familial adenomatous polyposis
MIM.175100 5q21-q22
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FAP is an autosomal dominant tumor predisposition syndrome characterized by numerous colorectal adenomas, which will eventually progress to adenocarcinoma. Without prophylactic colectomy, FAP will inevitably lead to colorectal cancer at a relatively young age.
Patients with FAP run the risk of developing extracolonic manifestations, and the duodenum is the main site for these (pre-) malignant developments (see duodenal FAP).
Synopsis
congenital hypertrophy of retinal pigment epithelium (CHRPE)
supernumerary teeth
unerupted teeth
dental caries
odontomas
mammary fibrosis
multiple colonic adenomatous polyps
multiple gastric polyps
multiple duodenal polyps
mesenteric fibromatosis
skull osteomas, especially involving the mandibular angle
endosteal and exosteal osteomas
epidermoid inclusion cysts
fibromas
lipomas
lipofibromas
increased skin pigmentation
keloids
tumors
- adrenal carcinoma
- thyroid papillary carcinoma
- periampullary carcinoma
- fibrosarcoma
- colon carcinoma
- gastric adenocarcinoma
- medulloblastoma
- hepatoblastoma
- intestinal carcinoid tumor
- desmoid fibromatosis
- astrocytoma
References
Fodde R, Smits R. Disease model: familial adenomatous polyposis. Trends Mol Med. 2001 Aug;7(8):369-73. PMID: #11516998#
Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet. 2001 Apr;10(7):721-33. PMID: #11257105#