The importance of genetic study and long-term management in patients with bilateral pheochromocytomas

Dhiya Eddine Bellarbi, Farida Chentli


Tumors secreting catecholamines, such as pheochromocytomas and paragangliomas, are rare and life-threatening, due to their complications. They can be sporadic or occur in genetic syndromes, such as von Hippel-Lindau in which pheochromocytomas are observed in 10 to 20%. We report a case of a 42 years old male, who was sent in 2016 to our department for neurological symptoms related to cerebellar and central vestibular syndromes.  His medical history revealed that at 8 years old he was operated for a symptomatic bilateral pheochromocytoma discovered by adrenergic symptoms and high blood pressure. Cerebral MRI showed intra- and extra-axial, supra- and infratentorial lesions causing supratentorial hydrocephalus associated with leptomeningeal dissemination deemed to be hemangioblastomas. One year later the patient started complaining of chronic diarrhea. The abdominal CT revealed three pancreatic tumors with radiological signs of pancreatic neuroendocrine tumors (PNETs) and a 12 mm mesenteric nodule presenting as a homogenously and typical for NET. The largest PNET had intensive fixation on octreotide scintigraphy. The association of pheochromocytomas, hemangioblastoma and pancreatic neuroendocrine tumors highlighted the diagnosis of VHL syndrome. The family history proved positive in a sibling with bilateral pheochromocytoma in infancy, retinal hemangioblastomas and cerebral hemangioblastoma. Genetic testing would have been useful, but in our case, it was lacking due to poor socio-economic conditions of the patient and absence of genetic testing in public hospitals.


pheochromocytoma; pancreatic neuroendocrine tumors; von Hippel-Lindau

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DeLellis R, Lloyd RV, Heitz PU, Eng C. World Health Organization classification of tumors: pathology and genetics of tumors of endocrine organs. 3th Edition, volume 8, Lyon, France: IARC Press; 2004.

Von Hippel-Lindau Syndrome - Phenotype-Gene Relationships [ available at 31.12.2019]

Neumann HP, Wiestler OD. Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 1991; 337(8749):1052–1054.

Maher ER, Webster AR, Richards FM, et al. Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 1996; 33(4):328–332.

Callender GG, Rich T, Lee JE, Perrier ND, Grubbs EG. Chapter 13 Pheochromocytoma In: Neuroendocrine tumors, Humana Press, 2011; 13:225.

Erlic Z, Neumann HPH. Familial pheochromocytoma. Hormones 2009; 8(1):29–38.

Pczkowska M, Erlic Z, Hoffmann MM, et al. Impact of screening kindreds for SDHDpCys11X as a common mutation associated with paraganglioma syndrome type 1. J Clin Endocrinol Metab 2008; 93(12):4818–4825.

Lu Y, Lu J, Liu Q, Niu J, Zhang SM, Wu QY. A c.464T>A mutation in VHL gene in a Chinese family with VHL syndrome. J Neurooncol 2013; 111(3):313–318.

Clark PE, Cookson MS. The von Hippel-Lindau gene: turning discovery into therapy. Cancer 2008; 113(Suppl 7):1768–1778.

Guo CG, Smith AK, Pavlovich CP. Familial forms of renal cell carcinoma and associated syndromes In: Nonneoplastic disease presenting as a renal lesion, 2016:6-81.

Chawla S, Mekaroonkamol P, Willingham FF. Chapter 3 Less common solid tumors of pancreas. Pancreatic masses - Advances in diagnosis and therapy, 2016:3-21.

Ridtitid W, Al-Haddad M. Cystic Lesions of the Pancreas In: Pancreatic masses - Advances in diagnosis and therapy, 2016:41-59.

Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003; 361(9374):2059–2067.

U.S. National Library of medicine - Von Hippel-Lindau syndrome [ available at 12.09.2019]

Piribauer M, Czech T, Dieckmann K, Birner P, Hainfellner JA, Prayer D, et al. Stabilization of a progressive hemangioblastoma under treatment with thalidomide. J Neurooncol 2004; 66:295–299.

Oudard S, Elaidi R, Brizard M. Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group. Oncotarget 2016; 7(51):85306–85317.

Derweesh IH, Raheem OA, Shabaik A. Chapter 5. Conventional Forms of Renal Neoplasia In: The Kidney: A Comprehensive Guide to Pathologic Diagnosis and Management. Springer 2016:5-67.

Binderup ML, Jensen AM, Budtz-Jørgensen E, Bisgaard ML. Survival and causes of death in patients with von Hippel-Lindau disease. J Med Genet 2017; 54(1):11-18.


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