ReviewPeutz-Jeghers Syndrome and Management Recommendations
Section snippets
History
Peutz-Jeghers syndrome (PJS) first appeared in the literature in the case report of Connor1 published in 1895. Dr Connor, a British physician, described identical twin sisters with oral and labial pigmentation. Interestingly, one of the sisters died of intestinal obstruction at age 20 years and the other of breast cancer at age 59 years.2, 3 However, the presence of intestinal polyposis in these patients was not described. These twins were then illustrated by British surgeon J. Hutchinson4 in
Cancer Risk
In 1975, Utsunomiya et al9 described the natural history of PJS in Japan. These patients had a greater mortality rate than the general Japanese population but better survival than those with familial adenomatous polyposis. In 1987, Giardiello et al8 first reported an increased risk of cancer in PJS. These investigators noted a history of gastrointestinal and nongastrointestinal cancers in 15 of 31 (48%) patients with PJS and calculated the relative risk of cancer in these individuals to be 18
Screening of At-Risk Individuals
Most authorities recommend screening at-risk individuals (first-degree relatives of PJS patients) beginning at birth with annual history and physical examination with evaluation for melanotic spots, precocious puberty, and testicular tumors.42 At-risk individuals who are asymptomatic and without stigmata at age 8 years should be offered genetic testing for mutation of the STK11/LKB1 gene.43, 44 This young age of genetic screening can be justified by the benefit of avoiding the higher morbidity
Conclusion
PJS, caused by germline mutation of the STK11 gene, is an autosomal dominant condition characterized by hamartomatous polyps primarily in the small intestine and mucocutaneous melanin pigmentation. With recent advances, screening at-risk individuals can now be done by genetic testing. The disorder is complicated in children and teenagers by small bowel intussusception. Moreover, adults are at high risk for development of gastrointestinal and nongastrointestinal cancer, which impacts on patient
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Supported in part by The John G. Rangos, Sr Charitable Foundation, The Clayton Fund, and NIH grant 5P50CA062924.