Extra-colonic manifestations

Lifetime CRC or GI malignancy risks

Extra-gastrointestinal malignancy

Non-neoplastic Polyps

Inflammatory “cap” polyposis







Increased risk of CRC (mostly R-sided)


Adenomatous polyposis

Classical Familial adenomatous

polyposis (FAP)

・ Upper GI polyposis: gastric FGP, duodenum and ampullary adenomas /adenocarcinomas

・ Desmoids tumors, osteomas , epidermoid cysts, dental abnormalities, CHRPE

100% CRC (left-sided predominance)

Duodenal and periampullary cancer (4% - 12%)

Thyroid cancer (1% - 2%), hepatoblastoma (1% - 2%), medulloblastoma (<1%)

Attenuated FAP (AFAP)

・ Upper GI polyposis: gastric FGP, duodenum and ampullary adenomas /adenocarcinomas

・ Usually lack the extra-intestinal manifestations of classic FAP

80% - 100% CRC (usually right-sided)

Duodenal and periampullary cancer (4% - 12%)

Thyroid cancer (1% - 2%)

MUTYH- associated

polyposis (MAP)

・ Gastric FGP, duodenal adenomas/adenocarcinomas

・ CHRPE, osteomas,and Muir-Torre phenotype with sebaceous gland tumors

80% - 100% CRC (2/3 right sided)

Duodenal cancer (4%)

Increased risk of ovarian, bladder, skin, and breast cancer

Hamartomatous polyposis

Juvenile polyposis syndrome (JPS)

・ Pulmonary arterio-venous malformations

・ Mucocutaneous telangiectasias

CRC (68%), gastric (21%), small bowel, and pancreatic cancer

No increased risk in extra-GI site

Peutz-Jeghers syndrome

・ Mucocutaneous melanosis (lips, buccal mucosa)

CRC (39%), gastric (29%), small bowel (13%), pancreatic cancer (36%)

Breast (54%), lung (15%), ovarianor testicular cancer; ovarian sex-cord tumors with annular tubules (SCTAT), cervical adenoma malignum, male Sertoli-cell testicular tumors

Cowden syndrome

・ Mucocutaneous lesions (facial trichilemmomas, acral keratosis, papillomatous papules), LDD, macrocephaly, mental retardation

・ Glycogenic acanthosis of the esophagus


Breast (50%), thyroid (10%), endometrial, ovarian or cervical cancer, renal cell carcinoma, bladder transitional carcinoma

Cronkhite-Canada syndrome

Unique dermatologic triad: alopecia, skin hyperpigmentation, onychodystrophy

CRC (mostly left sided)

Gastric cancer