Other Polyposis Syndromes

ABSTRACT

Gastrointestinal (GI) malignancy is very common in the United States. Colon cancer is the third most common cancer and the third most common cause of cancer death in the United States. The most common cause of inherited colorectal cancer is familial adenomatous polyposis, which accounts for 1% of all new colon cancers. The other inherited polyposis syndromes account for 0.1% of all large intestinal malignancies. This heterogeneous group of inherited disorders [Peutz-Jeghers syndrome (PJS), Cowden's syndrome (CS), Bannayan-Riley-Ruvalacaba syndrome (BRRS), and juvenile polyposis syndrome (JPS)] results in an increased risk of colorectal cancer as well as upper GI cancer. Although all of the hamartomatous polyposis syndromes result in an increased risk of colon cancer, PJS and JPS have a much higher rate of GI malignancy than CS or BRRS. Other complications of these disorders also produce substantial morbidity. In PJS, intussusception and GI bleeding, which can result in multiple laparotomies and short bowel syndrome, present a more formidable management problem than malignancy. In CS, associated extra-intestinal malignancies of breast and thyroid pose the greatest threat. An understanding of the variable genetic defects, clinical presentations, and treatment options of these disorders allows for earlier diagnosis and successful treatment for at-risk individuals.

KEYWORDS

Peutz-Jeghers syndrome - juvenile polyposis syndrome - Cowden's syndrome - Bannayan-Riley-Ruvalacaba syndrome - inherited polyposis syndromes - Cronkhite-Canada syndrome

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