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Hemangioblastoma
ORPHA:252054CID-10 · D33.4DOENÇA RARA

Hemangioblastoma é um tipo raro de tumor não canceroso, mas com muitos vasos sanguíneos, que geralmente aparece no sistema nervoso central (cérebro e medula espinhal). Ele costuma ser encontrado no cerebelo ou na medula espinhal, surgindo na idade adulta. Os sintomas podem incluir tontura, náusea, mal-estar, dor de cabeça, problemas para controlar a bexiga ou o intestino, dormência, fraqueza e dor nos braços ou nas pernas. Frequentemente, está associado à doença de von Hippel-Lindau (VHL). Em casos muito raros, o hemangioblastoma pode surgir fora do sistema nervoso central.

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Introdução

O que você precisa saber de cara

📋

Hemangioblastoma é um tipo raro de tumor não canceroso, mas com muitos vasos sanguíneos, que geralmente aparece no sistema nervoso central (cérebro e medula espinhal). Ele costuma ser encontrado no cerebelo ou na medula espinhal, surgindo na idade adulta. Os sintomas podem incluir tontura, náusea, mal-estar, dor de cabeça, problemas para controlar a bexiga ou o intestino, dormência, fraqueza e dor nos braços ou nas pernas. Frequentemente, está associado à doença de von Hippel-Lindau (VHL). Em casos muito raros, o hemangioblastoma pode surgir fora do sistema nervoso central.

Pesquisas ativas
7 ensaios
19 total registrados no ClinicalTrials.gov
Publicações científicas
2.246 artigos
Último publicado: 2026 Jan-Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.14
Worldwide
Início
Adult
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D33.4
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
4 sintomas
💪
Músculos
2 sintomas
🫃
Digestivo
2 sintomas
👁️
Olhos
1 sintomas

+ 7 sintomas em outras categorias

Características mais comuns

100%prev.
Hemangioblastoma
90%prev.
Hemangioblastoma cerebelar
Muito frequente (99-80%)
90%prev.
Cefaleia
Muito frequente (99-80%)
90%prev.
Vertigem
Muito frequente (99-80%)
90%prev.
Lesão cística intracraniana
Muito frequente (99-80%)
90%prev.
Hemangioma capilar retiniano
Muito frequente (99-80%)
16sintomas
Muito frequente (8)
Frequente (7)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.

Hemangioblastoma
Muito frequente100%
Hemangioblastoma cerebelarCerebellar hemangioblastoma
Muito frequente (99-80%)90%
CefaleiaHeadache
Muito frequente (99-80%)90%
VertigemVertigo
Muito frequente (99-80%)90%
Lesão cística intracranianaIntracranial cystic lesion
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.246PubMed
Últimos 10 anos200publicações
Pico2025109 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
2Fase 25
1Fase 11
·Pré-clínico6
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 13 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hemangioblastoma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

5 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

19 ensaios clínicos encontrados, 7 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
1.022 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.022

#1

Comparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.

Brain &amp; spine2026

This study compared laminectomy and hemilaminectomy for resection of spinal (sHBs), evaluating extent of resection, 12-month postoperative functional outcomes, perioperative complications overall, with particular attention to postoperative bleeding. This retrospective international multicenter study included 280 primary sHB patients from 13 neuro-oncological centers who underwent either laminectomy (n = 125) or hemilaminectomy (n = 155). The endpoints were the extent of resection, functional outcomes at 12 months, and postoperative bleeding requiring retreatment. Multivariable logistic regression analysis was performed to determine independent risk factors associated with these outcomes. The rate of complete resection was similar between both surgical approaches, with 86.4% in the laminectomy group and 90.3% in the hemilaminectomy group (p = 0.35). Independent predictors of incomplete resection included preoperative modified McCormick >2 (OR: 4.29, p = 0.001), combined intra- and extramedullary tumor location (OR: 2.91, p = 0.03), and cervical or thoracic tumor location (OR: 3.38, p = 0.01). Functional outcomes at 12 months did not differ significantly between the laminectomy- and hemilaminectomy-groups (p = 0.97). Postoperative bleeding was more frequently observed in tumors involving two or more spinal segments (OR: 14.6, p = 0.01). The choice of surgical approach did not impact the incidence of postoperative bleeding (p = 0.55). Laminectomy and hemilaminectomy result in comparable outcomes of sHB. Tumors affecting multiple spinal segments are associated with an increased risk of postoperative bleeding, while combined intra- and extramedullary growth, impaired preoperative functioning and non-lumbar location were associated with incomplete resection. Given the comparable outcomes, the selection of the surgical approach may be guided by surgeon preference and individual patient anatomy.

