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Academic literature on the topic 'Hemangioblastome'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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Journal articles on the topic "Hemangioblastome"

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Lu, Li, Peter A. Drew, and Anthony T. Yachnis. "Hemangioblastoma in the Lung: Metastatic or Primary Lesions?" Case Reports in Pathology 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/468671.

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Hemangioblastoma primarily occurs in the CNS, most commonly in the posterior fossa. Extracranial locations are less common, and metastatic tumor involving the lung is exceedingly rare with only three cases previously reported. Two were autopsy studies in patients who died of complications of the CNS hemangioblastomas in 1943 and 1981, and the third was mentioned in a case report addendum providing follow-up information on hepatic hemangioblastoma in 1991. We report a case of a 48-year-old man who presented with multiple lung nodules treated by surgical excision. Pathological study revealed features classic for hemangioblastoma. The patient had a remote history of hemangioblastomas having been excised from the posterior fossa 7 and 20 years previously. This report details a fourth case of metastatic pulmonary hemangioblastoma. It is the first report on surgically resected hemangioblastomas from the lung of a living patient with histological and immunohistochemical characterization.

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Kanno, Hiroshi, Seiki Osano, and Masamichi Shinonaga. "VHL-Associated Optic Nerve Hemangioblastoma Treated with Stereotactic Radiosurgery." Journal of Kidney Cancer and VHL 5, no. 2 (2018): 1–6. http://dx.doi.org/10.15586/jkcvhl.2018.104.

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Central nervous system hemangioblastomas are generally restricted to the cerebellum, spinal cord, and brainstem. Supratentorial hemangioblastomas are uncommon, and optic nerve hemangioblastomas are extremely rare, with fewer than 25 reports including this case. In this report, we present the case of a 36-year-old woman with von Hippel-Lindau (VHL) disease who presented with progressive diminution of vison in the left eye due to a retrobulbar optic nerve hemangioblastoma. The patient had a history of cerebellar /spinal hemangioblastomas and pancreatic cysts, and her father and brother were patients with VHL disease. Gadolinium enhanced MRI showed intraorbital retrobulbar enhanced mass on the left optic nerve. The optic nerve hemangioblastoma was treated with fractionated stereotactic radiosurgery using Novalis. Eighteen months after the stereotactic radiosurgery, the tumor volume decreased although the patient lost vision. This report presents an extremely rare case of optic nerve hemangioblastoma, which is the first case treated with stereotactic radiosurgery.

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Kondo, Takeo, Toshihiro Kumabe, Shin Maruoka, and Takashi Yoshimoto. "Diagnostic value of 201Tl—single-photon emission computerized tomography studies in cases of posterior fossa hemangioblastomas." Journal of Neurosurgery 95, no. 2 (2001): 292–97. http://dx.doi.org/10.3171/jns.2001.95.2.0292.

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Object. The 201Tl uptake index was evaluated for its usefulness in formulating a diagnosis of hemangioblastoma. Thallium-201—single-photon emission computerized tomography (SPECT) studies were performed in nine patients harboring hemangioblastomas in the posterior fossa and in five patients (six lesions) with gliomas in the posterior fossa. Methods. The 201Tl uptake index was defined as the ratio of mean counts of isotope per pixel in the tumor to mean counts of isotope per pixel in the homologous region of the healthy brain. The 201Tl uptake indices of the early image (TlE) and that of the delayed image (TlD) were calculated. The isotope retention index (RI) was calculated as (TlE − TlD)/TlE. The TlE was 2.7 ± 0.7 in hemangioblastomas and 2.9 ± 1.7 in gliomas (mean ± standard deviation). The TlD was 1.5 ± 0.4 in hemangioblastomas and 2.4 ± 1.6 in gliomas. There were no significant differences between hemangioblastomas and gliomas when TlEs and TlDs were compared. The isotope RI was 0.43 ± 0.07 in hemangioblastomas and 0.15 ± 0.1 in gliomas, showing a significantly higher RI in hemangioblastomas compared with gliomas (p < 0.01). Conclusions. Thallium-201 washout is significantly faster in hemangioblastomas. Hemangioblastoma is biologically benign, but contains a rich capillary network that forms a hypervascular tumor bed. Variations in its appearance on magnetic resonance images may cause difficulties in the differential diagnosis of hemangioblastoma. Thallium-201 SPECT studies can be used to distinguish hemangioblastomas from gliomas in the posterior fossa.

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Gläsker, Sven, Ansgar Berlis, Axel Pagenstecher, Vassilios I. Vougioukas, and Vera Van Velthoven. "Characterization of Hemangioblastomas of Spinal Nerves." Neurosurgery 56, no. 3 (2005): 503–9. http://dx.doi.org/10.1227/01.neu.0000153909.70381.c8.

