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von Hippel-Lindau Disease
Alessandro Furlan, MD; Mark D. Sugi, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • von Hippel-Lindau (VHL)
            • Definitions

              • Hereditary, autosomal dominant disease with high penetrance and multiorgan, benign and malignant neoplasms

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          Selected References

                                          1. Hos D et al: Von Hippel Lindau disease. J Pediatr. 209:252, 2019
                                          2. Shell J et al: The utility of 68 gallium-DOTATATE PET/CT in the detection of von Hippel-Lindau disease associated tumors. Eur J Radiol. 112:130-5, 2019
                                          3. Ganeshan D et al: Tumors in von Hippel-Lindau syndrome: from head to toe-Comprehensive state-of-the-art review. Radiographics. 38(3):849-66, 2018
                                          4. Papadakis GZ et al: Epididymal cystadenomas in von Hippel-Lindau disease showing increased activity on 68Ga DOTATATE PET/CT. Clin Nucl Med. 41(10):781-2, 2016
                                          5. Gossage L et al: VHL, the story of a tumour suppressor gene. Nat Rev Cancer. 15(1):55-64, 2015
                                          6. Wood CG 3rd et al: CT and MR imaging for evaluation of cystic renal lesions and diseases. Radiographics. 35(1):125-41, 2015
                                          7. Yang B et al: Probe ablation as salvage therapy for renal tumors in von Hippel-Lindau patients: the Cleveland Clinic experience with 3 years follow-up. Urol Oncol. 31(5):686-92, 2013
                                          8. Maher ER et al: von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 19(6):617-23, 2011
                                          9. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                          10. Meister M et al: Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease. Clin Radiol. 64(6):589-600, 2009
                                          11. Leung RS et al: Imaging features of von Hippel–Lindau disease. RadioGraphics. 28(1):65-79, 2008
                                          12. Shehata BM et al: Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol. 15(3):165-71, 2008
                                          13. Duffey BG et al: The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease. J Urol. 172(1):63-5, 2004
                                          14. Shuin T et al: Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease. Int J Clin Oncol. 9(4):283-7, 2004
                                          15. Truong LD et al: Renal cystic neoplasms and renal neoplasms associated with cystic renal diseases: pathogenetic and molecular links. Adv Anat Pathol. 10(3):135-59, 2003
                                          16. Herring JC et al: Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol. 165(3):777-81, 2001
                                          17. Neumann HP et al: Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol. 160(4):1248-54, 1998
                                          18. Choyke PL et al: von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 194(3):629-42, 1995
                                          19. Gersell DJ et al: Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease. Am J Surg Pathol. 12(2):145-9, 1988
                                          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

                                                      • von Hippel-Lindau (VHL)
                                                    • Definitions

                                                      • Hereditary, autosomal dominant disease with high penetrance and multiorgan, benign and malignant neoplasms

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Ultrasonographic Findings

                                                              • Imaging Recommendations

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Staging, Grading, & Classification

                                                                      • Gross Pathologic & Surgical Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  Selected References

                                                                                  1. Hos D et al: Von Hippel Lindau disease. J Pediatr. 209:252, 2019
                                                                                  2. Shell J et al: The utility of 68 gallium-DOTATATE PET/CT in the detection of von Hippel-Lindau disease associated tumors. Eur J Radiol. 112:130-5, 2019
                                                                                  3. Ganeshan D et al: Tumors in von Hippel-Lindau syndrome: from head to toe-Comprehensive state-of-the-art review. Radiographics. 38(3):849-66, 2018
                                                                                  4. Papadakis GZ et al: Epididymal cystadenomas in von Hippel-Lindau disease showing increased activity on 68Ga DOTATATE PET/CT. Clin Nucl Med. 41(10):781-2, 2016
                                                                                  5. Gossage L et al: VHL, the story of a tumour suppressor gene. Nat Rev Cancer. 15(1):55-64, 2015
                                                                                  6. Wood CG 3rd et al: CT and MR imaging for evaluation of cystic renal lesions and diseases. Radiographics. 35(1):125-41, 2015
                                                                                  7. Yang B et al: Probe ablation as salvage therapy for renal tumors in von Hippel-Lindau patients: the Cleveland Clinic experience with 3 years follow-up. Urol Oncol. 31(5):686-92, 2013
                                                                                  8. Maher ER et al: von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 19(6):617-23, 2011
                                                                                  9. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                                                                  10. Meister M et al: Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease. Clin Radiol. 64(6):589-600, 2009
                                                                                  11. Leung RS et al: Imaging features of von Hippel–Lindau disease. RadioGraphics. 28(1):65-79, 2008
                                                                                  12. Shehata BM et al: Von Hippel-Lindau (VHL) disease: an update on the clinico-pathologic and genetic aspects. Adv Anat Pathol. 15(3):165-71, 2008
                                                                                  13. Duffey BG et al: The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease. J Urol. 172(1):63-5, 2004
                                                                                  14. Shuin T et al: Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease. Int J Clin Oncol. 9(4):283-7, 2004
                                                                                  15. Truong LD et al: Renal cystic neoplasms and renal neoplasms associated with cystic renal diseases: pathogenetic and molecular links. Adv Anat Pathol. 10(3):135-59, 2003
                                                                                  16. Herring JC et al: Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol. 165(3):777-81, 2001
                                                                                  17. Neumann HP et al: Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol. 160(4):1248-54, 1998
                                                                                  18. Choyke PL et al: von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 194(3):629-42, 1995
                                                                                  19. Gersell DJ et al: Papillary cystadenoma of the mesosalpinx in von Hippel-Lindau disease. Am J Surg Pathol. 12(2):145-9, 1988