#2

Unusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.

Journal of neuropathology and experimental neurology2026 Feb 28

Hemangioblastomas (HB) are rare CNS neoplasms. Their main differential diagnosis includes meningioma, glioma, and metastatic clear cell renal carcinoma. However, the diagnostic immunoprofile of HBs is only imprecisely defined. We analyzed a multicentric cohort of HBs using tissue microarrays and whole sections to determine immunoreactivities of a range of selected meningothelial, glial and other markers used in diagnostic pathology. The clinical and pathological features were correlated. The cohort included 112 tumors from 104 patients (46.1% males, 53.9% females) with a mean age 50.1 years. The tumors occurred in cerebellum (72%), spine (18.9%) and medulla oblongata (5.4%). No HB expressed SSTR2A, MUC4 or STAT6. Expression of glial markers S100, GFAP, Olig2, and SOX10 was observed in 93.3%, 80.6%, 5.1%, and 8.1% of cases, respectively. Inhibin-α was positive in 84.5% and carbonic anhydrase IX (CAIX) in 100% of the cases. Negative PAX8 immunostaining was observed using specific C-terminus antibody whereas N-terminus anti-PAX8 staining yielded 63.2% positivity. T-brachyury, SATB2, and GPNMB were observed in 3.8%, 2.1%, and 20.8%, respectively. No expression of SOX17, CDX2, Sall4, GATA3, or INSM1 was observed. Thus, HBs show a consistent PAX8-negative/CAIX-positive immunoprofile while they lack meningothelial markers and occasionally may express SOX10 and Olig2.

#3

Pathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.

The Journal of veterinary medical science2026 Feb 13

Hemangioblastomas are rare intramedullary vascular tumors. Their biological nature is considered benign, but there is little information in dogs. This report describes histopathological and immunohistochemical features and postoperative clinical courses of three dogs to expand the current knowledge of this tumor. Histopathological examination revealed the proliferation of neoplastic stromal cells with irregularly arranged blood vessels and clusters of lymphocytes. Immunohistochemically, neoplastic stromal cells were immunolabeled for glial fibrillary acidic protein (GFAP), neuron specific antigen (NSE), and vimentin, and capillary endothelia and vessel walls were immunolabeled for CD31 and smooth muscle actin (SMA). Postoperative follow-up revealed improvements in neurological symptoms and no evidence of tumor recurrence for 3 months to 3 years, suggesting that surgical excision is a beneficial treatment method.

#4

Isolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.

Surgical neurology international2026

Brain metastases from follicular thyroid carcinoma (FTC) are exceptionally rare, especially in the infratentorial region. Even rarer is when such a lesion precedes the diagnosis of the primary tumor. This case highlights the importance of maintaining diagnostic vigilance for metastatic disease, even in patients with seemingly benign thyroid pathology. A 55-year-old female presented with progressive imbalance and headache. Magnetic resonance imaging revealed a solid-cystic lesion in the cerebellar vermis compressing the fourth ventricle. She had a prior diagnosis of colloid goiter based on fine-needle aspiration cytology (FNAC). Intraoperatively, the lesion mimicked a hemangioblastoma; frozen section supported this diagnosis. However, final histopathology and immunohistochemistry confirmed metastatic FTC. Subsequent positron emission tomography-computed tomography and repeat thyroid FNAC confirmed the primary tumor, leading to total thyroidectomy and radioactive iodine therapy. This case is likely the first reported instance of isolated cerebellar metastasis from FTC, masquerading as a primary central nervous system tumor. Surgeons should maintain a high index of suspicion when encountering posterior fossa tumors with atypical features, even with a prior benign thyroid FNAC.

#5

Whole-Genome Landscape of Retinal Hemangioblastomas.

Translational vision science &amp; technology2026 Jan 05

Retinal hemangioblastomas (RHs) are rare benign vascular tumors that present mostly as manifestations of Von Hippel-Lindau (VHL) syndrome. In contrast to other VHL syndrome-associated tumors, only a handful of molecular studies have been published on RHs. It remains unclear whether VHL alterations alone drive RH tumorigenesis. Whole-genome sequencing (WGS) was performed on germline- and RHs-derived DNA of five patients. Additionally, transcriptomes of four unaffected retinas and five choroid controls were compared with those of RH biopsies. Heterozygous germline missense variants and copy number losses impacting VHL were identified. In all RH biopsies, mosaic loss of chromosome 3 was present, indicating the "second hit" in RHs is likely loss of the complete wild-type chromosome 3. Few additional somatic short nucleotide variants (SNVs) indels, or structural variants with deleterious potential were detected, suggesting that somatic changes are rare but not limited to the VHL gene region. RNA sequencing revealed reduced VHL expression in tumor tissue and downstream gene expression changes consistent with loss of VHL expression. RHs have few somatic changes. Loss of chromosome 3 is likely the second hit in RHs with germline VHL alterations. RHs are benign neoplasms with little somatic changes compared with other VHL-syndrome associated tumors. Variants affecting VHL impact downstream gene expression, variants impacting different VHL domains result in differential gene expression of these downstream targets. RNA sequencing may aid in the evaluation of variants of unknown significance.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.202 artigos no totalmostrando 198

2026

Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.

