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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
Familial adenomatous polyposis (FAP) syndrome
Synonyms
Gardner (osteomas, thyroid carcinoma, epidermoid cysts, fibromas) and Turcot (medulloblastomas) syndromes with varied phenotypic expressions are part of spectrum
Attenuated FAP, MUTYH-associated polyposis: Delayed polyp growth and fewer polyps
Definitions
Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and ↑ risk for colonic and extracolonic tumors
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Bhurwal A et al: Familial adenomatous polyposis. Am J Med Sci. 359(6):392-3, 2020
Carr S et al: Familial adenomatous polyposis. StatPearls Publishing, 2020
Sanchez-Mete L et al: Desmoid tumors characteristics, clinical management, active surveillance, and description of our FAP case series. J Clin Med. 9(12), 2020
Dinarvand P et al: Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations. Arch Pathol Lab Med. 143(11):1382-98, 2019
Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
Vitellaro M et al: Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis. Br J Surg. 101(5):558-65, 2014
Wood LD et al: Upper GI tract lesions in familial adenomatous polyposis (FAP): enrichment of pyloric gland adenomas and other gastric and duodenal neoplasms. Am J Surg Pathol. 38(3):389-93, 2014
Zhang Y et al: Adenomatous polyposis coli determines sensitivity to the EGFR tyrosine kinase inhibitor gefitinib in colorectal cancer cells. Oncol Rep. 31(4):1811-7, 2014
De Rosa M et al: Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. Dis Colon Rectum. 52(2):268-74, 2009
Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
Macari M et al: Diagnosis of familial adenomatous polyposis using two-dimensional and three-dimensional CT colonography. AJR Am J Roentgenol. 173(1):249-50, 1999
Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
Bartram CI et al: Colonic polyp patterns in familial polyposis. AJR Am J Roentgenol. 142(2):305-8, 1984
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
Familial adenomatous polyposis (FAP) syndrome
Synonyms
Gardner (osteomas, thyroid carcinoma, epidermoid cysts, fibromas) and Turcot (medulloblastomas) syndromes with varied phenotypic expressions are part of spectrum
Attenuated FAP, MUTYH-associated polyposis: Delayed polyp growth and fewer polyps
Definitions
Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and ↑ risk for colonic and extracolonic tumors
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Bhurwal A et al: Familial adenomatous polyposis. Am J Med Sci. 359(6):392-3, 2020
Carr S et al: Familial adenomatous polyposis. StatPearls Publishing, 2020
Sanchez-Mete L et al: Desmoid tumors characteristics, clinical management, active surveillance, and description of our FAP case series. J Clin Med. 9(12), 2020
Dinarvand P et al: Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations. Arch Pathol Lab Med. 143(11):1382-98, 2019
Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
Vitellaro M et al: Risk of desmoid tumours after open and laparoscopic colectomy in patients with familial adenomatous polyposis. Br J Surg. 101(5):558-65, 2014
Wood LD et al: Upper GI tract lesions in familial adenomatous polyposis (FAP): enrichment of pyloric gland adenomas and other gastric and duodenal neoplasms. Am J Surg Pathol. 38(3):389-93, 2014
Zhang Y et al: Adenomatous polyposis coli determines sensitivity to the EGFR tyrosine kinase inhibitor gefitinib in colorectal cancer cells. Oncol Rep. 31(4):1811-7, 2014
De Rosa M et al: Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. Dis Colon Rectum. 52(2):268-74, 2009
Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
Macari M et al: Diagnosis of familial adenomatous polyposis using two-dimensional and three-dimensional CT colonography. AJR Am J Roentgenol. 173(1):249-50, 1999
Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
Bartram CI et al: Colonic polyp patterns in familial polyposis. AJR Am J Roentgenol. 142(2):305-8, 1984
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