Year: 2025
Type: conference-abstract
Abstract: BACKGROUND Hemangioblastomas (HB) are benign, grade 1, highly vascularized tumors, representing 3% of primary neoplasms of the central nervous system (CNS) and 7-12% of posterior fossa lesions. Approximately 30% of cases are associated with Von Hippel Lindau syndrome (VHL), with 25% of patients presenting multiple and recurrent lesions. Hemangioblastomatosis is an extremely rare condition characterized by leptomeningeal dissemination of HB and a tendency for recurrence, resulting in severe neurological outcomes. MATERIAL AND METHODS A retrospective case series was conducted. We analyzed sociodemographic data, medical history, clinical manifestations, radiological findings, treatment approaches, and follow-up outcomes. Diagnosis of hemangioblastomatosis was established based on radiological evidence of multiple HB lesions with leptomeningeal involvement. RESULTS Eight cases were identified (6 women, 2 men), with an age range of 29-49 years. The predominant clinical manifestations at diagnosis were severe progressive headache and posterior fossa symptoms. Brain magnetic resonance imaging (MRI) revealed cerebellar lesions in all cases, spinal cord involvement in 5 patients, and medulla oblongata lesions in 2 patients. VHL was confirmed in 4 cases through genetic testing showing pathogenic heterozygous variants, and in 3 additional cases through family history and multiple angiomatosis. Six patients underwent multiple surgical resections, one received endoscopic ventriculostomy, two underwent fractionated CyberKnife radiotherapy, and one received cervical radiotherapy. One patient was treated with bevacizumab. The median follow-up period was 8.5 years (range: 1-20 years), with varying degrees of lesion stability observed after interventions. CONCLUSION Hemangioblastomatosis represents a potentially aggressive progression of HB, characterized by recurrence and multifocal presentation. For VHL surveillance, long-term monitoring with periodic magnetic resonance imaging is recommended to increase early detection of recurrence of leptomeningeal lesion or involvement. This allows appropriate treatment strategies to be established, depending on factors such as the size of the lesion, the number of lesions and clinical manifestations, with the intention of reducing the morbidity and mortality of this disease.
Source: Neuro-Oncology
Authors: L E SUSSMANN - ESTRADA, E JARAMILLO-JIMENEZ, M TORRES-BUSTAMANTE, J H MONTENEGRO-MUÑÓZ, C E RIVAS-CHARA, L POSADA-YEPES, J E RODRIGUEZ-DÁVILA
Language: English
Topic: Ear and Head Tumors
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4414792543
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