distinctive pigmented skin lesions.
Most (66 to 94%) cases appear to be caused by a germline mutation of the STK11/LKB1 (serine/threonine kinase 11) tumor suppressor gene. Patients are at a significantly increased risk of gastrointestinal (GI) and non-GI cancers. GI cancers include those of the pancreas, stomach, small intestine, and colon. Non-GI cancers include those of the breast, lung, uterus, ovaries, and testes.
The skin lesions are melanotic macules of the skin and mucous membranes, especially of the perioral region, lips and gums, hands, and feet. All but the buccal lesions tend to fade by puberty. Polyps may bleed and often cause obstruction or intussusception.
© Springer Science+Business Media
© Springer Science+Business Media
Diagnosis of Peutz-Jeghers Syndrome
Clinical evaluation
Diagnosis of Peutz-Jeghers syndrome is suggested by the clinical picture.
Patients with perioral or buccal pigmentation and/or ≥ 2 GI hamartomatous polyps or a family history of Peutz-Jeghers syndrome should be evaluated for this syndrome including testing for STK11 mutations (see also the American College of Gastroenterology's 2015 clinical guidelines about genetic testing and management of hereditary GI cancer syndromes).
GI Cancer Surveillance
GI cancer surveillance of patients with Peutz-Jeghers syndrome includes colonoscopy, upper endoscopy, and video capsule endoscopy beginning at age 8, with the timing of subsequent surveillance determined by the findings. Colonic polyps > 1 cm typically are removed.
Surveillance for breast, ovarian, endometrial, and cervical cancer should include breast self-examination starting at age 18 and then should include annual pelvic examination, pelvic or transvaginal ultrasound, Papanicolaou (Pap) test, and breast MRI and/or mammogram starting at age 25.
Surveillance for pancreatic cancer should begin at age 30 and includes magnetic resonance cholangiopancreatography (MRCP) or endoscopic ultrasonography.
Surveillance of the testes (for Sertoli cell tumor) by testicular examination should be done annually from birth to adolescence; ultrasonography should be done if abnormalities are palpated or if feminization occurs.
Although patients with Peutz-Jeghers syndrome are at increased risk of lung cancer, no specific screening is recommended but should be considered if patients smoke.
First-degree relatives should be evaluated for skin lesions of Peutz-Jeghers syndrome.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
American Gastroenterological Association: Guidelines for genetic testing and management of hereditary gastrointestinal cancer syndromes (2015)
