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DefinitionTop
Peutz-Jeghers syndrome (PJS) is characterized by the presence of Peutz-Jeghers polyps—hamartomatous polyps that are often grossly indistinguishable from juvenile and hyperplastic polyps but have a characteristic lobular architecture on histologic examination. These lesions are present throughout the digestive tract (most often in the small intestine) and are associated with discoloration of the mucosa and skin (tiny bluish or brown spots, usually around the mouth, in the oral mucosa, and on the hands and soles) and increased risk of cancers, including colon, stomach, small intestine, pancreas, breast, ovary, cervix, testicle, and lung cancer. In the course of the disease, gastrointestinal (GI) bleeding may occur, causing iron deficiency anemia and mechanical obstruction of the GI tract (intussusception).
DiagnosisTop
PJS is confirmed based on 1 of the criteria:
1) ≥2 Peutz-Jeghers polyps in the GI tract.
2) Any number of Peutz-Jeghers polyps in a person with a family history of Peutz–Jeghers syndrome.
3) Any number of Peutz-Jeghers polyps and characteristic discoloration of the skin and/or mucous membranes.
4) Characteristic discoloration of the skin and/or mucous membranes in a person with a family history of PJS.
Genetic tests for mutations in the STK11 gene (chromosome 19) are recommended in patients with clinical diagnosis and in relatives of patients with PJS.
SurveillanceTop
The first upper and lower GI endoscopy and examination of the small intestine (capsule endoscopy or magnetic resonance or computed tomography [CT] enterography) should be performed at the age of 8 to 10 years along with removal of the detected polyps. If polyps were found, subsequent tests should be performed every 2 years. If no polyps were found on the first examination, surveillance colonoscopies should be performed every 2 years from the age of 18 or in the case of new symptoms. Patients with PJS require pancreatic examination every year (endoscopic ultrasonography [EUS] or magnetic resonance imaging [MRI]) starting at the age of 30 to 35 years. In addition, women should undergo annual gynecologic examination (with cytologic examination and pelvic ultrasonography) starting at the age of 18 to 20 years. Clinical and radiographic breast examinations should occur annually starting at the age of 25 years. Testicular examination and scrotal ultrasonography should be performed in men with feminizing features.
