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von Hippel-Lindau Disease
Alessandro Furlan, 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 affecting several organs and associated with multiple neoplasms

            IMAGING

            • General Features

              • 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

                                      Selected References

                                      1. Gossage L et al: VHL, the story of a tumour suppressor gene. Nat Rev Cancer. 15(1):55-64, 2015
                                      2. Wood CG 3rd et al: CT and MR imaging for evaluation of cystic renal lesions and diseases. Radiographics. 35(1):125-41, 2015
                                      3. 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
                                      4. Maher ER et al: von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 19(6):617-23, 2011
                                      5. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                      6. Meister M et al: Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease. Clin Radiol. 64(6):589-600, 2009
                                      7. Leung RS et al: Imaging features of von Hippel–Lindau disease. RadioGraphics. 28(1):65-79, 2008
                                      8. 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
                                      9. 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
                                      10. 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
                                      11. 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
                                      12. Herring JC et al: Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol. 165(3):777-81, 2001
                                      13. 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
                                      14. Choyke PL et al: von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 194(3):629-42, 1995
                                      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 affecting several organs and associated with multiple neoplasms

                                                IMAGING

                                                • General Features

                                                  • 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

                                                                          Selected References

                                                                          1. Gossage L et al: VHL, the story of a tumour suppressor gene. Nat Rev Cancer. 15(1):55-64, 2015
                                                                          2. Wood CG 3rd et al: CT and MR imaging for evaluation of cystic renal lesions and diseases. Radiographics. 35(1):125-41, 2015
                                                                          3. 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
                                                                          4. Maher ER et al: von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 19(6):617-23, 2011
                                                                          5. Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
                                                                          6. Meister M et al: Radiological evaluation, management, and surveillance of renal masses in Von Hippel-Lindau disease. Clin Radiol. 64(6):589-600, 2009
                                                                          7. Leung RS et al: Imaging features of von Hippel–Lindau disease. RadioGraphics. 28(1):65-79, 2008
                                                                          8. 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
                                                                          9. 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
                                                                          10. 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
                                                                          11. 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
                                                                          12. Herring JC et al: Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol. 165(3):777-81, 2001
                                                                          13. 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
                                                                          14. Choyke PL et al: von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology. 194(3):629-42, 1995