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Abstract OBJECTIVE: Hemangioblastoma is classified as a benign tumor of the central nervous system. Peripheral nervous system hemangioblastomas to date have been described only in a few case reports. Experience in treating patients with these rare lesions, which harbor diagnostic and therapeutic pitfalls, is limited. METHODS: To characterize these lesions better, we reviewed our hemangioblastoma database for patients who underwent surgery for extradural hemangioblastoma of the spinal nerve. RESULTS: Between 1983 and 2003, six patients underwent surgery for spinal nerve hemangioblastomas at our institution. These tumors occurred in 2% of all patients with hemangioblastomas of the central nervous system, or 6% of all patients with spinal hemangioblastomas. The occurrence did not differ in von Hippel-Lindau disease cases versus sporadic cases. Radiographically, the tumors easily could be mistaken for schwannomas or metastases; however, they did have some typical features. If a hemangioblastoma was not suspected primarily, profuse bleeding could complicate surgery. Most of the tumors arose from the dorsal sensory fascicles. The vascular supply was from extradural circulation. In general, the surgical outcome of these lesions was good, and permanent neurological deficit was rare. However, local recurrence was observed in three of six patients. CONCLUSION: These tumors harbor diagnostic and therapeutic pitfalls. In general, the tumors are surgically more challenging, and clinically significant bleeding as well as local tumor recurrence is more common than in intradural hemangioblastomas, mostly because of the frequency of incorrect initial radiographic diagnosis. We suggest that because of the surgical consequences, hemangioblastoma should always be considered to be an important radiological differential diagnosis for nerve sheath tumors. Angiography can bring clarification to ambiguous cases.

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Acikalin, Mustafa Fuat, Ülkü Öner, Nilüfer Tel, Özgül Paşaoğlu, and Faruk Altınel. "Supratentorial Hemangioblastoma: A Case Report and Review of the Literature." Archives of Pathology & Laboratory Medicine 127, no. 9 (2003): e382-e384. http://dx.doi.org/10.5858/2003-127-e382-shacra.

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Abstract Central nervous system hemangioblastoma is a histologically benign tumor that usually occurs in the cerebellum. Supratentorial hemangioblastomas are exceedingly rare tumors. We present a case of cerebral hemangioblastoma, review the literature on supratentorial hemangioblastoma, and discuss the histologic characteristics and diagnostic difficulties associated with such lesions.

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Kanno, Hiroshi, Natsuki Kobayashi, and Satoshi Nakanowatari. "Pathological and Clinical Features and Management of Central Nervous System Hemangioblastomas in von Hippel-Lindau Disease." Journal of Kidney Cancer and VHL 1, no. 4 (2014): 46–55. http://dx.doi.org/10.15586/jkcvhl.2014.12.

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Central nervous system (CNS) hemangioblastoma is the most common manifestation of von Hippel-Lindau (VHL) disease. It is found in 70-80% of VHL patients. Hemangioblastoma is a rare form of benign vascular tumor of the CNS, accounting for 2.0% of CNS tumors. It can occur sporadically or as a familial syndrome. CNS hemangioblastomas are typically located in the posterior fossa and the spinal cord. VHL patients usually develop a CNS hemangioblastoma at an early age. Therefore, they require a special routine for diagnosis, treatment and follow-up. The surgical management of symptomatic tumors depends on many factors such as symptom, location, multiplicity, and progression of the tumor. The management of asymptomatic tumors in VHL patients is controversial since CNS hemangioblastomas grow with intermittent quiescent and rapid-growth phases. Preoperative embolization of large solid hemangioblastomas prevents perioperative hemorrhage but is not necessary in every case. Radiotherapy should be reserved for inoperable tumors. Because of complexities of VHL, a better understanding of the pathological and clinical features of hemangioblastoma in VHL is essential for its proper management.

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Gläsker, Sven, and Vera Van Velthoven. "Risk of Hemorrhage in Hemangioblastomas of the Central Nervous System." Neurosurgery 57, no. 1 (2005): 71–76. http://dx.doi.org/10.1227/01.neu.0000163250.71951.18.

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Abstract OBJECTIVE: Hemangioblastomas are benign vascular tumors of the central nervous system. Several cases of spontaneous hemorrhage within these tumors have been reported. However, the risk of hemorrhage in these tumors remains unknown. METHODS: To clarify the incidence of hemorrhage in hemangioblastomas, we reviewed our large clinical database of 277 patients with central nervous system hemangioblastomas for the incidence of spontaneous or perioperative hemorrhage. Clinical characteristics such as tumor size, tumor location, von Hippel-Lindau disease status, and clinical symptoms before hemorrhage were correlated with hemorrhage risk. Furthermore, we reviewed the literature for cases of spontaneous hemorrhage from hemangioblastoma. RESULTS: Among all patients in our series, we observed seven cases of spontaneous hemorrhage from a hemangioblastoma within the summarized follow-up time. Thus, we calculate a spontaneous hemorrhage probability of 0.0024 per person per year. The average diameter of tumors that bled was 3 cm in our series and 2.3 cm in the literature review, whereas the average diameter of hemangioblastomas in major series ranges from 0.8 to 1.1 cm. Furthermore, we have observed severe postoperative hemorrhage in two extraordinarily large solid hemangioblastomas (4 and 5 cm). CONCLUSION: The overall incidence of hemorrhage in patients with hemangioblastoma is low. An important indicator for the probability of hemorrhage is tumor size, as spontaneous or postoperative hemorrhage occurred exclusively in extraordinarily large tumors. Hemangioblastomas smaller than 1.5 cm (the vast majority of these tumors) harbor virtually no risk of spontaneous hemorrhage.

