Tumors in von Hippel–Lindau syndrome: From head to toe—comprehensive state-of-the-art review

Dhakshinamoorthy Ganeshan, Christine O. Menias, Perry J. Pickhardt, Kumar Sandrasegaran, Meghan G. Lubner, Preetha Ramalingam, Sanjeev Bhalla

Research output: Contribution to journalReview article

6 Citations (Scopus)

Abstract

Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3. Patients with VHL may develop multiple benign and malignant tumors involving various organ systems, including retinal hemangioblastomas (HBs), central nervous system (CNS) HBs, endolymphatic sac tumors, pancreatic neuroendocrine tumors, pancreatic cystadenomas, pancreatic cysts, clear cell renal cell carcinomas, renal cysts, pheochromocytomas, paragangliomas, and epididymal and broad ligament cystadenomas. The VHL/hypoxia-inducible factor pathway is believed to play a key role in the pathogenesis of VHL-related tumors. The diagnosis of VHL can be made clinically when the characteristic clinical history and findings have manifested, such as the presence of two or more CNS HBs. Genetic testing for heterozygous germline VHL mutation may also be used to confirm the diagnosis of VHL. Imaging plays an important role in the diagnosis and surveillance of patients with VHL. Familiarity with the clinical and imaging manifestations of the various VHL-related tumors is important for early detection and guiding appropriate management. The purpose of this article is to discuss the molecular cytogenetics and clinical manifestations of VHL, review the characteristic multimodality imaging features of the various VHL-related tumors affecting multiple organ systems, and discuss the latest advances in management of VHL, including current recommendations for surveillance and screening.

Original languageEnglish (US)
Pages (from-to)849-866
Number of pages18
JournalRadiographics
Volume38
Issue number3
DOIs
StatePublished - May 1 2018

Fingerprint

Head
Neoplasms
Hemangioblastoma
Cystadenoma
Central Nervous System
Broad Ligament
Pancreatic Cyst
Endolymphatic Sac
Paraganglioma
Inborn Genetic Diseases
Chromosomes, Human, Pair 3
Neuroendocrine Tumors
Germ-Line Mutation
Genetic Testing
Pheochromocytoma
Renal Cell Carcinoma
Cytogenetics
Cysts
Kidney
Mutation

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Cite this

Ganeshan, D., Menias, C. O., Pickhardt, P. J., Sandrasegaran, K., Lubner, M. G., Ramalingam, P., & Bhalla, S. (2018). Tumors in von Hippel–Lindau syndrome: From head to toe—comprehensive state-of-the-art review. Radiographics, 38(3), 849-866. https://doi.org/10.1148/rg.2018170156

Tumors in von Hippel–Lindau syndrome : From head to toe—comprehensive state-of-the-art review. / Ganeshan, Dhakshinamoorthy; Menias, Christine O.; Pickhardt, Perry J.; Sandrasegaran, Kumar; Lubner, Meghan G.; Ramalingam, Preetha; Bhalla, Sanjeev.

In: Radiographics, Vol. 38, No. 3, 01.05.2018, p. 849-866.

Research output: Contribution to journalReview article

Ganeshan, D, Menias, CO, Pickhardt, PJ, Sandrasegaran, K, Lubner, MG, Ramalingam, P & Bhalla, S 2018, 'Tumors in von Hippel–Lindau syndrome: From head to toe—comprehensive state-of-the-art review', Radiographics, vol. 38, no. 3, pp. 849-866. https://doi.org/10.1148/rg.2018170156
Ganeshan, Dhakshinamoorthy ; Menias, Christine O. ; Pickhardt, Perry J. ; Sandrasegaran, Kumar ; Lubner, Meghan G. ; Ramalingam, Preetha ; Bhalla, Sanjeev. / Tumors in von Hippel–Lindau syndrome : From head to toe—comprehensive state-of-the-art review. In: Radiographics. 2018 ; Vol. 38, No. 3. pp. 849-866.
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