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