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Krieg, Marion, Hugo H. Marti, and Karl H. Plate. "Coexpression of Erythropoietin and Vascular Endothelial Growth Factor in Nervous System Tumors Associated With von Hippel-Lindau Tumor Suppressor Gene Loss of Function." Blood 92, no. 9 (1998): 3388–93. http://dx.doi.org/10.1182/blood.v92.9.3388.

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Abstract Hemangioblastomas are highly vascular tumors of the central nervous system that overexpress the hypoxia-inducible gene, vascular endothelial growth factor (VEGF), as a consequence of mutational inactivation of the von Hippel-Lindau tumor suppressor gene (VHL). Previous reports showed that hemangioblastomas can also express erythropoietin (Epo), which is also hypoxia-inducible. However, Epo expression in hemangioblastomas was observed only in individual cases, and the analyses were mainly based on indirect determination of erythropoiesis-stimulating activity. Therefore, we analyzed a series of 11 hemangioblastomas for Epo, VEGF, and VHL expression by Northern blot analysis and compared the results with normal brain and glioblastomas. Surprisingly, we observed Epo mRNA expression in all hemangioblastoma specimens analyzed, but in none of four glioblastomas. In contrast, VEGF mRNA was expressed in all hemangioblastomas and all glioblastomas. In situ hybridization revealed neoplastic stromal cells as Epo- and VEGF-producing cells in hemangioblastomas. These results suggest that in the nonhypoxic microenvironment of hemangioblastoma, Epo, similar to VEGF, might be negatively regulated by the VHL gene product. © 1998 by The American Society of Hematology.

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Krieg, Marion, Hugo H. Marti, and Karl H. Plate. "Coexpression of Erythropoietin and Vascular Endothelial Growth Factor in Nervous System Tumors Associated With von Hippel-Lindau Tumor Suppressor Gene Loss of Function." Blood 92, no. 9 (1998): 3388–93. http://dx.doi.org/10.1182/blood.v92.9.3388.421a09_3388_3393.

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Hemangioblastomas are highly vascular tumors of the central nervous system that overexpress the hypoxia-inducible gene, vascular endothelial growth factor (VEGF), as a consequence of mutational inactivation of the von Hippel-Lindau tumor suppressor gene (VHL). Previous reports showed that hemangioblastomas can also express erythropoietin (Epo), which is also hypoxia-inducible. However, Epo expression in hemangioblastomas was observed only in individual cases, and the analyses were mainly based on indirect determination of erythropoiesis-stimulating activity. Therefore, we analyzed a series of 11 hemangioblastomas for Epo, VEGF, and VHL expression by Northern blot analysis and compared the results with normal brain and glioblastomas. Surprisingly, we observed Epo mRNA expression in all hemangioblastoma specimens analyzed, but in none of four glioblastomas. In contrast, VEGF mRNA was expressed in all hemangioblastomas and all glioblastomas. In situ hybridization revealed neoplastic stromal cells as Epo- and VEGF-producing cells in hemangioblastomas. These results suggest that in the nonhypoxic microenvironment of hemangioblastoma, Epo, similar to VEGF, might be negatively regulated by the VHL gene product. © 1998 by The American Society of Hematology.

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Pluta, Ryszard M., Scott D. Wait, John A. Butman, et al. "Sacral hemangioblastoma in a patient with von Hippel–Lindau disease." Neurosurgical Focus 15, no. 2 (2003): 1–4. http://dx.doi.org/10.3171/foc.2003.15.2.11.

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Hemangioblastomas are histologically benign neoplasms that occur sporadically or as part of von Hippel–Lindau disease. Hemangioblastomas may occur anywhere along the neuraxis, but sacral hemangioblastomas are extremely rare. To identify features that will help guide the operative and clinical management of these lesions, the authors describe the management of a large von Hippel–Lindau disease–associated sacral hemangioblastoma and review the literature. The authors present the case of a 38-year-old woman with von Hippel–Lindau disease and a 10-year history of progressive back pain, as well as left lower-extremity pain and numbness. Neurological examination revealed decreased sensation in the left S-1 and S-2 dermatomes. Magnetic resonance imaging demonstrated a large enhancing lesion in the sacral region, with associated erosion of the sacrum. The patient underwent arteriography and embolization of the tumor and then resection. The histopathological diagnosis was consistent with hemangioblastoma and showed intrafascicular tumor infiltration of the S-2 nerve root. At 1-year follow-up examination, pain had resolved and numbness improved. Sacral nerve root hemangioblastomas may be safely removed in most patients, resulting in stabilization or improvement in symptomatology. Generally, hemangioblastomas of the sacral nerve roots should be removed when they cause symptoms. Because they originate from the nerve root, the nerve root from which the hemangioblastoma originates must be sacrificed to achieve complete resection.

