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

Abstract : 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.
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Contributor : Valérie Gall Connect in order to contact the contributor
Submitted on : Wednesday, January 30, 2019 - 3:11:26 PM
Last modification on : Friday, September 2, 2022 - 3:07:00 PM


  • HAL Id : hal-02000319, version 1



Thibault Bahougne, Pauline Romanet, Amira Mohamed, Kevin Caselles, Thomas Cuny, et al.. Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene. Journal of Clinical Medicine, 2018, 7 (6). ⟨hal-02000319⟩



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