Molecular oncology
2026

Comparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.

Brain &amp; spine
2026

Peritumoral Cystic Meningioma With Diagnostic Challenges: Two Case Reports and a Literature Review.

Cureus
2026

Neuroendocrine Tumor of the Cauda Equina: A Report of a Rare Case With Histopathological and Immunohistochemical Correlation.

Cureus
2026

YAP1::TFE3-rearranged inflammatory spindle cell PEComa of the anterior mediastinum in a 5-year-old child: first pediatric case.

Virchows Archiv : an international journal of pathology
2026

Rare Case of Multifocal Spinal Hemangioblastomas With Holocord Syringo-Hydromyelia in an Adolescent Male.

Cureus
2026

Unusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.

Journal of neuropathology and experimental neurology
2026

Fatal hemangioblastoma: a case report and literature review.

Frontiers in oncology
2026

Diagnosis of Von Hippel-Lindau Syndrome Via Pancreatic Cyst Fluid Next-Generation Sequencing.

ACG case reports journal
2026

Pathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.

The Journal of veterinary medical science
2026

Belzutifan-induced tumor regression in sporadic hemangioblastoma: a case report and literature review.

Journal of neuro-oncology
2026

Isolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.

Surgical neurology international
2026

Retinal Capillary Hemangioblastoma: A Comprehensive Review on Treatments.

Ocular oncology and pathology
2026

Exploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.

Healthcare (Basel, Switzerland)
2026

Hemangioblastoma of the Kidney-A Comprehensive Clinical, Pathological, and Genetic Analysis of Four Cases.

APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
2026

Navigating the Unseen: A Rare Case of Intradural Extramedullary Spinal Hemangioblastoma and a Systematic Review of Surgical Challenges and Outcomes.

World neurosurgery
2026

Whole-Genome Landscape of Retinal Hemangioblastomas.

Translational vision science &amp; technology
2026

[A rare case of adrenal hemangioblastoma and literature review].

Zhonghua nei ke za zhi
2026

Survival Impact of Surgery, Radiation, and Socioeconomic Factors in Spinal Hemangioblastoma: A Population-Based Study.

World neurosurgery
2025

Combination tumors of the nervous system: A single-center analysis of a rare condition and comprehensive review of the literature.

Neuro-oncology advances
2026

Complete involution of retinal hemangioblastoma with single session cryotherapy.

Journal francais d'ophtalmologie
2025

Cerebellar Hemangioblastoma Resection Complicated by Postoperative Vasogenic Edema in the Setting of Concurrent Immunotherapy Treatment.

Cureus
2025

Attention can shift the reference eye under binocular fusion failure: A case report.

Journal of vision
2025

Belzutifan for Ocular Tumors in Patients with von Hippel-Lindau Disease.

Ocular oncology and pathology
2025

Pineal region hemangioblastoma: a case report and literature review.

BMC surgery
2025

Prognostic relevance of MIB-1 labeling index in VHL-associated and sporadic spinal hemangioblastomas: a subgroup analysis from a multicentric study.

Acta neuropathologica communications
2025

A rare case of conjunctival hibernoma in a von Hippel-Lindau (VHL) patient: Possible association?

European journal of ophthalmology
2025

Retinal detachment risk in a cohort of von hippel-lindau patients at a Major U.S. tertiary care facility.

AJO international
2025

Familial Von Hippel-Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations.

Life (Basel, Switzerland)
2025

Intraoperative Ultrasound in the Management of Rare Lesions Involving the Intradural Extramedullary Spinal Compartment: A Quick, but Effective Helping Hand to Define the Optimal Surgical Strategy.

Cancers
2025

Recurrent mTOR pathway alterations in renal cell carcinoma with hemangioblastoma-like features: A multi-institutional study of 9 cases with expanding morphologic spectrum.

Virchows Archiv : an international journal of pathology
2025

Primary cerebellar angiosarcoma: a rare case report and literature review.

BMC surgery
2025

Stereotactic radiosurgery as adjuvant or salvage treatment for sporadic hemangioblastomas: A multi-center international study.