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Dissertations / Theses on the topic "Hemangioblastome"

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TOURNON, NICOLAS. "Imagerie par resonance magnetique des hemangioblastomes : a propos de 9 observations." Toulouse 3, 1989. http://www.theses.fr/1989TOU31544.

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Ruffie, Philipppe. "L'hémangioblastome de la moelle cervicale : à propos de quatre cas." Montpellier 1, 1998. http://www.theses.fr/1998MON11054.

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ZEZE, DJOLO GUY. "Hemangioblastomes retiniens (tumeurs de von hippel) : aspects diagnostiques et therapeutiques." Nantes, 1992. http://www.theses.fr/1992NANT099M.

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Cavalcanti, Daniel Dutra. "Análise quantitativa dos principais acessos cirúrgicos ao tronco encefálico com ênfase nas áreas de segurança." Universidade de São Paulo, 2018. http://www.teses.usp.br/teses/disponiveis/5/5138/tde-17082018-093448/.

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INTRODUÇÃO: O tronco encefálico é uma pequena estrutura com elevada concentração de núcleos e tratos. Historicamente, houve grande debate sobre indicações cirúrgicas às lesões no tronco encefálico. A despeito do desenvolvimento da microcirurgia, cirurgia da base do crânio e da neuronavegação, poucos grupos têm experiência no manejo daquelas lesões. Quando lesões no tronco encefálico não afloram à superfície pial, torna-se crucial o conhecimento de áreas de segurança de acesso ao tronco, as quais representam estreitos corredores em que há paucidade de estruturas eloquentes e ausência de vasos perfurantes. OBJETIVO: Quantificar a área de trabalho gerada pelos acessos cirúrgicos mais comumente utilizados ao tronco encefálico, além de definir as exposições angulares geradas pelos mesmos acessos às áreas de segurança por meio de dissecções cadavéricas. Adicionalmente, detalhamos a anatomia cirúrgica de treze acessos ao tronco encefálico, com fotografias passo a passo e descrições detalhadas para auxiliar na melhor difusão destas técnicas. MÉTODOS: Foi realizada dissecção anatômica de 10 cadáveres humanos para demonstração de 13 acessos cirúrgicos ao tronco encefálico e da anatomia das seguintes zonas de segurança: mesencefálica anterior, sulco mesencefálico lateral, intercolicular, peritrigeminal, supra-trigeminal, pontina lateral, supra-colicular, infra-colicular, sulco mediano do quarto ventrículo, sulco posteromediano e olivar. Os acessos estudados foram: orbitozigomático, subtemporal, subtemporal transtentorial, subtemporal transtentorial com petrosectomia anterior, suboccipital telovelar, supracerebelar infratentorial mediano, paramediano e lateral, retrossigmoideo, extremo lateral, petrosectomia anterior, retrolabiríntico, e combinado. A dissecção foi realizada entre Janeiro a Julho de 2010, no Laboratório de Base de Crânio do Barrow Neurological Institute, localizado em Phoenix, Arizona, EUA. Os espécimes fixados em formalina e com artérias e veias perfundidas com silicone colorido foram dissecados em suporte de Mayfield em mesa cirúrgica, com todo instrumental cirúrgico simulando um ambiente operatório. Após cada acesso, neuronavegador era utilizado para coletar coordenadas tridimensionais de pontos pré-definidos nas craniotomias e no campo operatório, os quais após análise em software específico, se traduziam em valores das seguintes variáveis: área de exposição, exposição angular e extensão de exposição. Os resultados obtidos foram comparados quando havia interseção de área ou zona de segurança. RESULTADOS: A área de exposição média do orbitozigomático no tronco foi de 164,7 ± 43,6 mm2. A exposição angular horizontal à zona mesencefálica anterior foi 37,9 ± 7,3o. A área média produzida pelo retrossigmoide foi 538,6 ± 161,0 mm2. As exposições angulares horizontal e vertical médias geradas por esse corredor para a zona pontina lateral foram 31,1 ± 6,7o e 49,3 ± 9,4o, respectivamente. A área média produzida pelo far-lateral foi 856,8 ± 139,7 mm2. As exposições