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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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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
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Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.
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Mostrando amostra de 200 publicações de um total de 1.022
Comparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.
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.
Unusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.
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.
Pathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.
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.
Isolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.
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.
Whole-Genome Landscape of Retinal Hemangioblastomas.
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
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🥉 Relato de casoGiant Vulvar Vascular Lesion in Pregnancy: A Case Report.
Trans-scleral cryotherapy in the management of retinal hemangioblastomas.
🥉 Relato de casoCase Report: Sellar hemangioblastoma mimicking a pituitary macroadenoma: a diagnostic and surgical pitfall.
Intraoperative Differentiation of Pilocytic Astrocytoma and Hemangioblastoma with Indocyanine Green Video Angiography.
📖 Revisão📚 EuropePMC1.202 artigos no totalmostrando 198
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Molecular oncologyComparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.
Brain & spinePeritumoral Cystic Meningioma With Diagnostic Challenges: Two Case Reports and a Literature Review.
CureusNeuroendocrine Tumor of the Cauda Equina: A Report of a Rare Case With Histopathological and Immunohistochemical Correlation.
CureusYAP1::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 pathologyRare Case of Multifocal Spinal Hemangioblastomas With Holocord Syringo-Hydromyelia in an Adolescent Male.
CureusUnusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.
Journal of neuropathology and experimental neurologyFatal hemangioblastoma: a case report and literature review.
Frontiers in oncologyDiagnosis of Von Hippel-Lindau Syndrome Via Pancreatic Cyst Fluid Next-Generation Sequencing.
ACG case reports journalPathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.
The Journal of veterinary medical scienceBelzutifan-induced tumor regression in sporadic hemangioblastoma: a case report and literature review.
Journal of neuro-oncologyIsolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.
Surgical neurology internationalRetinal Capillary Hemangioblastoma: A Comprehensive Review on Treatments.
Ocular oncology and pathologyExploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.
Healthcare (Basel, Switzerland)Hemangioblastoma of the Kidney-A Comprehensive Clinical, Pathological, and Genetic Analysis of Four Cases.
APMIS : acta pathologica, microbiologica, et immunologica ScandinavicaNavigating the Unseen: A Rare Case of Intradural Extramedullary Spinal Hemangioblastoma and a Systematic Review of Surgical Challenges and Outcomes.
World neurosurgeryWhole-Genome Landscape of Retinal Hemangioblastomas.
Translational vision science & technology[A rare case of adrenal hemangioblastoma and literature review].
Zhonghua nei ke za zhiSurvival Impact of Surgery, Radiation, and Socioeconomic Factors in Spinal Hemangioblastoma: A Population-Based Study.
World neurosurgeryCombination tumors of the nervous system: A single-center analysis of a rare condition and comprehensive review of the literature.
Neuro-oncology advancesComplete involution of retinal hemangioblastoma with single session cryotherapy.
Journal francais d'ophtalmologieCerebellar Hemangioblastoma Resection Complicated by Postoperative Vasogenic Edema in the Setting of Concurrent Immunotherapy Treatment.
CureusAttention can shift the reference eye under binocular fusion failure: A case report.
Journal of visionBelzutifan for Ocular Tumors in Patients with von Hippel-Lindau Disease.
Ocular oncology and pathologyPineal region hemangioblastoma: a case report and literature review.
BMC surgeryPrognostic relevance of MIB-1 labeling index in VHL-associated and sporadic spinal hemangioblastomas: a subgroup analysis from a multicentric study.
Acta neuropathologica communicationsA rare case of conjunctival hibernoma in a von Hippel-Lindau (VHL) patient: Possible association?
European journal of ophthalmologyRetinal detachment risk in a cohort of von hippel-lindau patients at a Major U.S. tertiary care facility.
AJO internationalFamilial Von Hippel-Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations.
Life (Basel, Switzerland)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.
CancersRecurrent 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 pathologyPrimary cerebellar angiosarcoma: a rare case report and literature review.
BMC surgeryStereotactic radiosurgery as adjuvant or salvage treatment for sporadic hemangioblastomas: A multi-center international study.
Journal of the neurological sciencesPrimary hemangioblastoma of rectum: a rare case report and review of literature.
Journal of cancer research and clinical oncologyRenal Cell Carcinoma With Hemangioblastoma-Like Features and Leiomyomatous Stroma: A Rare Case Report and A Potential Pathological Diagnostic Pitfall.
International journal of surgical pathologyIatrogenic NORSE: Immune checkpoint inhibitor-related anti-GFAP autoimmune astrocytopathy.
Journal of neuroimmunologyAutonomic Dysfunction Following Surgical Resection of Cervicomedullary Hemangioblastoma: A Case Report and Literature Review.
