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Gastrointestinal
Diagnosis
Colon
Malignant Neoplasms
Familial Adenomatous Polyposis
Familial Adenomatous Polyposis
Atif Zaheer, MD; Michael P. Federle, MD, FACR
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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

                                          1. Bhurwal A et al: Familial adenomatous polyposis. Am J Med Sci. 359(6):392-3, 2020
                                          2. Carr S et al: Familial adenomatous polyposis. StatPearls Publishing, 2020
                                          3. 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
                                          4. Dinarvand P et al: Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations. Arch Pathol Lab Med. 143(11):1382-98, 2019
                                          5. Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
                                          6. 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
                                          7. 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
                                          8. 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
                                          9. 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
                                          10. Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
                                          11. Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
                                          12. Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
                                          13. 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
                                          14. Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
                                          15. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                          16. Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
                                          17. Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
                                          18. Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
                                          19. 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

                                                                                  1. Bhurwal A et al: Familial adenomatous polyposis. Am J Med Sci. 359(6):392-3, 2020
                                                                                  2. Carr S et al: Familial adenomatous polyposis. StatPearls Publishing, 2020
                                                                                  3. 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
                                                                                  4. Dinarvand P et al: Familial adenomatous polyposis syndrome: an update and review of extraintestinal manifestations. Arch Pathol Lab Med. 143(11):1382-98, 2019
                                                                                  5. Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
                                                                                  6. 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
                                                                                  7. 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
                                                                                  8. 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
                                                                                  9. 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
                                                                                  10. Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
                                                                                  11. Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
                                                                                  12. Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
                                                                                  13. 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
                                                                                  14. Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
                                                                                  15. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                                                                  16. Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
                                                                                  17. Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
                                                                                  18. Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
                                                                                  19. Bartram CI et al: Colonic polyp patterns in familial polyposis. AJR Am J Roentgenol. 142(2):305-8, 1984