angulares horizontal e vertical médias deste acesso para a zona olivar foram 40,8 ± 10,2o e 54,8 ± 6,8o. CONCLUSÃO: O acesso orbitozigomático oferece mínima área de exposição do tronco, mas melhor trajetória em relação à zona mesencefálica anterior que o subtemporal. O supracerebelar infratentorial extremo lateral oferece melhor trajetória e ângulos ao sulco mesencefálico lateral que o subtemporal. Não há diferença significativa entre as áreas de exposição e exposições angulares ao tronco entre o retrossigmoide e retrolabiríntico, mas este último oferece trajetória mais direta<br>INTRODUCTION: The brainstem is a small structure disposing of high concentration of nuclei and tract. Historically, there was enormous discussion on surgical indications to brainstem lesions. In spite of the evolution of microsurgery, skull base surgery, and neuronavigation, few groups bear experience managing this pathology. Whenever lesions do not surface on pia or ependyma, it is key using the safe entry zones, managing the brainstem, which represent tiny corridors where eloquent structures and perforators are sparse. OBJECTIVE: To quantify the working area provided by the main surgical approaches to brainstem, as well as angles of attack provided by the same approaches to the safe zones through cadaveric dissections. It was possible at the same time to detail the microanatomy of thirteen approaches, with stepwise images and descriptions, in order to aid spreading this knowledge in Portuguese. METHODS: Ten human cadavers were dissected in order to visually demonstrate 13 surgical approaches to brainstem and these safe zones: anterior mesencephalic, lateral mesencephalic sulcus, intercolicular, peritrigeminal, supratrigeminal, lateral pontine, supracollicular, infracollicular, median sulcus of the fourth ventricle, posteromedian sulcus and olivary. The following approaches were analyzed: orbitozigomatic, subtemporal, subtemporal transtentorial, subtemporal transtentorial with anterior petrosectomy, median suboccipital telovelar, median, paramedian and lateral supracerebellar infratentorial, retrossigmoid, far-lateral, anterior petrosectomy, retrolabyrinthine, and combined. Dissections were carried out from January to July 2010, at the Skull Base Laboratory in the Barrow Neurological Institute, Phoenix, Arizona, USA. The specimens were lightly fixed in formalin while arteries and veins were perfused with color silicone. They were dissected on a Mayfield head-holder, using a complete set of surgical instruments simulating an operative environment. Neuronavigation was utilized after every approach to collect tridimensional coordinates of predefined points on the craniotomy edges and within the surgical field. Using a specific software, these coordinates translate themselves into the following variables: areas of exposure, angles of attack and lengths of exposure. The variables were compared among them when 2 or more approaches addressed overlapped areas. RESULTS: The mean area of exposure provided by the orbitozygomatic on the brainstem was 164,7 ± 43,6 mm2. The horizontal angle of attack to the anterior mesencephalic zone was 37,9 ± 7,3o. Mean area delivered by the retrosigmoid was 538,6 ± 161,0 mm2. Mean horizontal and vertical angles of attack produced by this corridor aiming the lateral pontine zone were 31,1 ± 6,7o e 49,3 ± 9,4o, respectively. The farlateral approach produced a mean area of exposure of 856,8 ± 139,7 mm2. Mean horizontal and vertical angles of attack offered by this avenue aiming the olivary zone were 40,8 ± 10,2o e 54,8 ± 6,8o. CONCLUSION: The orbitozygomatic approach provides a minimum area of exposure, but a better trajectory concerning the anterior mesencephalic zone comparing to the subtemporal. The extreme lateral supracerebellar infratentorial yields better trajectory and wider angles to the lateral mesencephalic sulcus than the subtemporal. There is no significant difference regarding areas of exposure and angles of attack to the brainstem between the retrosigmoid and retrolabyrithine, but the latter produces a more direct trajectory