CureusAll-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.
Clinical nuclear medicineRuptured Hemorrhagic Posterior Fossa Hemangioblastoma With Atypical Dissemination to Meckel's Cave.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesRenal 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 pathologyCase Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors.
Frontiers in geneticsBelzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.
BMC cancerCase report: Von Hippel-Lindau syndrome with multisystem involvement: a therapeutic dilemma.
Frontiers in oncologyIntramedullary Hemangioblastoma in the Cervical Spinal Cord of a Dog.
Case reports in veterinary medicineCanine Hemangioblastoma: Case Series and Literature Review.
Animals : an open access journal from MDPI[Cerebellar hemangioblastoma presenting with positional vertigo as the initial symptom: a case report and literature review].
Zhonghua yi xue za zhiIntraoperative neurophysiological monitoring in surgery for intramedullary spinal cord lesions - workflow, setup and outcomes.
Acta neurochirurgicaPredicting outcomes in spinal hemangioblastoma surgery: Role of post-operative neurological status.
Surgical neurology internationalCentripetal filling and pathological insights: a rare case of sporadic renal hemangioblastoma with literature review.
Frontiers in physiologyGross total resection is associated with improvement and prognosis even in von Hippel-Lindau disease-related hemangioblastomas: Nationwide registry in Japan.
Neuro-oncology practiceSurgical Outcomes and Prognostic Factors for Resectability of Intramedullary Spinal Cord Tumors Incorporating Intraoperative Neurophysiological Monitoring In Vietnam.
Medical archives (Sarajevo, Bosnia and Herzegovina)Laparoscopic Left Hepatectomy for Slowly Progressing Primary Hepatic Carcinosarcoma Associated With Von Hippel-Lindau Disease.
Asian journal of endoscopic surgeryRevealing a Heterozygous FCGR1A Variant in a Patient with Uveal Melanoma and Von Hippel-Lindau Syndrome: A Rare Case Report.
Journal of current ophthalmologyVON Hippel-Lindau syndrome: A rare case of epididymal cystadenoma associated with hemospermia.
Urology case reportsExpression of Follicle-Stimulating Hormone Receptor in Von Hippel-Lindau Associated Tumors and Cysts: An Immunohistochemical Study.
Journal of kidney cancer and VHLOutcomes of Pars Plana Vitrectomy in Complicated Retinal Detachment Secondary to Retinal Capillary Hemangioblastoma.
Medicina (Kaunas, Lithuania)Role of PPV in Advanced Retinal Hemangioblastoma-A Systematic Review.
International ophthalmology clinicsClinicopathological 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.
HistopathologySpontaneous separation of epiretinal membrane associated with retinal hemangioblastoma: a case report with 10-year follow-up.
American journal of ophthalmology case reportsThe 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 lessonsLong-term Safety and Efficacy of Belzutifan in Von Hippel-Lindau Syndrome: A VHL Coordinating Care Center Experience.
Journal of kidney cancer and VHLMathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.
PLoS computational biologyPancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.
Surgical case reportsPancreatic Involvement by Mixed Serous Neuroendocrine Neoplasm Detected by Endosonography With Fine-Needle Tissue Acquisition in Von Hippel-Lindau Disease.
CureusThe effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieDiagnosis and treatment of Von Hippel-Lindau syndrome: A case series.
Experimental and therapeutic medicineA case series of newly described rare mesenchymal tumors of the knee and the role of molecular testing in their histopathological diagnosis.
Pathology, research and practiceCerebellar Hemangioblastoma Masquerading as Recurrent Posterior Fossa Meningioma: A Case Report.
South Dakota medicine : the journal of the South Dakota State Medical AssociationPresentation, management, and clinical outcomes of von Hippel-Lindau syndrome.
Hong Kong medical journal = Xianggang yi xue za zhiRacial and socioeconomic disparities in long term survival after surgery and radiation for spinal cord hemangioblastoma.
Scientific reportsThe clinical features and real world treatment outcomes in von Hippel Lindau related retinal capillary hemangioblastomas.
International journal of retina and vitreousScreening for Von Hipple-Lindau gene mutation and management of cerebellar hemangioblastoma presenting as erythrocytosis.
Medical journal, Armed Forces IndiaRuthenium-106 Plaque Brachytherapy for the Management of Intraocular Tumors in Thailand: The First Report from Southeast Asia.
Seminars in ophthalmologyRenal haemangioblastoma: a clinicopathologic and molecular characterization of 8 cases supporting the presence of recurrent MTOR pathway alterations.
