POLYPS 2

lPolyposis syndromes are hereditary conditions that include:

lFamilial adenomatous polyposis (FAP).

lGardner syndrome.

lTurcot syndrome.

lPeutz-Jeghers syndrome.

lCowden disease.

lFamilial juvenile polyposis.

lSome of the syndromes have extraintestinal features that help differentiate one syndrome from the other.

lGardner syndrome (GS)

lIs the association of colonic adenomatous polyposis, osteomas, and soft tissue tumors (epidermoid cysts, fibromas, desmoid tumors).

lTurcot syndrome

lIncludes polyps, medulloblastoma, congenital hypertrophy of the retinal pigmented epithelium [CHRPE], and glioblastoma multiforme).

lCowden syndrome

lIncludes polyps, fibrocystic disease, breast cancer, and thyroid cancer).

lPeutz-Jeghers syndrome.

lInherited in an autosomal dominant manner, PJS is characterized by the association of gastrointestinal polyposis and mucocutaneous pigmentation.

lPeutz-Jeghers type hamartomatous polyps are most prevalent in the small intestine (jejenum, ileum, and duodenum, respectively), but can occur elsewhere in the GI tract.

lMucocutaneous hyperpigmentation presents in children under the age of five years as dark blue to dark brown mucocutaneous macules around the mouth, eyes, and nostrils, in the perianal area, on the buccal mucosa, and on the fingers.

 lFemales are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries.

lMales occasionally develop calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia.

lIndividuals with Peutz-Jeghers syndrome are at increased risk for intestinal and extraintestinal malignancies, including colorectal, esophageal, gastric, breast, ovarian, and pancreatic cancers.

 lJuvenile polyposis syndrome (JPS) is characterized by predisposition for hamartomatous polyps in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum.

lJPS is diagnosed if any one of the following is present:

lMore than five juvenile polyps of the colorectum.    OR

lMultiple juvenile polyps throughout the GI tract.      OR

lAny number of juvenile polyps.                              and a

lFamily history of juvenile polyps.

 

lIt is an autosomal dominant colon cancer syndrome with proximal colonic predominance.

lFew colonic adenomas are present.

lOther malignancies include cancer of the endometrium, ovary, stomach, small intestine, and urinary tract.

lIt may be difficult to distinguish between HNPCC and attenuated FAP in individuals and families who have few adenomatous colonic polyps.

 lInflammatory polyps/ pseudopolyps

lThese lesions develop as by-products of the ulcers that penetrate into the submucosa, leaving islands of adjacent regenerative mucosa.

lAlthough most common in ulcerative colitis, inflammatory polyps may also be seen in Crohn's disease, ischemia, and other ulcerative conditions of the colon.

 lOccurrence of primary extranodal lymphomas in the gastrointestinal tract.

lTwo types include:

lMultiple lymphomatous polyposis.

lMediterranean-type lymphoma.

 l98% of all cancers in large intestine 

lalmost always arise in adenomatous polyps, generally curable by resection