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Review
. 2019 Jan-Feb;23(1):159-164.
doi: 10.4103/ijem.IJEM_252_18.

Endocrine Manifestations of Von Hippel-Landau Disease

Roma Pradhan  1 , Nelson George  2 , Kaushik Mandal  3 , Amit Agarwal  2 , Sushil K Gupta  4
Affiliations
Review

Endocrine Manifestations of Von Hippel-Landau Disease

Roma Pradhan et al. Indian J Endocrinol Metab. 2019 Jan-Feb.

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by various endocrine, nonendocrine, benign, and malignant tumors in various organs. VHL tumor suppressor gene, located on short arm of chromosome 3 is responsible for this. Pheochromocytoma (PCC) is one of the important endocrine manifestations that needs to be ruled out in case of VHL suspicion. In this review, we summarize the endocrine manifestations of VHL disease and their management while giving case history of five such cases.

Keywords: Neuroendocrine tumor; pheochromocytoma; von Hippel–Lindau Disease.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
(a) CECT of case 2 showing bilateral adrenal pheochromocytomas. (b) Cut section of the same patient showing normal adrenal tissue attached to the tumor
Figure 2
Figure 2
(a) CECT abdomen showed enlarged right adrenal gland heterogeneous (red) Pancreatic head solid mass situated posteriorly (blue) and Cyst in pancreatic tail (green), (b) Right Adrenalectomy and Pancreaticoduodenectomy specimen of the same patient
See this image and copyright information in PMC

References

    1. von Hippel E. Die anatomische Grundlage der von mir beschriebenen ‘sehr seltenen Erkrankung der Netzhaut’. Graefes Arch Ophthalmol. 1911;79:350–77.
    1. Lindau A. Studienuber Kleinhirncysten.Bau, Pathogenese und Bezoejimgemzur Angiomatosis retinae. Acta Pathol Microbiol Scand. 1926;(Suppl 1):1–128.
    1. Woodward ER, Buchberger A, Clifford SC, Hurst LD, Affara NA, Maher ER. Comparative sequence analysis of the VHL tumor suppressor gene. Genomics. 2000;65:253–65. - PubMed
    1. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993;260:1317–20. - PubMed
    1. Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, et al. The tumor suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature. 1999;399:271–5. - PubMed