HistopathologyThe impact of surgery on patients with Von Hippel-Lindau-associated tumors: an international patient survey.
The oncologistReal-world Experience of Embolization for Intracranial Tumors in Japan: Analysis of 2,756 Cases from Japanese Registry of NeuroEndovascular Therapy 4.
Neurologia medico-chirurgicaTumor-to-Tumor Metastasis in a Patient With Hemangioblastoma Unrelated to von Hippel-Lindau Disease: A Case Report and Review of the Literature.
CureusDetection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.
Cancer geneticsUnilateral 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 & brief reportsA potential new entity pending further validation of pulmonary primary interstitial Tumor: Lymphangioleiomyomatosis-like.
Respiratory medicine case reportsClinicopathological evaluation of secondary conjunctival pigmentations following enucleation.
International ophthalmologyUnilateral 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 NeurophysiologyRisk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.
Ophthalmology scienceAdvancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
CancersSurvival and Functional Outcomes Following Surgical Resection of Intramedullary Spinal Cord Tumors: A Series of 253 Patients over 22 Years.
CancersAngiomatous, Predominantly Cystic Meningiomas: A Case Report and Literature Review of a Unique Group of Meningiomas.
CureusHypoxia Inducible Factor-2α (HIF-2α) Pathway Inhibitors.
Journal of kidney cancer and VHLAre dorsal column deficits inevitable in intramedullary spine tumor resection?
Journal of neurosurgery. SpineRenal 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.
HistopathologyOutcomes After Stereotactic Radiosurgery for Intracranial Hemangioblastoma in Von Hippel-Lindau Disease and Sporadic Cases: An International Multicenter Study.
NeurosurgeryWhen is belzutifan the right option for von Hippel-Lindau disease-associated hemangioblastomas?-a critical review of LITESPARK-004 results.
Translational cancer researchLeptomeningeal hemangioblastoma: illustrative case.
Journal of neurosurgery. Case lessonsGenotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.
Ophthalmic geneticsA case of recurrent hemangioblastoma receiving blood supply from the mastoid and transosseous branches of the occipital artery.
Surgical neurology internationalUnilateral Pheochromocytoma in Von Hippel-Lindau Syndrome Revealed by a Hemangioblastoma.
Kathmandu University medical journal (KUMJ)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.
BiomedicinesUnmasking a Hemangioblastoma: A Case of Obstructive Hydrocephalus in a 43-Year-Old Male Patient.
CureusSpinal Hemangioblastoma: The Role of Imaging Characteristics in Preoperative Diagnosis and Surgical Planning.
CureusFibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
PloS oneFatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.
ESMO openDiagnostic Challenges and Insights in Optic Nerve Hemangioblastoma using Magnetic Resonance Imaging: A Case Report.
Current medical imagingRapid 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 neurosurgeryNeurological Outcome of Spinal Hemangioblastomas: An International Observational Multicenter Study About 35 Surgical Cases.
CancersPediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.
Journal of endocrinological investigationIntramedullary Spinal Cord Tumors and Tumor-Like Lesions.
Magnetic resonance imaging clinics of North AmericaMacular Neovascularization Related to Retinal Hemangioblastoma.
Retina (Philadelphia, Pa.)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. OncologyRetinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.
Taiwan journal of ophthalmologyGenotype-specific neoplastic risk profiles in patients with VHL disease.
Endocrine-related cancerHemangioblastoma-like Clear Cell Stromal Tumor of the Lung: A Comprehensive Review With Insights From a Case.
Advances in anatomic pathologyAnlotinib for the treatment of recurrent and refractory hemangioblastomas: a case report and review of literature.
Frontiers in oncologyFactors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.
BMC cancerVery early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.
Journal of medical geneticsResection of a Cervical Spine Hemangioblastoma in Von Hippel-Lindau Disease: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
Journal of Korean Neurosurgical SocietyStereotactic radiosurgery in the management of central nervous system hemangioblastomas: a systematic review and meta-analysis.
Neurosurgical reviewSurgical treatment of rare peripheral nerve lesions: long-term outcomes and quality of life.
Frontiers in oncologyDiagnosis of shunt nephritis through cerebrospinal fluid culture: avoiding the need for kidney biopsy. Illustrative case.
Journal of neurosurgery. Case lessons"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
The oncologistNovel 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 VHLVon Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.
Molecular biology reportsUnveiling 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 ophthalmologyNovel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma.
Case reports in ophthalmologyLocal tumor control and neurological outcomes after surgery for spinal hemangioblastomas in sporadic and von Hippel-Lindau disease: A multicenter study.
Neuro-oncology[Retinal vasoproliferative tumor (retinal reactive astrocytic tumor)].
