Hemangioblastoma

Os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease são neoplasias vasculares do SNC. Estes são raros e frequentemente associados à doença de von Hippel-Lindau (VHL). A apresentação mais MAIS Androgen Insensitivity Syndrome comum é a cefaleia e, dependendo do tamanho e localização do tumor Tumor Inflammation, os doentes podem apresentar défices sensitivos e fraqueza motora. A imagem é o principal método de rastreio, sendo necessária uma avaliação histopatológica para diagnóstico definitivo. A cirurgia está, frequentemente, indicada no tratamento de hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease, embora, dependendo do tamanho, número e localização dos tumores, a radioterapia também possa ser necessária. O prognóstico é, geralmente, bom nos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease solitários, mas os tumores associados à VHL estão, frequentemente, associados a um pior prognóstico e a um maior risco de recorrência.

Last updated: Dec 15, 2025

Editorial responsibility: Stanley Oiseth, Lindsay Jones, Evelin Maza

Descrição Geral

Definição

Os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease são neoplasias do SNC raras, benignas, de crescimento lento, altamente vasculares, que têm alta associação com a doença de von Hippel-Lindau (VHL). A doença de VHL é uma condição autossómica dominante caracterizada por uma variedade de tumores benignos e malignos.

  • Os tumores são encontrados com maior frequência no cerebelo.
  • Os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease são encontrados frequentemente no parênquima, ligados ou junto à pia-mater, uma parte das meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy (composta por 3 camadas fibrosas) que encerram o SNC:
    • Dura-máter: camada externa, forma uma bainha de colagénio resistente
    • Aracnoide-máter: camada intermédia, composta por epitélio escamoso simples com uma rede laxa de colagénio e fibras elásticas
    • Pia-máter: camada interna fina em contacto com o cérebro e com a medula espinhal
Tabela: Classificação dos tumores do sistema nervoso
Categorias Tumores específicos
Tumores neuroepiteliais no SNC
  • Astrocitomas, incluindo o glioblastoma multiforme Glioblastoma multiforme Glioblastoma multiforme is a high-grade astrocytoma, an aggressive brain tumor arising from astrocytes, with an unknown cause and a poorly understood link to risk factors. There are two main types: primary, a more aggressive form seen more commonly in older patients, and secondary, developing from lower-grade astrocytomas and seen more commonly in younger patients. Glioblastoma Multiforme
  • Oligodendroglioma Oligodendroglioma Oligodendrogliomas are malignant CNS tumors arising from neural glial cell precursors. Oligodendrogliomas often arise in the frontal lobes of the brain and have a generally favorable prognosis when compared to other gliomas. Oligodendrogliomas are the 3rd most common CNS tumor. The most frequent presenting symptom is a seizure. Oligodendroglioma
  • Ependimoma e tumores do plexo coroide
  • Meduloblastomas (tumores embrionários)
Tumores meníngeos
  • Meningiomas
  • Hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease
Tumores da região selar
  • Craniofaringioma
  • Adenoma hipofisário
  • Pinealoma/pinealoblastoma
Linfoma primário do SNC Linfoma primário do SNC
Metástases cerebrais (5x mais MAIS Androgen Insensitivity Syndrome comuns do que tumores cerebrais primários) Mais MAIS Androgen Insensitivity Syndrome frequentemente decorrentes de:
  • Carcinomas do pulmão, mama e de células renais
  • Melanoma Melanoma Melanoma is a malignant tumor arising from melanocytes, the melanin-producing cells of the epidermis. These tumors are most common in fair-skinned individuals with a history of excessive sun exposure and sunburns. Melanoma
Tumores periféricos
  • Schwannomas, incluindo neurinomas acústicos
  • Neuroblastoma Neuroblastoma Neuroblastoma is a malignancy that arises from the neural crest cell derivatives along the sympathetic chain (neuroblasts) and is most commonly located in the adrenal medulla. The tumor often presents in childhood with a flank mass that crosses the midline. Neuroblastoma

Epidemiologia

  • Esporádico: 75%
  • Associado à VHL: 25%
  • Incidência:
    • Extremamente raro
    • 2,5% de todas as neoplasias intracranianas
    • 5% dos tumores da medula espinhal
  • Sexo: A incidência é maior em homens do que em mulheres (2:1).
  • Idade:
    • As crianças raramente são afetadas.
    • A idade de pico de incidência é dos 20 aos 50 anos.

