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Open AccessArticle

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

1
Service d’Endocrinologie et Diabète, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France
2
Institut des Neurosciences Cellulaires et Intégratives, CNRS (UPR 3212), 67000 Strasbourg, France
3
Laboratory of Molecular Biology, Hospital la Conception, Aix-Marseille Université, INSERM, MMG, 13005 Marseille, France
4
Laboratoire d’Anatomie et Cytologie Pathologique, Hôpital Nord, Chemin des Bourrely, 13915 Marseille, CEDEX 20, France
5
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
6
Oncologie Medical Department, IPC, 13009 Marseille, France
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2018, 7(6), 116; https://doi.org/10.3390/jcm7060116
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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