Journal of the neurological sciences
2025

Primary hemangioblastoma of rectum: a rare case report and review of literature.

Journal of cancer research and clinical oncology
2025

Renal Cell Carcinoma With Hemangioblastoma-Like Features and Leiomyomatous Stroma: A Rare Case Report and A Potential Pathological Diagnostic Pitfall.

International journal of surgical pathology
2026

Iatrogenic NORSE: Immune checkpoint inhibitor-related anti-GFAP autoimmune astrocytopathy.

Journal of neuroimmunology
2025

Autonomic Dysfunction Following Surgical Resection of Cervicomedullary Hemangioblastoma: A Case Report and Literature Review.

Cureus
2026

All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.

Clinical nuclear medicine
2025

Ruptured Hemorrhagic Posterior Fossa Hemangioblastoma With Atypical Dissemination to Meckel's Cave.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

Renal hemangioblastoma and renal cell carcinoma with fibromyomatous stroma and hemangioblastoma-like areas belong to the spectrum of one entity.

Virchows Archiv : an international journal of pathology
2025

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors.

Frontiers in genetics
2025

Belzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.

BMC cancer
2025

Case report: Von Hippel-Lindau syndrome with multisystem involvement: a therapeutic dilemma.

Frontiers in oncology
2025

Intramedullary Hemangioblastoma in the Cervical Spinal Cord of a Dog.

Case reports in veterinary medicine
2025

Canine Hemangioblastoma: Case Series and Literature Review.

Animals : an open access journal from MDPI
2025

[Cerebellar hemangioblastoma presenting with positional vertigo as the initial symptom: a case report and literature review].

Zhonghua yi xue za zhi
2025

Intraoperative neurophysiological monitoring in surgery for intramedullary spinal cord lesions - workflow, setup and outcomes.

Acta neurochirurgica
2025

Predicting outcomes in spinal hemangioblastoma surgery: Role of post-operative neurological status.

Surgical neurology international
2025

Centripetal filling and pathological insights: a rare case of sporadic renal hemangioblastoma with literature review.

Frontiers in physiology
2025

Gross total resection is associated with improvement and prognosis even in von Hippel-Lindau disease-related hemangioblastomas: Nationwide registry in Japan.

Neuro-oncology practice
2025

Surgical Outcomes and Prognostic Factors for Resectability of Intramedullary Spinal Cord Tumors Incorporating Intraoperative Neurophysiological Monitoring In Vietnam.

Medical archives (Sarajevo, Bosnia and Herzegovina)
2025

Laparoscopic Left Hepatectomy for Slowly Progressing Primary Hepatic Carcinosarcoma Associated With Von Hippel-Lindau Disease.

Asian journal of endoscopic surgery
2024

Revealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.

Journal of current ophthalmology
2025

VON Hippel-Lindau syndrome: A rare case of epididymal cystadenoma associated with hemospermia.

Urology case reports
2025

Expression of Follicle-Stimulating Hormone Receptor in Von Hippel-Lindau Associated Tumors and Cysts: An Immunohistochemical Study.

Journal of kidney cancer and VHL
2025

Outcomes of Pars Plana Vitrectomy in Complicated Retinal Detachment Secondary to Retinal Capillary Hemangioblastoma.

Medicina (Kaunas, Lithuania)
2025

Role of PPV in Advanced Retinal Hemangioblastoma-A Systematic Review.

International ophthalmology clinics
2026

Clinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.

Histopathology
2025

Spontaneous separation of epiretinal membrane associated with retinal hemangioblastoma: a case report with 10-year follow-up.

American journal of ophthalmology case reports
2025

The gradual expansion of multiple intramedullary metastatic renal cell carcinoma in a patient with von Hippel-Lindau disease with multiple intramedullary hemangioblastomas: illustrative case.

Journal of neurosurgery. Case lessons
2025

Long-term Safety and Efficacy of Belzutifan in Von Hippel-Lindau Syndrome: A VHL Coordinating Care Center Experience.

Journal of kidney cancer and VHL
2025

Mathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.

PLoS computational biology
2025

Pancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.

Surgical case reports
2025

Pancreatic Involvement by Mixed Serous Neuroendocrine Neoplasm Detected by Endosonography With Fine-Needle Tissue Acquisition in Von Hippel-Lindau Disease.

Cureus
2025

The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2025

Diagnosis and treatment of Von Hippel-Lindau syndrome: A case series.

Experimental and therapeutic medicine
2025

A case series of newly described rare mesenchymal tumors of the knee and the role of molecular testing in their histopathological diagnosis.

Pathology, research and practice
2025

Cerebellar Hemangioblastoma Masquerading as Recurrent Posterior Fossa Meningioma: A Case Report.