Etiologia

  • A causa exata do hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma não é conhecida.
  • Considera-se que a origem etiológica seja uma mutação no gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics VHL devido à elevada associação ao VHL.

Fisiopatologia

Localização do tumor Tumor Inflammation

Os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease crescem ligados à pia-máter (camada meníngea mais MAIS Androgen Insensitivity Syndrome interna)

  • Parênquima do cerebelo
  • Tronco cerebral
  • Medula espinhal

Patogénese

Embora os hemangiomas esporádicos não tenham uma patogénese clara, acredita-se que os hemangiomas associados a VHL sejam causados por uma mutação no gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics VHL. Até 50% dos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease esporádicos apresentam, também, mutações ou deleções no gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics VHL.

  • Gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics VHL:
    • Gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics supressor tumoral encontrado no cromossoma 3p
    • Responsável pela inibição do fator-2α induzido por hipóxia (HIF-2α, pela sigla em inglês), por degradação proteassómica mediada por ubiquitina
  • HIF-2α:
    • Parte de um grande complexo proteico do fator de transcrição denominado HIF HIF Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by oxygen availability and is targeted for degradation by VHL tumor suppressor protein. Von Hippel-Lindau Disease, que está envolvido na regulação da capacidade do corpo em se adaptar às mudanças nos níveis de oxigénio
    • O HIF HIF Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by oxygen availability and is targeted for degradation by VHL tumor suppressor protein. Von Hippel-Lindau Disease pode induzir a expressão de mais MAIS Androgen Insensitivity Syndrome de 70 genes-alvo, incluindo:
      • Fator de crescimento endotelial vascular (VEGF, pela sigla em inglês)
      • Fator de crescimento derivado de plaquetas (PDGF, pela sigla em inglês)
      • Eritropoietina
      • Fator de crescimento transformador α (TGF-α, pela sigla em inglês)
  • Quando está disponível a concentração de oxigénio adequada, a proteína VHL ajuda a suprimir o HIF HIF Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by oxygen availability and is targeted for degradation by VHL tumor suppressor protein. Von Hippel-Lindau Disease.
  • Um gene Gene A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Basic Terms of Genetics VHL disfuncional (causado por mutação ou deleção) pode levar à acumulação de HIF-α devido à incapacidade de degradar o HIF-2α.
  • A estabilização do HIF-2α permite que ele induza a expressão dos seus genes Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. DNA Types and Structure alvo → ↑ fatores angiogénicos → crescimento tumoral

Desenvolvimento de sintomas

O desenvolvimento de sintomas é causado por:

  • Compressão direta do tumor Tumor Inflammation nas estruturas neuronais
  • Hemorragia peritumoral
  • Complicações paraneoplásicas

Apresentação Clínica e Complicações

Apresentação clínica

Os sintomas dependem da localização e da progressão do tumor Tumor Inflammation. Os sintomas mais MAIS Androgen Insensitivity Syndrome frequentemente observados são:

  • Dor de cabeça: mais MAIS Androgen Insensitivity Syndrome comum
  • Dor local (comum em lesões da medula espinhal)
  • Ataxia Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. Ataxia-telangiectasia cerebelar e descoordenação
  • Aumento da pressão intracraniana (PIC) devido a hidrocefalia obstrutiva
  • Disfunção do nervo oculomotor
  • Fraqueza motora
  • Défices sensitivos

Hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease esporádicos versus associados a VHL

Tabela: Apresentações clínicas típicas de hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease esporádicos versus hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease associados a VHL
Hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma esporádico Hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma associado a VHL
Apresenta-se como um tumor Tumor Inflammation solitário Tumores múltiplos ao longo do neuroeixo
Geralmente ocorre na 3ª ou 4ª década de vida Diagnosticado numa idade mais MAIS Androgen Insensitivity Syndrome jovem (2ª década)
Frequentemente apresenta-se como um tumor Tumor Inflammation isolado no cerebelo 50% dos tumores estão localizados na medula espinhal, 40% no cerebelo e 10% no tronco cerebral.

