Peutz-Jeghers syndrome (PJS) is an autosomally dominant disorder associated with mutations in tumor suppressor gene STK11, and characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition:

• up to 93% lifetime risk of any cancer in affected individuals, and cancer often develops around age 40-49 years; associated cancers include cancers of the small bowel, stomach, pancreas, breast, ovary, cervix, lung, and testes
• colon cancer risk is reported at 39%, and typical age of colorectal cancer diagnosis is 42-46 years in affected patients
• rarely, PJS may be idiopathic and not associated with STK11 mutations

Figure 3. Characteristic features of Peutz-Jeghers syndrome. A, Melanontic macules (“spots”) on the tips of the fingers of an adult patient. B, A large polyp on a thick stalk in the duodenum. When seen, the diagnosis is almost always Peutz-Jeghers syndrome. C, Photomicrograph of a polyp from a patient with Peutz-Jeghers syndrome (hematoxylin-eosin, original magnification × 10). Note fibers of smooth muscle arborizing through the polyp (arrows). All large Peutz-Jeghers syndrome polyps have this finding, but it may not be mentioned in pathology reports. (Samadder, et al., 2019)

DynaMed [Internet]. Ipswich (MA): EBSCO Information Services. Colorectal Cancer Screening; [updated 2020 Jan 15, cited 2021 Jan 15]. Registration and login required.

Samadder NJ, et al. Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes. Mayo Clin Proc. 2019 Jun;94(6):1099-1116. Full-text for Emory users.

Beggs AD, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010 Jul;59(7):975-86.

Full-text for Emory users.

Abstract: Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS.

More PubMed results on PJS.