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Pantigozo-Rimachi, Andrea, Giuliana Murillo-Díaz, Nilton Yhuri Carreazo, and Dávila Victor Manuel Cucho. "Von Hippel-Lindau disease with extramedullary and pancreatic involvement." Elsevier B.V, 2020. http://hdl.handle.net/10757/655630.

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Niemelä, Mika. "Hemangioblastomas of the central nervous system and retina impact of von Hippel-Lindau disease." Helsinki : University of Helsinki, 2000. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/niemela/.

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Azevedo, Patrícia Ribeiro. "CARACTERIZAÇÃO MOLECULAR DO GENE VHL ASSOCIADO À SÍNDROME VON HIPPEL LINDAU EM UMA FAMÍLIA AFRODESCENDENTE COM HEMANGIOBLASTOMA DE SISTEMA NERVOSO CENTRAL NO ESTADO DO MARANHÃO." Universidade Federal do Maranhão, 2013. http://tedebc.ufma.br:8080/jspui/handle/tede/71.

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Made available in DSpace on 2016-08-16T18:18:42Z (GMT). No. of bitstreams: 1 Tese PATRICIA RIBEIRO AZEVEDO.pdf: 3836248 bytes, checksum: 69781a9e30881bb327b2148598b3fe8e (MD5) Previous issue date: 2013-06-24<br>FUNDAÇÃO DE AMPARO À PESQUISA E AO DESENVOLVIMENTO CIENTIFICO E TECNOLÓGICO DO MARANHÃO<br>The von Hippel Lindau syndrome (VHL) is an autosomal dominant disorder with an incidence of 1:36.000 to 1:53.000 individuals, characterized by multiple tumors, affecting individuals of twenty and forty years, with life expectancy of 60 years. The objective of this study was to characterize the molecular changes in the VHL gene associated with von Hippel Lindau syndrome in a family of African descent with hemangioblastoma of the central nervous system in the state of Maranhão. For investigation of the family history, all family members were interviewed, and performed molecular analysis of seven patients with clinical diagnosis of VHL and 89 family members at risk. For DNA extraction was used peripheral blood. The technique used was the amplification of multiplex ligation probes dependent binding (MLPA). After PCR- MLPA, was performed sequencing and the software GeneMaker was used for screening of mutations. The research followed the ethical precepts. We investigated the family history of the eight individuals of African descent carriers hemangioblastomas of the central nervous system. In addition to this injury, these individuals had retinal hemangioblastoma, pancreatic cyst and bilateral kidney tumor. The average age of first presentation of the lesion was 29 years, not having occurred predominantly in relation to gender. In the screening protocol was not evidenced pheochromocytoma. No injuries were surveyed in the reproductive system because of the absence of symptoms. The molecular test detected the deletion c.1-? _340 +? in all symptomatic individuals and 14 family members. The MLPA, technique has proven to be fast and reliable for diagnosis of large deletions. A positive family history, the absence of pheochromocytoma and detection of genomic deletion of exon 1, allowed the clinical diagnosis and molecular VHL syndrome and classification as type 1. In this study it was possible to evaluate, in addition to the proband, other family members. This approach decreases the morbidity of the disease and provides a better quality of life for families.<br>A síndrome de von Hippel Lindau (VHL) é uma doença autossômica dominante, com incidência de 1:36.000 a 1:53.000 indivíduos, caracterizada por múltiplos tumores, acometendo os indivíduos entre vinte e quarenta anos, sendo a expectativa de vida de 60 anos O objetivo deste estudo foi caracterizar a base molecular do gene VHL associado à Síndrome von Hippel Lindau em uma família com hemangioblastoma de sistema nervoso central no Estado do Maranhão. Para investigação da história familiar, foram entrevistados todos os familiares, sendo realizada análise molecular de sete indivíduos com diagnóstico clínico de VHL e 89 familiares em risco. Para extração de DNA foi utilizado sangue periférico. A técnica utilizada foi a amplificação de múltiplas sondas dependente de ligação (MLPA). Após a PCR-MLPA foi realizado sequenciamento e utilizado o programa GeneMaker para a triagem de mutações. A pesquisa obedeceu aos preceitos éticos. Foi investigada a história familiar dos oito indivíduos afrodescendentes portadores de hemangioblastomas de sistema nervoso central. Além dessa lesão, um indivíduo apresentou hemangioblastoma de retina, um apresentou cisto no pâncreas e outro apresentou massa tumoral bilateral no rim. A média de idade da primeira apresentação da lesão foi de 29 anos, não tendo ocorrido predominância em relação ao sexo. No protocolo de rastreamento não foi evidenciado feocromocitoma. Não foram pesquisadas lesões no sistema reprodutor devido ausência de sintomatologia. No teste molecular foi detectada a deleção c.1-?_340+? em sete indivíduos sintomáticos e em 14 familiares. A técnica MLPA demonstrou ser rápida e segura para diagnóstico de grandes deleções. A história familiar positiva, ausência de feocromocitoma e a detecção da deleção genômica do exon 1, permitiu o diagnóstico clínico e molecular da síndrome VHL e a classificação como tipo 1. Neste estudo foi possível avaliar, além do probando, os outros familiares. Essa conduta poderá diminuir a morbimortalidade da doença e proporciona uma melhor qualidade de vida aos familiares.

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Pessolato, Alícia Greyce Turatti. "Caracterização das células-tronco do saco vitelino e análise ultraestrutural da membrana vitelina de embriões ovinos (Ovis aries)." Universidade de São Paulo, 2011. http://www.teses.usp.br/teses/disponiveis/10/10132/tde-07082012-183204/.