South Dakota medicine : the journal of the South Dakota State Medical Association
2025

Presentation, management, and clinical outcomes of von Hippel-Lindau syndrome.

Hong Kong medical journal = Xianggang yi xue za zhi
2025

Racial and socioeconomic disparities in long term survival after surgery and radiation for spinal cord hemangioblastoma.

Scientific reports
2025

The clinical features and real world treatment outcomes in von Hippel Lindau related retinal capillary hemangioblastomas.

International journal of retina and vitreous
2025

Screening for Von Hipple-Lindau gene mutation and management of cerebellar hemangioblastoma presenting as erythrocytosis.

Medical journal, Armed Forces India
2025

Ruthenium-106 Plaque Brachytherapy for the Management of Intraocular Tumors in Thailand: The First Report from Southeast Asia.

Seminars in ophthalmology
2025

Renal haemangioblastoma: a clinicopathologic and molecular characterization of 8 cases supporting the presence of recurrent MTOR pathway alterations.

Histopathology
2025

The impact of surgery on patients with Von Hippel-Lindau-associated tumors: an international patient survey.

The oncologist
2025

Real-world Experience of Embolization for Intracranial Tumors in Japan: Analysis of 2,756 Cases from Japanese Registry of NeuroEndovascular Therapy 4.

Neurologia medico-chirurgica
2025

Tumor-to-Tumor Metastasis in a Patient With Hemangioblastoma Unrelated to von Hippel-Lindau Disease: A Case Report and Review of the Literature.

Cureus
2025

Detection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.

Cancer genetics
2025

Unilateral Retinal Pigment Epithelium Dysgenesis (URPED): New Cases, Literature Review, and Considerations of the Similarities and Differences with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHRRPE).

Retinal cases &amp; brief reports
2025

A potential new entity pending further validation of pulmonary primary interstitial Tumor: Lymphangioleiomyomatosis-like.

Respiratory medicine case reports
2025

Clinicopathological evaluation of secondary conjunctival pigmentations following enucleation.

International ophthalmology
2025

Unilateral change of laryngeal adductor reflex and hiccups resolution after removal of bulbar hemangioblastoma: is there a connection?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.

Ophthalmology science
2025

Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.

Cancers
2025

Survival and Functional Outcomes Following Surgical Resection of Intramedullary Spinal Cord Tumors: A Series of 253 Patients over 22 Years.

Cancers
2025

Angiomatous, Predominantly Cystic Meningiomas: A Case Report and Literature Review of a Unique Group of Meningiomas.

Cureus
2025

Hypoxia Inducible Factor-2α (HIF-2α) Pathway Inhibitors.

Journal of kidney cancer and VHL
2025

Are dorsal column deficits inevitable in intramedullary spine tumor resection?

Journal of neurosurgery. Spine
2025

Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma-like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex.

Histopathology
2026

Outcomes After Stereotactic Radiosurgery for Intracranial Hemangioblastoma in Von Hippel-Lindau Disease and Sporadic Cases: An International Multicenter Study.

Neurosurgery
2025

When is belzutifan the right option for von Hippel-Lindau disease-associated hemangioblastomas?-a critical review of LITESPARK-004 results.

Translational cancer research
2025

Leptomeningeal hemangioblastoma: illustrative case.

Journal of neurosurgery. Case lessons
2025

Genotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.

Ophthalmic genetics
2025

A case of recurrent hemangioblastoma receiving blood supply from the mastoid and transosseous branches of the occipital artery.

Surgical neurology international
2024

Unilateral Pheochromocytoma in Von Hippel-Lindau Syndrome Revealed by a Hemangioblastoma.

Kathmandu University medical journal (KUMJ)
2025

Dual Inhibition of HIF-1α and HIF-2α as a Promising Treatment for VHL-Associated Hemangioblastomas: A Pilot Study Using Patient-Derived Primary Cell Cultures.

Biomedicines
2025

Unmasking a Hemangioblastoma: A Case of Obstructive Hydrocephalus in a 43-Year-Old Male Patient.

Cureus
2025

Spinal Hemangioblastoma: The Role of Imaging Characteristics in Preoperative Diagnosis and Surgical Planning.

Cureus
2025

Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.

PloS one
2025

Fatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.

ESMO open
2025

Diagnostic Challenges and Insights in Optic Nerve Hemangioblastoma using Magnetic Resonance Imaging: A Case Report.

Current medical imaging
2025

Rapid Clinical Deterioration of a Patient with a Posterior Fossa Hemangioblastoma and Extensive Cerebellar Ischemia: Report of a Unique Case.

