Image Description
Peutz-Jeghers syndrome is a rare autosomal dominant syndrome with incomplete and variable penetrance. It is characterized by hamartomatous polyps throughout gastrointestinal tract (small intestine > colon > stomach), mucocutaneous hyperpigmentation, and markedly increased risk of several malignancies (colon, breast, ovary, cervix, lung, pancreatic, and thyroid cancers).
The image shows endoscopic view of a sporadic Peutz-Jeghers polyp in colon. Image courtesy of: @Patholwalker.
About the Disease
Hamartomatous polyps of gastrointestinal tract occur sporadically as well as components of genetic or acquired syndromes. When occurring in the syndromic setting, some of them are associated with germline mutations in tumor suppressor genes or oncogenes and carry increased risk of malignancies. Juvenile polyps and polyps associated with Peutz-Jeghers Syndrome will be addressed in this section. References: 1. Feldman, M., Friedman, L. S., & Brandt, L. J. (2016). Sleisenger & Fordtrans Gastrointestinal & Liver Disease; 10th Edition. Philadelphia, PA. Elsevier Saunders. 2. Goldblum, J. R. et al (2018). Rosai and Ackermans Surgical Pathology; Eleventh Edition. Philadelphia, PA. Elsevier. 3. Kumar, V., Abbas, A. K., & Aster, J. C. (2015). Robbins and Cotran Pathologic Basis of Disease; Ninth Edition. Philadelphia, PA. Elsevier.