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Cancer Risk in Peutz-Jeghers Syndrome

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Peutz-Jeghers syndrome (PJS) is associated with increased risk of developing cancers in several locations. The overall cumulative risk of developing cancer between the ages of 15 and 64 years is about 93%. The mean age at diagnosis of cancer is 40 to 50 years.

The most common sites include breast (54%), colon (39%), pancreas (36%), stomach (29%), ovary (21%), and small intestine (13%). Between 5% and 12% of female patients with PJS develop ovarian cysts or ovarian sex cord stromal tumors. Boys with PJS can develop large cell calcifying Sertoli cell tumors which may be hormonally active and produce feminizing features.

Breast cancers in PJS can occur in young patients and can be bilateral. The cancer risk is similar to that seen with germline mutations of BRCA1 and BRCA2 genes. Other tumors seen in PJS include pancreatic cancer in young patients, adenomas and adenocarcinomas of biliary tree and gall bladder.

The image shows intramucosal carcinoma in a colonic Peutz-Jeghers polyp. Image courtesy of: Raul Gonzalez, MD; GI Pathology, University of Rochester Medical Center, Rochester, New York.

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