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O saco vitelino é o único anexo embrionário presente em todas as espécies dos embriões vertebrados, répteis, aves e mamíferos. Em mamíferos domésticos o saco vitelino é inicialmente grande, pois nestas espécies ele é transitório. Após a implantação, surge no mesênquima lateral à notocorda agrupamentos de células, denominados ilhotas sanguíneas, que representam os progenitores dos sistemas vascular e hematopoético: os hemangioblastos. Os hemangioblastos centrais das ilhas sanguíneas formam as primeiras células-tronco hematopoéticas, enquanto os hemangioblastos periféricos se diferenciam em angioblastos, os precursores dos vasos sanguíneos. O desenvolvimento inicial da atividade hematopoética no saco vitelino conduz a hipótese de que esse tecido é o local primário de desenvolvimento hematopoético e que as células-tronco derivadas dele semeiam os outros sítios intraembriônicos. Foi possível observar nas análises microscópicas que realmente existe uma relação entre ambas linhagens. Nas análises de expressão gênica, alguns genes expressos pelo hemangioblasto apresentaram alta expressão nas análises D+0 e outros genes também específicos do hemangioblasto, porém em estágios secundários de diferenciação como os encontrados na região aórtica, a nível de endotélio hemogênico apresentaram altos níveis de expressão após 3 dias em cultivo. Concluímos portanto, que o saco vitelino por ser o local primário de formação das células sanguíneas e endoteliais nos estágios iniciais da embriogênese, por serem primitivas e, portanto não expressarem marcadores de células maduras na sua superfície, tornam estas células uma importante fonte de células-tronco relevante para a Terapia Celular para hemofilia e muitas outras doenças humanas.<br>The yolk sac is the single attachment embryo present in all species of vertebrate embryos, reptiles, birds and mammals. In domestic mammals the yolk sac is initially large, since these species it is transient. After implantation, appears in the lateral mesenchyme to the notochord cell clusters, called \"blood islands\" that represent the progenitors of vascular and hematopoietic systems: the hemangioblasts. The central islands hemangioblasts form the first blood hematopoietic stem cells, while peripheral hemangioblasts, the angioblastic differentiate into the precursors of blood vessels. The initial development of the yolk sac hematopoietic activity leads to the hypothesis that this tissue is the primary site of development and that hematopoietic stem cells derived from them sow other intraembryos sites. It was observed in the microscopic analysis that there is indeed a relationship between the two lineages. In the analysis of gene expression, some genes expressed by hemangioblasts showed high expression in D+0 and other specific genes also hemangioblasts, but in secondary stages of differentiation as found in the aortic region, the level of hemogenic endothelium showed high levels of expression after 3 days in culture. We therefore conclude that the yolk sac to be the primary site of formation of blood and endothelial cells in the early stages of embryogenesis, for its cells be primitive and therefore do not express markers of mature cells on the surface, these cells become an important source of cells relevant to stem cell therapy for hemophilia and many other human diseases.

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Costa, Everton de Brito Oliveira. "Caracterização das Células-Tronco/Progenitoras Hematopoéticas obtidas de Células-Tronco Embrionárias Humanas In Vitro em Sistema de Co-Cultivo com Fibroblastos de Embriões Murinos." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-14062012-131047/.

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A hematopoese tem sido bem descrita em modelos murinos nas últimas décadas, contudo, trabalhos demonstrando os mecanismos da hematopoese em humanos ainda são escassos. A derivação da primeira linhagem de células-tronco embrionárias humanas (CTEhs) em 1998, gerou novas perspectivas tanto para o estudo da hematopoese na tentativa de mimetizar o que ocorre naturalmente durante o desenvolvimento embrionário, quanto para a aplicação clínica das células hematopoéticas obtidas a partir da diferenciação dessas células. Contudo, apesar de inúmeros trabalhos terem demonstradoa obtenção de células hematopoéticas a partir de CTEhs, os protocolos têm gerado quantidades variáveis de células, com baixa eficiência e com propriedades funcionais de células primitivas. Desse modo, este trabalho procurou estabelecer um modelo próprio de diferenciação de CTEhs-H1 em células progenitoras hematopoéticas para que estas pudessem ser melhor caracterizadas e obtidas de forma mais eficiente. Para isto, foi desenvolvido um sistema de diferenciação baseado no co-cultivo da linhagem de CTEh-H1 com fibroblastos de embrião de camundongo (MEFs), em meio de diferenciação suplementado soro fetal bovino (SFB) e citocinas e fatores de crescimento hematopoéticos em baixas concentrações. Como resultado, o desenvolvimento do presente trabalho permitiu o estabelecimento de um método para geração de populações mistas de células enriquecidas em CPHs positivas para o marcador CD45, o qual mostrou ser coexpresso com outros marcadores hematopoéticos (CD31, CD43, CD71 e CD38), e células hematopoéticas maduras positivas para marcadores mielóide-específicos (235a, CD14, CD15, CD16) e com características morfológicas típicas. Foi demonstrado que as células obtidas expressavam genes relativos ao sistema hematopoético (CD45, CD31, runx1, tal1, lmo2, prom1, CD34 e notch1), e possuíam potencial clonogênico in vitro da ordem de 1/574 células plaqueadas. Em adição, corroboramos os achados de que as células hematopoéticas apresentam duas origens distintas: a partir do endotelio hemogênico e a partir de células com propriedades hemangioblásticas independentes do endotélio hemogênico.<br>Hematopoiesis has been well described in murine models in recent decades, however, studies demonstrating the mechanisms of hematopoiesis in humans are still scarce. The first human embryonic stem cells line (hESCs) derived in 1998, has generated new perspectives about the study of hematopoiesis as in attempting to mimic what naturally occurs during embryonic development, as for clinical application of hematopoietic cells obtained from the differentiation of these cells. However, although numerous studies have shown the production of hematopoietic cells derived from hESCs, the protocols have generated varying quantities of cells with low efficiency and functional properties of primitive stem cells. Thus, this study sought to establish our own model for hESC-H1 differentiation in hematopoietic progenitor cells so that they could be better characterized and obtained more efficiently. For this way, we developed a differentiation system based on co-culture of hESC-H1 line with inactivated mouse embryonic fibroblasts (MEFs) in differentiation medium supplemented with fetal calf serum (FCS) and cytokines and hematopoietic growth factors in low concentrations. As a result, the development of this study allowed the establishment of a method for generation of mixed population of cells enriched in hematopoietic progenitor cells positive for the marker CD45, which proved to be co-expressed with other hematopoietic markers (CD31, CD43, CD71 and CD38), and mature hematopoietic cells positive for myeloid-specific markers (235a, CD14, CD15, CD16) and morphological characteristics typical. It was shown that these cells expressed genes related to the hematopoietic system (CD45, CD31, runx1, TAL1, LMO2, prom1, CD34 and NOTCH1), and had clonogenic potential in vitro of 1/574 plated cells. In addition, we corroborate the findings that hematopoietic cells have two distinct origins: they can arise as from an hemogenic endothelium as from cells with hemangioblastic properties by an hemogenic endothelium-independent way.