Journal of neurological surgery. Part A, Central European neurosurgery
2025

Neurological Outcome of Spinal Hemangioblastomas: An International Observational Multicenter Study About 35 Surgical Cases.

Cancers
2025

Pediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.

Journal of endocrinological investigation
2025

Intramedullary Spinal Cord Tumors and Tumor-Like Lesions.

Magnetic resonance imaging clinics of North America
2025

Macular Neovascularization Related to Retinal Hemangioblastoma.

Retina (Philadelphia, Pa.)
2025

Belzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study.

The Lancet. Oncology
2025

Retinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.

Taiwan journal of ophthalmology
2025

Genotype-specific neoplastic risk profiles in patients with VHL disease.

Endocrine-related cancer
2026

Hemangioblastoma-like Clear Cell Stromal Tumor of the Lung: A Comprehensive Review With Insights From a Case.

Advances in anatomic pathology
2025

Anlotinib for the treatment of recurrent and refractory hemangioblastomas: a case report and review of literature.

Frontiers in oncology
2025

Factors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.

BMC cancer
2025

Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.

Journal of medical genetics
2026

Resection of a Cervical Spine Hemangioblastoma in Von Hippel-Lindau Disease: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2025

Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.

Journal of Korean Neurosurgical Society
2025

Stereotactic radiosurgery in the management of central nervous system hemangioblastomas: a systematic review and meta-analysis.

Neurosurgical review
2024

Surgical treatment of rare peripheral nerve lesions: long-term outcomes and quality of life.

Frontiers in oncology
2025

Diagnosis of shunt nephritis through cerebrospinal fluid culture: avoiding the need for kidney biopsy. Illustrative case.

Journal of neurosurgery. Case lessons
2025

"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.

The oncologist
2025

Novel Case of Bilateral Adrenal Tumors Confirms Pathogenicity of Previously Described c.463+4C>G Variant in the von-Hippel Lindau Gene.

Journal of kidney cancer and VHL
2025

Von Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.

Molecular biology reports
2024

Unveiling a TGFBI Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel-Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy.

Journal of current ophthalmology
2025

Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma.

Case reports in ophthalmology
2025

Local tumor control and neurological outcomes after surgery for spinal hemangioblastomas in sporadic and von Hippel-Lindau disease: A multicenter study.

Neuro-oncology
2025

[Retinal vasoproliferative tumor (retinal reactive astrocytic tumor)].

Journal francais d'ophtalmologie
2025

A New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.

Clinical journal of oncology nursing
2025

Morphology of Retinal Hemangioblastoma in von Hippel-Lindau Disease Revealed by Optical Coherence Tomography Angiography.

Klinische Monatsblatter fur Augenheilkunde
2025

Renal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.

Surgical pathology clinics
2024

Relationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.

Journal of kidney cancer and VHL
2025

Long-term surgical outcomes and prognosis of cervical spinal hemangioblastomas.

Clinical neurology and neurosurgery
2025

Letter to editor "Intraoperative indocyanine green (ICG) videoangiography in spinal hemangioblastoma surgery - helpful tool or unnecessary?" by Jan-Helge Klinger et al. [1].

Clinical neurology and neurosurgery
2025

Retinal capillary hemangioma in a pthisical globe: Late sequelae in a case of Von Hippel-Lindau (VHL) disease presenting with endophthalmitis.

International journal of surgery case reports
2025

Immunohistochemical Expression of PAX8 in Central Nervous System Hemangioblastomas: A Potential Diagnostic Pitfall for Neuropathologists.

Applied immunohistochemistry &amp; molecular morphology : AIMM
2025

Clinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.

Pathology, research and practice
2025

Belzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.

Journal of vitreoretinal diseases
2024

Endoscopic Keyhole Approach Is Useful in the Diagnosis and Removal of Cystic Cerebellar Hemangioblastoma: A Case Report.

NMC case report journal
2024

Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?

Journal of kidney cancer and VHL
2024

[Stereotactic radiotherapy of spinal hemangioblastoma].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2024

Lung clear cell mesenchymal tumor with a hemangioblastoma-like morphology: A systematic review.

Asian journal of surgery
2024

Glioma located on the right cerebellar hemisphere misdiagnosed as hemangioblastoma: A case report.

Asian journal of surgery
2025

Intraoperative indocyanine green (ICG) videoangiography in spinal hemangioblastoma surgery - helpful tool or unnecessary?

Clinical neurology and neurosurgery
2024

Integrated surgical intervention for intradural extramedullary hemangioblastoma of the cervical spine: a case report and literature review.

Frontiers in oncology
2024

Microsurgical Resection of a Vermian Hemangioblastoma Using the Occipital Interhemispheric Transtentorial Approach: 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2024

Von Hippel-Lindau disease with ocular and multiple systemic findings.