Complicações

As complicações geralmente ocorrem devido ao aumento do tamanho do tumor Tumor Inflammation (> 1,5 cm), por causar compressão ou hemorragia espontânea:

  • Sintomas de aumento da PIC/hidrocefalia obstrutiva rápida
  • Alteração do estado de consciência
  • Policitemia devido à produção ectópica de eritropoietina (síndrome paraneoplásica)
  • Tetraplegia

Diagnóstico

Embora a principal ferramenta diagnóstica seja a imagem, o exame diagnóstico de eleição requer uma análise histopatológica de uma amostra obtida por biópsia.

Imagiologia

Todo o eixo neuronal deve ser visualizado para descartar múltiplas lesões, que são comuns em casos de VHL.

  • RMN com contraste:
    • A RMN com gadolínio é o método de imagem mais MAIS Androgen Insensitivity Syndrome sensível para diagnosticar o hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma.
    • Características típicas:
      • Nódulo, com captação de contraste, associado a um quisto (60% dos tumores)
      • Tumor Tumor Inflammation sólido com captação de contraste (40%)
    • T1 mostra um nódulo hipointenso a isointenso
    • T2 mostra um nódulo hiperintenso
    • Qualquer quisto presente tem a mesma densidade que o LCR.
  • TC:
    • Não é o método de diagnóstico preferido, porque os tumores pequenos podem ser ofuscados por artefactos ósseos
    • A TC sem contraste mostra um nódulo isointenso.
    • Com contraste: realce homogéneo e intenso dos nódulos
    • A TC também é usada como adjuvante à angiografia quando o doente não pode ser submetido à RMN.
  • Angiografia cerebral e medular:
Hemangioblastoma

Imagens radiográficas de hemangioblastomas:
A: RMN axial com contraste, ponderada em T1, a demonstrar um hemangioblastoma cerebelar com um nódulo mural captante e um quisto peritumoral
B: RMN sagital com contraste, ponderada em T1, a revelar um hemangioblastoma medular captante, com edema vasogénico circundante
C: RMN sagital com contraste, ponderada em T1, a demonstrar um hemangioblastoma posterior/dorsal captante, com siringe associada

Imagem: “Hemangioblastoma” por Department of Neurological Surgery, Ohio State University Wexner Medical Center , Columbus, OH , USA. Licença: CC BY 4.0

Exame oftalmológico

  • Os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease têm uma alta associação com VHL, que está associada aos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease da retina Retina The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The outermost layer is pigmented, whereas the inner nine layers are transparent. Eye: Anatomy.
  • A angiografia retiniana pode ser realizada para descartar a presença de um hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma retiniano.
Doença de von Hippel-Lindau com maculopatia exsudativa

Angiografia de fluoresceína do olho direito a demonstrar um hemangioblastoma temporal superior da retina com a artéria e veia de drenagem

Imagem: “Fluorescein angiogram of right eye” por Vitreoretinal Division, Department of Ophthalmology, Al-Hussein Hospital, King Hussein Medical Center, Amman, Jordan. Licença: CC BY 2.0

Histopatologia

  • Exame de eleição para diagnóstico
  • Exame macroscópico: nódulos vermelhos bem circunscritos e altamente vasculares
  • Exame microscópico:
    • Extensas redes vasculares com capilares estruturalmente normais
    • Células estromais neoplásicas:
      • Núcleos hipercromáticos e pleomórficos
      • Baixa taxa mitótica
      • Sem atipias
      • Fibras de Rosenthal
  • Podem surgir 2 componentes celulares distintos no mesmo tumor Tumor Inflammation:
    • Tipo 1: pequenas células endoteliais perivasculares com núcleos hipercromáticos e citoplasma esparso
    • Tipo 2: citoplasma vacuolado e rico em lípidos
Hemangioblastoma do nervo óptico

Fotomicrografia de H&E de um hemangioblastoma do nervo óptico (localização incomum) a revelar um tumor marcadamente vascular com células estromais lipidizadas (×200)

Imagem: “Optic nerve hemangioblastoma” por Department of Surgery, Division of Neurosurgery, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Licença: CC BY 3.0

Tratamento e Prognóstico

A resseção cirúrgica é a principal abordagem no tratamento de hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease. Terapias adjuvantes são frequentemente necessárias nos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease associados a VHL, e as opções incluem radioterapia, embolização endovascular e terapia antiangiogénica.

