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Hamartomatous Polyposis Syndromes
Atif Zaheer, MD; Michael P. Federle, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Peutz-Jeghers syndrome (PJS)
              • Multiple hamartoma (Cowden) syndrome (MHS); PTEN hamartoma tumor syndrome
              • Juvenile polyposis (JP)
              • Cronkhite-Canada syndrome (CCS)
            • Definitions

              • Spectrum of hereditary and nonhereditary polyposis syndromes characterized by GI tract polyps and other associated lesions

            IMAGING

            • General Features

              • Radiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Staging, Grading, & Classification

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Natural History & Prognosis

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Image Interpretation Pearls

                                      Selected References

                                      1. Wu M et al: Peutz-Jeghers syndrome. StatPearls, 2021
                                      2. Wu ZY et al: Cronkhite-Canada syndrome: from clinical features to treatment. Gastroenterol Rep (Oxf). 8(5):333-42, 2020
                                      3. Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
                                      4. Kobayashi Y et al: A tumor of the uterine cervix with a complex histology in a Peutz-Jeghers syndrome patient with genomic deletion of the STK11 exon 1 region. Future Oncol. 10(2):171-7, 2014
                                      5. Tsai HL et al: Rectal carcinoma in a young female patient with Peutz-Jeghers syndrome: a case report. Med Princ Pract. 23(1):89-91, 2014
                                      6. Lucci-Cordisco E et al: The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A. 161A(11):2777-87, 2013
                                      7. Gammon A et al: Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 23(2):219-31, 2009
                                      8. Hokama A et al: Telescope sign of intussusception in Peutz-Jeghers syndrome. Dig Liver Dis.42(2):153, 2009
                                      9. Huang SC et al: Pediatric juvenile polyposis syndromes: an update. Curr Gastroenterol Rep. 11(3):211-9, 2009
                                      10. Itaba S et al: Education and imaging. Gastrointestinal: solitary Peutz-Jeghers-type hamartoma of the colon. J Gastroenterol Hepatol. 24(3):498, 2009
                                      11. Joshi V: Peutz-Jeghers syndrome: a rare cause of gastric outlet obstruction. Clin Gastroenterol Hepatol. 7(11):A20, 2009
                                      12. Yano T et al: Vascular, polypoid, and other lesions of the small bowel. Best Pract Res Clin Gastroenterol. 23(1):61-74, 2009
                                      13. Cho GJ et al: Peutz-Jeghers syndrome and the hamartomatous polyposis syndromes: radiologic-pathologic correlation. Radiographics. 17(3):785-91, 1997
                                      14. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                      15. Buck JL et al: Peutz-Jeghers syndrome. Radiographics. 12(2):365-78, 1992
                                      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

                                                  • Peutz-Jeghers syndrome (PJS)
                                                  • Multiple hamartoma (Cowden) syndrome (MHS); PTEN hamartoma tumor syndrome
                                                  • Juvenile polyposis (JP)
                                                  • Cronkhite-Canada syndrome (CCS)
                                                • Definitions

                                                  • Spectrum of hereditary and nonhereditary polyposis syndromes characterized by GI tract polyps and other associated lesions

                                                IMAGING

                                                • General Features

                                                  • Radiographic Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Staging, Grading, & Classification

                                                            • Gross Pathologic & Surgical Features

                                                              • Microscopic Features

                                                                CLINICAL ISSUES

                                                                • Presentation

                                                                  • Demographics

                                                                    • Natural History & Prognosis

                                                                      • Treatment

                                                                        DIAGNOSTIC CHECKLIST

                                                                        • Image Interpretation Pearls

                                                                          Selected References

                                                                          1. Wu M et al: Peutz-Jeghers syndrome. StatPearls, 2021
                                                                          2. Wu ZY et al: Cronkhite-Canada syndrome: from clinical features to treatment. Gastroenterol Rep (Oxf). 8(5):333-42, 2020
                                                                          3. Katabathina VS et al: Hereditary gastrointestinal cancer syndromes: role of imaging in screening, diagnosis, and management. Radiographics. 39(5):1280-301, 2019
                                                                          4. Kobayashi Y et al: A tumor of the uterine cervix with a complex histology in a Peutz-Jeghers syndrome patient with genomic deletion of the STK11 exon 1 region. Future Oncol. 10(2):171-7, 2014
                                                                          5. Tsai HL et al: Rectal carcinoma in a young female patient with Peutz-Jeghers syndrome: a case report. Med Princ Pract. 23(1):89-91, 2014
                                                                          6. Lucci-Cordisco E et al: The growing complexity of the intestinal polyposis syndromes. Am J Med Genet A. 161A(11):2777-87, 2013
                                                                          7. Gammon A et al: Hamartomatous polyposis syndromes. Best Pract Res Clin Gastroenterol. 23(2):219-31, 2009
                                                                          8. Hokama A et al: Telescope sign of intussusception in Peutz-Jeghers syndrome. Dig Liver Dis.42(2):153, 2009
                                                                          9. Huang SC et al: Pediatric juvenile polyposis syndromes: an update. Curr Gastroenterol Rep. 11(3):211-9, 2009
                                                                          10. Itaba S et al: Education and imaging. Gastrointestinal: solitary Peutz-Jeghers-type hamartoma of the colon. J Gastroenterol Hepatol. 24(3):498, 2009
                                                                          11. Joshi V: Peutz-Jeghers syndrome: a rare cause of gastric outlet obstruction. Clin Gastroenterol Hepatol. 7(11):A20, 2009
                                                                          12. Yano T et al: Vascular, polypoid, and other lesions of the small bowel. Best Pract Res Clin Gastroenterol. 23(1):61-74, 2009
                                                                          13. Cho GJ et al: Peutz-Jeghers syndrome and the hamartomatous polyposis syndromes: radiologic-pathologic correlation. Radiographics. 17(3):785-91, 1997
                                                                          14. Harned RK et al: The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 164(3):565-71, 1995
                                                                          15. Buck JL et al: Peutz-Jeghers syndrome. Radiographics. 12(2):365-78, 1992