BMJ case reports
2024

Pediatric Spinal Vascular Abnormalities: Overview, Diagnosis, and Management.

Neuroimaging clinics of North America
2024

Spine Stereotactic Radiosurgery Provides Long-Term Local Control and Overall Survival for Benign Intradural Tumors.

Neurosurgery
2024

Spinal cord hemangioblastomas in von Hippel-Lindau disease.

Neuro-oncology advances
2024

Comparative analysis of stereotactic radiosurgery outcomes for supratentorial hemangioblastomas in von hippel-lindau disease and sporadic cases: A multi-center international study.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2025

Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.

Pediatric blood &amp; cancer
2024

Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.

PloS one
2024

Unique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.

Eye (London, England)
2024

Concurrence of Neurocysticercosis and Hemangioblastoma.

The American journal of tropical medicine and hygiene
2024

Application of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.

Clinical neuropathology
2024

Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

Genes
2024

A nonsecreting suprasellar ectopic pituitary adenoma: A case report.

Radiology case reports
2024

Clinical characteristics and surgical strategy of sporadic cerebellar hemangioblastomas.

Molecular and clinical oncology
2024

Belzutifan for patients with von Hippel-Lindau disease-associated CNS haemangioblastomas (LITESPARK-004): a multicentre, single-arm, phase 2 study.

The Lancet. Oncology
2025

Cranial and spinal computed tomography (CT) angiography with photon-counting detector CT: comparison with angiographic and operative findings.

Japanese journal of radiology
2024

Consensus guidelines for the management of posterior fossa tumour for low- and middle-income countries.

JPMA. The Journal of the Pakistan Medical Association
2024

Dual manifestations: spinal and cerebellar hemangioblastomas indicative of von Hippel-Lindau syndrome.

Radiology case reports
2024

Belzutifan in Individuals with von Hippel-Lindau Retinal Hemangioblastomas: Institutional Experience and Review of the Literature.

Ocular oncology and pathology
2024

Understanding Adult Central Nervous System Hemangioblastomas: A Systematic Review.

World neurosurgery
2024

Significant Improvement in Retinal Capillary Hemangioblastoma With Belzutifan.

Ophthalmic surgery, lasers &amp; imaging retina
2024

Innovative solutions? Belzutifan therapy for hemangioblastomas in Von Hippel-Lindau disease: A systematic review and single-arm meta-analysis.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2024

Spontaneous massive intraventricular hemorrhage due to hemangioblastoma in a child.

Asian journal of surgery
2024

Neurosurgical Implications of Targeting Hypoxia-Inducible Factor 2α in Hemangioblastomas with Belzutifan.

World neurosurgery
2024

Role of optical coherence tomography angiography in retinal tumors: A narrative review.

Indian journal of ophthalmology
2024

Trigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.

Journal of neurosurgery. Case lessons
2024

Radiosurgically Treated Recurrent Cerebellar Hemangioblastoma: A Case Report and Literature Review.

Current oncology (Toronto, Ont.)
2024

Optic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature.

Frontiers in oncology
2024

Belzutifan as the first-line treatment for a challenging von Hippel-Lindau-related retinal hemangioblastoma: successful treatment of a case and review of the literature.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2024

Pediatric intramedullary spinal cord tumors: A national cancer database analysis of demographics, patterns of care, and survival.

Clinical neurology and neurosurgery
2024

Late-Onset Manifestations of Von Hippel-Lindau Syndrome: A Case Report.

Cureus
2024

Cystic intracranial solitary fibrous tumor: a case report.

Frontiers in oncology
2024

Optical Coherence Tomography Angiography-Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel-Lindau Disease.

Translational vision science &amp; technology
2024

Cauda equina myxopapillary ependymoma in von Hippel-Lindau disease: A case report.

Surgical neurology international
2024

Characterization of spinal hemangioblastomas in patients with and without von Hippel-Lindau, and YAP expression.

Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia
2024

Incidence and Survival of Patients With Malignant Primary Spinal Cord Tumors: A Population-Based Analysis.

Neurospine
2025

Technical Considerations for the Surgical Management of a C2 Spinal Cord Hemangioblastoma and Subjacent Cervical Spondylotic Myelopathy: A 2-Dimensional Operative Video.

Operative neurosurgery (Hagerstown, Md.)
2024

Comprehensive treatment of von Hippel-Lindau disease: A case report.

Cancer innovation
2024

Arterial Spin-Labeling Perfusion Lightbulb Sign: An Imaging Biomarker of Pediatric Posterior Fossa Hemangioblastoma.