Tratamento cirúrgico

A cirurgia é a principal abordagem definitiva para tratar os hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease, pois são tumores benignos e não invasivos.

  • Os tumores geralmente são bem demarcados das estruturas circundantes, mas são altamente vasculares e localizados em áreas neurologicamente sensíveis.
  • A angiografia pré-operatória é útil para identificar as artérias de alimentação.
  • Necessidade de terapia adjuvante:
    • Geralmente não é necessária em tumores únicos esporádicos
    • Normalmente necessária em tumores associados a VHL e/ou múltiplos

Outras modalidades terapêuticas

  • Radioterapia:
    • A radioterapia pós-operatória reduz a recorrência de hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease.
    • Indicações:
      • Lesões inacessíveis cirurgicamente
      • Lesões múltiplas
  • Embolização endovascular:
    • Objetivo: diminuir a vascularização do tumor Tumor Inflammation e reduzir as complicações intraoperatórias da hemorragia
    • Tumores grandes podem ser consideravelmente reduzidos para facilitar a resseção.
  • Inibidores angiogénicos: bevacizumab Bevacizumab An anti-vegf humanized murine monoclonal antibody. It inhibits vegf receptors and helps to prevent pathologic angiogenesis. Targeted and Other Nontraditional Antineoplastic Therapy
    • Mecanismo de ação: um anticorpo monoclonal liga-se e inibe os efeitos do VEGF → ↓ angiogénese
    • Usos: doentes com tumores VHL, que não respondem ou não são recetivos à cirurgia ou radiação
  • Inibidor HIF-2ɑ (belzutifan):
    • Para indivíduos com doença de VHL
    • Usado para atrasar a cirurgia naqueles cujos tumores apresentam um crescimento rápido
    • Também benéfico em indivíduos com tumores refratários ou recorrentes

Prognóstico

O prognóstico é bom, na maioria dos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease tratados:

  • A resseção cirúrgica limpa (com margens cirúrgicas negativas), principalmente em tumores solitários esporádicos, garante um bom prognóstico.
  • A deteção e intervenção precoces são favoráveis.
  • Hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease associados à VHL:
    • Maior probabilidade de recorrência do que tumores esporádicos
    • Pior prognóstico
    • Maior associação com défices neurológicos

