CRS

Question 1

Lynch Syndrome

Answer 1

Lynch syndrome is an autosomal dominant condition characterized by a combination of cancer in the colon, female genital tract (ovaries, endometrium, and uterus), and occasionally other sites. Lynch syndrome is defined by the Amsterdam criteria (3 relatives with colorectal cancer (one is a first-degree relative of the other two); ≥2 generations are involved, and ≥1 case appears before 50 years of age). Colonic adenomas can occur by the third and fourth decades, with cancer appearing by the fifth decade (mean 40-45 years of age). Patients do not develop a “carpet” of polyps as they do in polyposis syndromes. The mutation is a DNA mismatch repair defect.

Question 2

Amsterdam Criteria

Answer 2

Amsterdam criteria

• 3 relatives with colorectal cancer (one is a first-degree relative of the other two)
• ≥2 generations are involved
• ≥1 case appears before 50 years of age).

Question 3

Cowden syndrome

Answer 3

Cowden’s syndrome is an autosomal dominant juvenile polyposis syndrome (average age at diagnosis is 18 years) characterized by colonic hamartomous polyposis and is associated with breast and thyroid cancer. Their risk for colorectal and other GI cancers is 15% by age 35 and 65% by age 65).

Question 4

Familial polyposis coli (familial adenomatous polyposis, or FAP)

Answer 4

Familial polyposis coli (familial adenomatous polyposis, or FAP) is characterized by numerous colonic polyps and development of cancer by age 40; it is not associated with uterine cancer.

Question 5

Turcot syndrome

Answer 5

Turcot syndrome is a colonic polyposis syndrome associated with brain tumors.

Question 6

FRIENDS fistula

Answer 6

Fistulas are abnormal communications between two epithelialized surfaces. The causes of enterocutaneous fistulas can be remembered using the mnemonic FRIEND: Foreign body, Radiation, Inflammation/Infection/Inflammatory bowel disease, Epithelialization, Neoplasm, and Distal obstruction.