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Open AccessArticle

Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene

Service d’Endocrinologie et Diabète, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France
Institut des Neurosciences Cellulaires et Intégratives, CNRS (UPR 3212), 67000 Strasbourg, France
Laboratory of Molecular Biology, Hospital la Conception, Aix-Marseille Université, INSERM, MMG, 13005 Marseille, France
Laboratoire d’Anatomie et Cytologie Pathologique, Hôpital Nord, Chemin des Bourrely, 13915 Marseille, CEDEX 20, France
Department of Endocrinology, Conception Hospital, Centre de Référence des Maladies Rares Hypophysaires HYPO, INSERM U1251, Marseille Medical Genetics, Aix-Marseille Université and AP-HM, 13005 Marseille, France
Oncologie Medical Department, IPC, 13009 Marseille, France
Author to whom correspondence should be addressed.
J. Clin. Med. 2018, 7(6), 116;
Received: 30 March 2018 / Revised: 1 May 2018 / Accepted: 17 May 2018 / Published: 23 May 2018
(This article belongs to the Special Issue Pheochromocytoma and Paraganglioma: Research Update)
We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed tomography (SPECT/CT) and 2-deoxy-2-[fluorine-18]fluoro-d-glucose (FDG) positron emission tomography/computed tomography (PET/CT) imaging showing isolated tracer-uptake by a 2 cm tumor close to the costovertebral angle of the third thoracic vertebra. Thoracic surgery led to normalization of normetanephrine levels. Histological findings were consistent with the presence of a paraganglioma. Mutations in SDHA, SDHB, SDHC, SDHD, RET, SDHAF2, TMEM127, MAX, NF1, FH, MDH2, and EPAS1 were absent, but a heterozygous missense mutation, c.311G > T, was found in exon 1 of the von Hippel-Lindau gene, VHL, resulting in a glycine to valine substitution in the VHL protein at position 104, p.Gly104Val. This same mutation was found in both the mother and the 17-year old sister in whom a small retinal hemangioblastoma was also found. We diagnose an unusual functional mediastinal paraganglioma in this young patient with a germline VHL gene mutation, a mutation previously described as inducing polycythemia and/or pheochromocytoma but not paraganglioma or retinal hemangioblastoma. View Full-Text
Keywords: hemangioblastoma; hypertension; paraganglioma; von Hippel-Lindau disease hemangioblastoma; hypertension; paraganglioma; von Hippel-Lindau disease
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Bahougne, T.; Romanet, P.; Mohamed, A.; Caselles, K.; Cuny, T.; Barlier, A.; Niccoli, P. Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene. J. Clin. Med. 2018, 7, 116.

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