AJNR. American journal of neuroradiology
2024

An Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.

JCEM case reports
2024

Cerebellar Hemangioblastoma Mimicking Arteriovenous Malformation: A Case Report.

Cureus
2024

Oral Hypoxia-Inducible Factor 2α Inhibitor Belzutifan in Ocular von Hippel-Lindau Disease: Subgroup Analysis of the Single-Arm Phase 2 LITESPARK-004 Study.

Ophthalmology
2024

Somatostatin receptor 2A expression in von Hippel-Lindau-related hemangioblastomas.

Cancer
2024

Early surgical treatment of retinal haemangioblastomas: 10-year follow-up.

Acta ophthalmologica
2024

Expression of somatostatin receptors in hemangioblastomas associated with von Hippel-Lindau disease as a novel diagnostic, therapeutic, and follow-up opportunity: A case report and literature review.

Archives of endocrinology and metabolism
2024

Case Report of a Hemangioblastoma Originating from the T1 Spinal Nerve Treated with in Toto Resection, Hemicorporectomy and Pedicle Screw Stabilization.

Journal of orthopaedic case reports
2024

Preoperative embolization and microsurgical resection of a cerebellar hemangioblastoma: embolization goals and technical nuances of the approaches. Illustrative case.

Journal of neurosurgery. Case lessons
2024

Patients With Hemangioblastoma: Mood Disorders and Sleep Quality.

Brain tumor research and treatment
2024

Multimodal management of giant solid hemangioblastomas in two patients with preoperative embolization.

Surgical neurology international
2024

Differences and Advantages of Particles versus Liquid Material for Preoperative Intracranial Tumor Embolization: A Retrospective Multicenter Study.

Journal of neuroendovascular therapy
2024

A Cerebellar Tumor-to-Tumor Metastasis in a Patient With Von Hippel-Lindau Disease.

Applied immunohistochemistry &amp; molecular morphology : AIMM
2024

Diagnostic Role of Oral Fluorescein Angiography in Pediatric Ambulatory Clinics.

Ophthalmology. Retina
2024

Pre-operative Embolization of a Cerebellar Hemangioblastoma Using Polyvinyl Alcohol (PVA) and Target Tetra 360 Detachable Coil.

Cureus
2024

Prognostic Factors of Spinal Intramedullary Hemangioblastoma : Analysis of Surgical Outcomes and Tumor Characteristics.

Journal of Korean Neurosurgical Society
2024

Screening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.

Journal of neuro-oncology
2024

Longitudinal Pulse-Synchronous Bouncing During Catheter Angiography-A Phenomenon Specific to Spinal Hemangioblastomas.

World neurosurgery
Ver todos os 1.202 no EuropePMC

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Comparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.
    Brain &amp; spine· 2026· PMID 41853591mais citado
  2. Unusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.
    Journal of neuropathology and experimental neurology· 2026· PMID 41762700mais citado
  3. Pathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.
    The Journal of veterinary medical science· 2026· PMID 41692471mais citado
  4. Isolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.
    Surgical neurology international· 2026· PMID 41660352mais citado
  5. Whole-Genome Landscape of Retinal Hemangioblastomas.
    Translational vision science &amp; technology· 2026· PMID 41533848mais citado
  6. Optic disc and peripapillary tumors.
    Taiwan J Ophthalmol· 2026· PMID 41993661recente
  7. Giant Vulvar Vascular Lesion in Pregnancy: A Case Report.
    Int J Womens Health· 2026· PMID 41982797recente
  8. Trans-scleral cryotherapy in the management of retinal hemangioblastomas.
    Graefes Arch Clin Exp Ophthalmol· 2026· PMID 41964887recente
  9. Case Report: Sellar hemangioblastoma mimicking a pituitary macroadenoma: a diagnostic and surgical pitfall.
    Front Oncol· 2026· PMID 41959895recente
  10. Intraoperative Differentiation of Pilocytic Astrocytoma and Hemangioblastoma with Indocyanine Green Video Angiography.
    J Neurol Surg A Cent Eur Neurosurg· 2026· PMID 41956359recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:252054(Orphanet)
  2. MONDO:0016748(MONDO)
  3. GARD:8232(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q460937(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hemangioblastoma
Compêndio · Raras BR

Hemangioblastoma

ORPHA:252054 · MONDO:0016748
Prevalência
1-9 / 1 000 000
CID-10
D33.4 · Neoplasia benigna da medula espinhal
Ensaios
7 ativos
Início
Adult
Prevalência
0.14 (Worldwide)
MedGen
UMLS
C0206734
EuropePMC
Wikidata
Wikipedia
Papers 10a
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