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lüll Peutz-Jeghers Syndrome Wu M; Krishnamurthy KStatPearls-/-ä 2024[Jan]; ä (ä): äPeutz-Jeghers syndrome (PJS) is a hereditary cancer syndrome characterized by gastrointestinal (GI) polyposis, mucocutaneous pigmented macules, and cancer predisposition. Patients with Peutz-Jeghers syndrome are at an increased risk for developing GI cancers of the colorectal, pancreatic, and gastric organs, in addition to a wide variety of non-GI epithelial malignancies such as breast, uterine, and cervical cancers, lung cancer, and tumors of the ovaries and testicles. Among the various malignancies, colorectal is most common, with a lifetime risk of 39%. Followed by breast cancer in females with a lifetime risk of 32% to 54%. Females with Peutz-Jeghers syndrome are also at risk for gynecological cancers such as benign ovarian sex cord tumors with annular tubules (SCTATs) and mucinous tumors of the ovaries and fallopian tubes. Males with Peutz-Jeghers syndrome are at risk of Sertoli cell tumors of the testes, which are often hormonally active, secreting estrogen. Males present with gynecomastia, advanced bone age, and rapid growth with short stature. Due to the increased risk for various malignancies, diligent surveillance is recommended.ä |