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Volume 15
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10.3390/life15111649
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Article

Familial von Hippel–Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations

by
Claudiu Matei
1,2,
Ioana Boeras
3,*,
Dan Orga Dumitriu
4,5,
Cosmin Mutu
4,5,
Adriana Popescu
4,5,
Mihai Gabriel Cucu
6,7,
Alexandru Calota-Dobrescu
7,
Bogdan Fetica
8 and
Diter Atasie
2,4
1
Department of Clinical Surgical, Faculty of Medicine, “Lucian Blaga” University of Sibiu, 550024 Sibiu, Romania
2
Medlife Polisano Hospital Sibiu, 550024 Sibiu, Romania
3
Biology and Ecology Research Center, Faculty of Sciences, “Lucian Blaga” University of Sibiu, 550012 Sibiu, Romania
4
Department of Clinical Medicine, Faculty of Medicine, “Lucian Blaga” University of Sibiu, 550024 Sibiu, Romania
5
County Emergency Clinical Hospital Sibiu, 550025 Sibiu, Romania
6
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania
7
Regional Centre of Medical Genetics, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
8
PATHOS Molecular Pathology Laboratory, Oncological Institute “Prof. Dr. Ion Chiricuta” Cluj-Napoca, 400015 Cluj-Napoca, Romania
*
Author to whom correspondence should be addressed.
Life 2025, 15(11), 1649; https://doi.org/10.3390/life15111649 (registering DOI)
Submission received: 18 September 2025 / Revised: 19 October 2025 / Accepted: 21 October 2025 / Published: 22 October 2025
(This article belongs to the Section Medical Research)
Versions Notes

Abstract

Von Hippel-Lindau (VHL) is a rare genetic disorder caused by mutations in the VHL gene on chromosome 3. The disease is associated with increased incidence of neoplasia. The most common manifestations of the disease are hemangioblastomas of the CNS and spinal cord, followed by renal cell carcinomas (RCC), pancreatic tumors, pheocromocytomas, endolymphatic sac tumors, and broad ligament or epididymal cystadenomas. Due to low incidence of the disease, information about its manifestation and genetic makeup has been slow to be gathered. Herein, we present three patients suffering from VHL, all part of the same family: patient one is the father; patient two is the daughter; and patient three is the nephew of the father, cousin to the daughter. Patients and their samples were investigated by magnetic resonance imaging, immunohistochemistry and genetic testing. Results show a tumor process in the left cerebellar hemisphere of the first patient which was successfully removed. The second patient presents with cervical medullary hemangioblastoma which was also successfully removed. The third patient had a tumor formation located at the craniospinal junction, at the level of the posterior bulb which was also treated. Genetic analysis showed patients one and two presented mutations in the VHL gene, confirming the VHL diagnosis. While the cases presented here follow the general lines for VHL disease, patients are related to each other, present tumors of the nervous system and mutations in the VHL gene, their particularities of presentation and manifestation bring new insights into this rare genetic disease.
Keywords: Von-Hippel Lindau; VHL; hemangioblastoma; genetic disease Von-Hippel Lindau; VHL; hemangioblastoma; genetic disease

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MDPI and ACS Style

Matei, C.; Boeras, I.; Orga Dumitriu, D.; Mutu, C.; Popescu, A.; Cucu, M.G.; Calota-Dobrescu, A.; Fetica, B.; Atasie, D. Familial von Hippel–Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations. Life 2025, 15, 1649. https://doi.org/10.3390/life15111649

AMA Style

Matei C, Boeras I, Orga Dumitriu D, Mutu C, Popescu A, Cucu MG, Calota-Dobrescu A, Fetica B, Atasie D. Familial von Hippel–Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations. Life. 2025; 15(11):1649. https://doi.org/10.3390/life15111649

Chicago/Turabian Style

Matei, Claudiu, Ioana Boeras, Dan Orga Dumitriu, Cosmin Mutu, Adriana Popescu, Mihai Gabriel Cucu, Alexandru Calota-Dobrescu, Bogdan Fetica, and Diter Atasie. 2025. "Familial von Hippel–Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations" Life 15, no. 11: 1649. https://doi.org/10.3390/life15111649

APA Style

Matei, C., Boeras, I., Orga Dumitriu, D., Mutu, C., Popescu, A., Cucu, M. G., Calota-Dobrescu, A., Fetica, B., & Atasie, D. (2025). Familial von Hippel–Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations. Life, 15(11), 1649. https://doi.org/10.3390/life15111649

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