Diagnóstico Diferencial

  • Meningioma Meningioma Meningiomas are slow-growing tumors that arise from the meninges of the brain and spinal cord. The vast majority are benign. These tumors commonly occur in individuals with a history of high doses of skull radiation, head trauma, and neurofibromatosis 2. Meningioma: tumores que surgem das meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy do cérebro e da medula espinhal. Os meningiomas são frequentemente assintomáticos, mas podem apresentar-se com cefaleia, convulsões e distúrbios visuais. O diagnóstico é realizado por RMN e biópsia. Os casos assintomáticos são normalmente mantidos em observação, enquanto que os doentes sintomáticos são tratados cirurgicamente ou com radiação. Ao contrário dos hemangioblastomas Hemangioblastomas A benign tumor of the nervous system that may occur sporadically or in association with von Hippel-Lindau disease. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with intracranial hypertension, and ataxia. Von Hippel-Lindau Disease, os meningiomas estão sempre próximos às meninges Meninges The brain and the spinal cord are enveloped by 3 overlapping layers of connective tissue called the meninges. The layers are, from the most external layer to the most internal layer, the dura mater, arachnoid mater, and pia mater. Between these layers are 3 potential spaces called the epidural, subdural, and subarachnoid spaces. Meninges: Anatomy e geralmente apresentam achados na imagem de fixação dural (e.g., sinal da cauda dural).
  • Glioblastoma multiforme Glioblastoma multiforme Glioblastoma multiforme is a high-grade astrocytoma, an aggressive brain tumor arising from astrocytes, with an unknown cause and a poorly understood link to risk factors. There are two main types: primary, a more aggressive form seen more commonly in older patients, and secondary, developing from lower-grade astrocytomas and seen more commonly in younger patients. Glioblastoma Multiforme: astrocitoma de grau IV segundo a classificação da OMS, rapidamente progressivo que surge de astrócitos (células gliais no cérebro) e apresenta-se clinicamente como dor de cabeça, náuseas, sonolência, visão turva, alterações de personalidade e convulsões. A imagem, a apresentação clínica e a biópsia são os pilares diagnósticos. O tratamento inclui radioterapia, quimioterapia e excisão cirúrgica. O prognóstico é mau, mesmo com o tratamento. Ao contrário do hemangioblastoma Hemangioblastoma Hemangioblastomas are vascular neoplasms of the CNS. Hemangioblastomas are rare and are often associated with von Hippel-Lindau disease (VHL). The most common presentation is a headache and, depending on the size and location of the tumor, patients may present with sensory deficits and motor weakness. Hemangioblastoma, o glioblastoma multiforme Glioblastoma multiforme Glioblastoma multiforme is a high-grade astrocytoma, an aggressive brain tumor arising from astrocytes, with an unknown cause and a poorly understood link to risk factors. There are two main types: primary, a more aggressive form seen more commonly in older patients, and secondary, developing from lower-grade astrocytomas and seen more commonly in younger patients. Glioblastoma Multiforme não está associado à VHL.
  • Oligodendroglioma Oligodendroglioma Oligodendrogliomas are malignant CNS tumors arising from neural glial cell precursors. Oligodendrogliomas often arise in the frontal lobes of the brain and have a generally favorable prognosis when compared to other gliomas. Oligodendrogliomas are the 3rd most common CNS tumor. The most frequent presenting symptom is a seizure. Oligodendroglioma: tumor Tumor Inflammation do SNC que se origina a partir de oligodendrócitos. O oligodendroglioma Oligodendroglioma Oligodendrogliomas are malignant CNS tumors arising from neural glial cell precursors. Oligodendrogliomas often arise in the frontal lobes of the brain and have a generally favorable prognosis when compared to other gliomas. Oligodendrogliomas are the 3rd most common CNS tumor. The most frequent presenting symptom is a seizure. Oligodendroglioma pode apresentar-se com défices neurológicos focais, convulsões e alterações de personalidade, dependendo da localização exata. O diagnóstico é realizado por RMN e biópsia. Os oligodendrogliomas desenvolvem-se frequentemente nos hemisférios cerebrais, normalmente no lobo frontal Frontal The bone that forms the frontal aspect of the skull. Its flat part forms the forehead, articulating inferiorly with the nasal bone and the cheek bone on each side of the face. Skull: Anatomy, e raramente são encontrados na região infratentorial ou na medula espinhal. O tratamento envolve resseção cirúrgica, possivelmente acompanhada de radioterapia e/ou quimioterapia.
  • Aneurisma cerebral: fraqueza na parede de um vaso sanguíneo que abastece o cérebro, que dilata e corre o risco de romper. Um aneurisma não roto geralmente é assintomático e a sua rutura causa cefaleia súbita e intensa. Os aneurismas cerebrais são diagnosticados com TC, angiografia ou ultrassonografia. O tratamento depende da localização e é tipicamente tratado com endoprótese endovascular.

Referências

  1. Wong, E.T., Joseph, J., Wu, J.K. Hemangioblastoma. UpToDate. Retrieved May 20, 2021, from https://www.uptodate.com/contents/hemangioblastoma
  2. Slavin, K.V. (2017). Hemangioblastoma. Medscape. Retrieved May 20, 2021, from https://emedicine.medscape.com/article/250670-overview
  3. Pernick, N. (2021). CNS tumors—other tumors—hemangioblastoma. Pathology Outlines. Retrieved May 20, 2021, fromhttps://www.pathologyoutlines.com/topic/cnstumorhemangioblastoma.html 
  4. Kim W.Y., Kaelin W.G. (2004). Role of VHL gene mutation in human cancer. J Clin Oncol. Retrieved June 1, 2021, from https://pubmed.ncbi.nlm.nih.gov/15611513/ 
  5. Dengler, V. L., Galbraith, M., Espinosa, J. M. (2014). Transcriptional regulation by hypoxia inducible factors. Critical reviews in biochemistry and molecular biology, 49(1):1–15. Retrieved June 1, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342852/

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