Journal francais d'ophtalmologieA New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.
Clinical journal of oncology nursingMorphology of Retinal Hemangioblastoma in von Hippel-Lindau Disease Revealed by Optical Coherence Tomography Angiography.
Klinische Monatsblatter fur AugenheilkundeRenal Neoplasia: Rare Subtypes and Uncommon Clinical Presentations.
Surgical pathology clinicsRelationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.
Journal of kidney cancer and VHLLong-term surgical outcomes and prognosis of cervical spinal hemangioblastomas.
Clinical neurology and neurosurgeryLetter 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 neurosurgeryRetinal 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 reportsImmunohistochemical Expression of PAX8 in Central Nervous System Hemangioblastomas: A Potential Diagnostic Pitfall for Neuropathologists.
Applied immunohistochemistry & molecular morphology : AIMMClinicopathological features and molecular genetic changes of primary renal hemangioblastoma, a TSC-associated tumor.
Pathology, research and practiceBelzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.
Journal of vitreoretinal diseasesEndoscopic Keyhole Approach Is Useful in the Diagnosis and Removal of Cystic Cerebellar Hemangioblastoma: A Case Report.
NMC case report journalIs the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?
Journal of kidney cancer and VHL[Stereotactic radiotherapy of spinal hemangioblastoma].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoLung clear cell mesenchymal tumor with a hemangioblastoma-like morphology: A systematic review.
Asian journal of surgeryGlioma located on the right cerebellar hemisphere misdiagnosed as hemangioblastoma: A case report.
Asian journal of surgeryIntraoperative indocyanine green (ICG) videoangiography in spinal hemangioblastoma surgery - helpful tool or unnecessary?
Clinical neurology and neurosurgeryIntegrated surgical intervention for intradural extramedullary hemangioblastoma of the cervical spine: a case report and literature review.
Frontiers in oncologyMicrosurgical Resection of a Vermian Hemangioblastoma Using the Occipital Interhemispheric Transtentorial Approach: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Von Hippel-Lindau disease with ocular and multiple systemic findings.
BMJ case reportsPediatric Spinal Vascular Abnormalities: Overview, Diagnosis, and Management.
Neuroimaging clinics of North AmericaSpine Stereotactic Radiosurgery Provides Long-Term Local Control and Overall Survival for Benign Intradural Tumors.
NeurosurgerySpinal cord hemangioblastomas in von Hippel-Lindau disease.
Neuro-oncology advancesComparative 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 AustralasiaPediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.
Pediatric blood & cancerGenotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.
PloS oneUnique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.
Eye (London, England)Concurrence of Neurocysticercosis and Hemangioblastoma.
The American journal of tropical medicine and hygieneApplication of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.
Clinical neuropathologyPhenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.
GenesA nonsecreting suprasellar ectopic pituitary adenoma: A case report.
Radiology case reportsClinical characteristics and surgical strategy of sporadic cerebellar hemangioblastomas.
Molecular and clinical oncologyBelzutifan for patients with von Hippel-Lindau disease-associated CNS haemangioblastomas (LITESPARK-004): a multicentre, single-arm, phase 2 study.
The Lancet. OncologyCranial and spinal computed tomography (CT) angiography with photon-counting detector CT: comparison with angiographic and operative findings.
Japanese journal of radiologyConsensus guidelines for the management of posterior fossa tumour for low- and middle-income countries.
JPMA. The Journal of the Pakistan Medical AssociationDual manifestations: spinal and cerebellar hemangioblastomas indicative of von Hippel-Lindau syndrome.
Radiology case reportsBelzutifan in Individuals with von Hippel-Lindau Retinal Hemangioblastomas: Institutional Experience and Review of the Literature.
Ocular oncology and pathologyUnderstanding Adult Central Nervous System Hemangioblastomas: A Systematic Review.
World neurosurgerySignificant Improvement in Retinal Capillary Hemangioblastoma With Belzutifan.
Ophthalmic surgery, lasers & imaging retinaInnovative 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 AustralasiaSpontaneous massive intraventricular hemorrhage due to hemangioblastoma in a child.
Asian journal of surgeryNeurosurgical Implications of Targeting Hypoxia-Inducible Factor 2α in Hemangioblastomas with Belzutifan.
World neurosurgeryRole of optical coherence tomography angiography in retinal tumors: A narrative review.
Indian journal of ophthalmologyTrigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.
Journal of neurosurgery. Case lessonsRadiosurgically Treated Recurrent Cerebellar Hemangioblastoma: A Case Report and Literature Review.
Current oncology (Toronto, Ont.)Optic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature.
