Von Hippel-Lindau Syndrome in a Private Cancer Service in São Paulo: Case Report
Introduction: Von Hippel-Lindau (VHL) syndrome is an autosomal dominant hereditary pathology that involves the growth of tumors in different regions of the human body due to mutation of the VHL gene. Case report: Male patient, 38 years old, complained of recurrent headache for 3 years, with progress...
| Autores: | , , , , , |
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| Formato: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2023 |
| País: | Brasil |
| Recursos: | Instituto Nacional de Câncer José Alencar Gomes da Silva (INCA) |
| Repositorio: | Revista Brasileira de Cancerologia (Online) |
| Idioma: | portugués inglés español |
| OAI Identifier: | oai:rbc.inca.gov.br:article/2686 |
| Acesso em linha: | https://rbc.inca.gov.br/index.php/revista/article/view/2686 |
| Access Level: | acceso abierto |
| Palavra-chave: | doença de von Hippel-Lindau mutação em linhagem germinativa hemangioblastoma von Hippel-Lindau disease germ-line mutation enfermedad de von Hippel-Lindau mutación de línea germinal |
| Resumo: | Introduction: Von Hippel-Lindau (VHL) syndrome is an autosomal dominant hereditary pathology that involves the growth of tumors in different regions of the human body due to mutation of the VHL gene. Case report: Male patient, 38 years old, complained of recurrent headache for 3 years, with progressive worsening. A lesion in the cerebellum was diagnosed, whose magnetic resonance imaging found an expansive formation in the posteroinferior portion of the left cerebellar hemisphere. Multislice tomography of the abdomen was performed, showing splenic nodular formation with marginal enhancement. Cervical spine imaging demonstrated a small nodule located in the cervical (intramedullary) cord adjacent to cervical vertebra 3 (C3). In view of the findings, the patient underwent total macroscopic resection of the cerebellar lesion, with an anatomopathological report of World Health Organization (WHO) grade 1 cerebellar hemangioblastoma, which is a benign tumor with lower risk of aggressiveness and recurrence. Immunohistochemical test showed positive cluster of differentiation 34 (CD34), cell proliferation index positive (Ki67) (<5%), positive alpha inhibin and epithelial membrane antigen (EMA) negative. As the patient had no family history of cancer, a new generation sequencing was performed due to the radiological findings, which identified the pathogenic variant VHL c.292T>C found in germ lineage; although the family was unaware of any past family history of the syndrome, the patient’s diagnosis was confirmed. Conclusion: The set of clinical findings and the variant in the VHL gene confirm the diagnosis of the syndrome. |
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