Natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease
| Autor: | Myriam Thys, Aimée Redondo, Fabrice Parker, P. Decq, Philippe David, Patrick François, Nozar Aghakhani, Rémy Van Effenterre, Stéphane Richard, S. Giraud, Marc Tadie, Catherine Lacroix, Evelyne Emery, Ranjeev Bhangoo, Matthieu Peyre |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty von Hippel-Lindau Disease Adolescent Supratentorial region Central nervous system disease Cohort Studies Young Adult Hemangioblastoma medicine Humans Cyst Genetic Predisposition to Disease Von Hippel–Lindau disease Pituitary stalk business.industry Vascular disease Middle Aged medicine.disease Natural history medicine.anatomical_structure Surgery Female Neurology (clinical) business |
| Zdroj: | Neurosurgery. 67(3) |
| ISSN: | 1524-4040 |
| Popis: | Background Supratentorial hemangioblastomas are rare lesions, occurring either sporadically or in von Hippel-Lindau disease. Objective Following recent advances in our understanding of the natural history of von Hippel-Lindau-associated cerebellar and spinal hemangioblastomas, we conducted a study of the natural history of supratentorial hemangioblastomas in von Hippel-Lindau disease. Methods We reviewed a series of 18 supratentorial hemangioblastomas in 13 patients with von Hippel-Lindau disease. Clinical, genetic, and serial imaging data and operative records were analyzed. Results Hemangioblastomas were most commonly seen in the temporal lobe. Only 6 tumors had a cyst at diagnosis or during follow-up, and only 6 patients had associated symptoms at presentation or during follow-up. The most frequent clinical presentations were intracranial hypertension and visual loss. Of 14 tumors with documented serial imaging, 13 demonstrated tumor growth. Rates and patterns of tumor growth were unique to each patient. The mechanism of cyst formation described in other locations was also demonstrated in the supratentorial region. Patterns of peritumoral edema and rate of cyst formation seemed to be influenced by the presence of anatomic barriers. Germline VHL mutation was identified in all patients, but no specific genotype-phenotype correlation was found, although a familial predisposition is suggested. Conclusion This series illustrates the wide variation in tumor locations, patterns of growth, and edema progression seen in supratentorial hemangioblastomas and adds to our knowledge of the natural history of hemangioblastomas. |
| Databáze: | OpenAIRE |
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