link
Bookmarks
Familial Polyposis and Gardner Syndrome
Michael P. Federle, MD, FACR
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
23
1
3

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Familial adenomatous polyposis (FAP) syndrome
              • Gardner syndrome may have the same genetic mutation
                • Distinction from FAP is largely semantic
            • Definitions

              • Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and by increased risk for colonic and extracolonic tumors

            IMAGING

            • General Features

              • Radiographic Findings

                • CT 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. 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
                                        2. 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
                                        3. 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
                                        4. 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
                                        5. Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
                                        6. Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
                                        7. Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
                                        8. 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
                                        9. Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
                                        10. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                        11. Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
                                        12. Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
                                        13. Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
                                        14. Bartram CI et al: Colonic polyp patterns in familial polyposis. AJR Am J Roentgenol. 142(2):305-8, 1984
                                        Related Anatomy
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Familial adenomatous polyposis (FAP) syndrome
                                                    • Gardner syndrome may have the same genetic mutation
                                                      • Distinction from FAP is largely semantic
                                                  • Definitions

                                                    • Autosomal dominant genetic disorder characterized by formation of innumerable colonic adenomatous polyps at young age and by increased risk for colonic and extracolonic tumors

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • CT 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. 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
                                                                              2. 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
                                                                              3. 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
                                                                              4. 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
                                                                              5. Herráiz M et al: Recognition and management of hereditary colorectal cancer syndromes. Rev Esp Enferm Dig. 101(2):125-32, 2009
                                                                              6. Mavrogiannis LA et al: Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis. Hum Genet. 125(3):333, 2009
                                                                              7. Spigelman AD: Extracolonic polyposis in familial adenomatous polyposis: so near and yet so far. Gut. 53(3):322, 2004
                                                                              8. 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
                                                                              9. Hizawa K et al: Desmoid tumors in familial adenomatous polyposis/Gardner's syndrome. J Clin Gastroenterol. 25(1):334-7, 1997
                                                                              10. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                                                              11. Rustgi AK: Hereditary gastrointestinal polyposis and nonpolyposis syndromes. N Engl J Med. 331(25):1694-702, 1994
                                                                              12. Casillas J et al: Imaging of intra- and extraabdominal desmoid tumors. Radiographics. 11(6):959-68, 1991
                                                                              13. Harned RK et al: Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 156(3):481-5, 1991
                                                                              14. Bartram CI et al: Colonic polyp patterns in familial polyposis. AJR Am J Roentgenol. 142(2):305-8, 1984