Frontiers in oncologyBelzutifan 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'ophtalmologiePediatric intramedullary spinal cord tumors: A national cancer database analysis of demographics, patterns of care, and survival.
Clinical neurology and neurosurgeryLate-Onset Manifestations of Von Hippel-Lindau Syndrome: A Case Report.
CureusCystic intracranial solitary fibrous tumor: a case report.
Frontiers in oncologyOptical Coherence Tomography Angiography-Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel-Lindau Disease.
Translational vision science & technologyCauda equina myxopapillary ependymoma in von Hippel-Lindau disease: A case report.
Surgical neurology internationalCharacterization 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 CitologiaIncidence and Survival of Patients With Malignant Primary Spinal Cord Tumors: A Population-Based Analysis.
NeurospineTechnical 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.)Comprehensive treatment of von Hippel-Lindau disease: A case report.
Cancer innovationArterial Spin-Labeling Perfusion Lightbulb Sign: An Imaging Biomarker of Pediatric Posterior Fossa Hemangioblastoma.
AJNR. American journal of neuroradiologyAn Unusual Case of Pheochromocytoma Associated with von Hippel-Lindau Disease and Lynch Syndrome During Pregnancy.
JCEM case reportsCerebellar Hemangioblastoma Mimicking Arteriovenous Malformation: A Case Report.
CureusOral Hypoxia-Inducible Factor 2α Inhibitor Belzutifan in Ocular von Hippel-Lindau Disease: Subgroup Analysis of the Single-Arm Phase 2 LITESPARK-004 Study.
OphthalmologySomatostatin receptor 2A expression in von Hippel-Lindau-related hemangioblastomas.
CancerEarly surgical treatment of retinal haemangioblastomas: 10-year follow-up.
Acta ophthalmologicaExpression 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 metabolismCase Report of a Hemangioblastoma Originating from the T1 Spinal Nerve Treated with in Toto Resection, Hemicorporectomy and Pedicle Screw Stabilization.
Journal of orthopaedic case reportsPreoperative embolization and microsurgical resection of a cerebellar hemangioblastoma: embolization goals and technical nuances of the approaches. Illustrative case.
Journal of neurosurgery. Case lessonsPatients With Hemangioblastoma: Mood Disorders and Sleep Quality.
Brain tumor research and treatmentMultimodal management of giant solid hemangioblastomas in two patients with preoperative embolization.
Surgical neurology internationalDifferences and Advantages of Particles versus Liquid Material for Preoperative Intracranial Tumor Embolization: A Retrospective Multicenter Study.
Journal of neuroendovascular therapyA Cerebellar Tumor-to-Tumor Metastasis in a Patient With Von Hippel-Lindau Disease.
Applied immunohistochemistry & molecular morphology : AIMMDiagnostic Role of Oral Fluorescein Angiography in Pediatric Ambulatory Clinics.
Ophthalmology. RetinaPre-operative Embolization of a Cerebellar Hemangioblastoma Using Polyvinyl Alcohol (PVA) and Target Tetra 360 Detachable Coil.
CureusPrognostic Factors of Spinal Intramedullary Hemangioblastoma : Analysis of Surgical Outcomes and Tumor Characteristics.
Journal of Korean Neurosurgical SocietyScreening and surveillance recommendations for central nervous system hemangioblastomas in pediatric patients with Von Hippel-Lindau disease.
Journal of neuro-oncologyLongitudinal Pulse-Synchronous Bouncing During Catheter Angiography-A Phenomenon Specific to Spinal Hemangioblastomas.
World neurosurgeryAssociações
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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.
- Comparing laminectomy and unilateral hemilaminectomy in spinal hemangioblastoma resection: A multicenter study.
- Unusual immunohistochemical profiles in hemangioblastomas and their relevance in differential diagnosis: A comprehensive study of 112 cases.
- Pathological features and clinical outcomes of hemangioblastoma in the spinal cord of three dogs.
- Isolated cerebellar metastasis as the initial presentation of follicular thyroid carcinoma: A rare neurosurgical encounter.
- Whole-Genome Landscape of Retinal Hemangioblastomas.
- Optic disc and peripapillary tumors.
- Giant Vulvar Vascular Lesion in Pregnancy: A Case Report.
- Trans-scleral cryotherapy in the management of retinal hemangioblastomas.
- Case Report: Sellar hemangioblastoma mimicking a pituitary macroadenoma: a diagnostic and surgical pitfall.
- Intraoperative Differentiation of Pilocytic Astrocytoma and Hemangioblastoma with Indocyanine Green Video Angiography.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:252054(Orphanet)
- MONDO:0016748(MONDO)
- GARD:8232(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- 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.
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