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Santos, Ana Margarida Lopes dos. "Hemangioblastoma." Master's thesis, 2014. http://hdl.handle.net/10400.6/4899.

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O termo “hemangioblastoma”, originalmente introduzido por Cushing & Bailey em 1928, descreve uma neoplasia benigna altamente vascularizada e de crescimento lento que acomete tipicamente o sistema nervoso central. Também conhecidos como “hemangioblastomas capilares”, estes tumores respondem por cerca de 1-2,5% de todos os tumores intracranianos e por aproximadamente 2-3% de todas as neoplasias intramedulares. Embora possam ocorrer em qualquer área do sistema nervoso central e, excecionalmente, também fora dele, o cerebelo é, de longe, o local de eleição para a sua localização. Em cerca de 70-80% dos casos, os hemangioblastomas surgem como lesões isoladas esporádicas. Os restantes casos estão associados à doença de von Hippel-Lindau, uma doença hereditária de transmissão autossómica dominante caracterizada pela predisposição à ocorrência de hemangioblastomas múltiplos e de outras lesões viscerais, as quais se desenvolvem ao longo da vida exigindo, por isso, vigilância contínua. Considerados essencialmente tumores de adultos, apresentam picos de incidência na terceira e quinta décadas de vida refletindo, respetivamente, as idades de diagnóstico dos casos associados à doença de von Hippel-Lindau e dos casos esporádicos. Apesar do seu comportamento de crescimento benigno, estes tumores podem tornar-se importantes causas de morbilidade e de mortalidade, com a sintomatologia específica a depender essencialmente da localização anatómica e do padrão de crescimento. Embora consideradas neoplasias raras, é importante considerar sempre os hemangioblastomas no diagnóstico diferencial dos casos que apresentam clínica e radiologia compatível. O diagnóstico erróneo ou tardio pode levar ao uso de terapêuticas desnecessárias e, eventualmente, prejudiciais e/ou estigmatizantes para o doente bem como ao surgimento de complicações potencialmente evitáveis se manuseados correta e atempadamente. O caso clínico apresentado neste trabalho, referente a hemangioblastoma cerebeloso, ilustra bem as dificuldades diagnósticas que muitas vezes surgem associadas a este tipo de neoplasias. O tratamento padrão consiste na excisão cirúrgica dos tumores sintomáticos quando os benefícios potenciais do procedimento superam o risco cirúrgico. Após a resseção cirúrgica, os indivíduos apresentam um prognóstico muito bom, embora possam ocorrer taxas de recorrência de até 27%, sendo necessário um acompanhamento posterior do doente, cuja duração depende de múltiplos fatores.<br>The term "hemangioblastoma", originally introduced by Cushing & Bailey in 1928, describes a benign neoplasm which is highly vascularized and has a slow growing rate, typically affecting the central nervous system. These tumors, also known as “capillary hemangioblastomas”, correspond to about 1-2,5% of all intracranial tumors and approximately 2-3% of all intramedullary neoplasms. Although they can occur in any area of the central nervous system and, exceptionally, outside it, their predominant localization is, by far, the cerebellum. At about 70-80% of the cases, hemangioblastomas appear as isolated sporadic lesions. The remaining cases are related with von Hippel-Lindau disease, an inherited autosomal dominant disorder characterized by the predisposition to the occurrence of multiple hemangioblastomas and other visceral lesions, which develop throughout life, thus being necessary to continuously monitor the patient. These tumors are considered essentially adult's tumors, having incidence peaks in the third and fifth decades of life reflecting, respectively, the diagnosis ages of cases associated with von Hippel-Lindau disease and sporadic cases. Despite its benign growth behavior, these tumors may become important causes of morbidity and mortality, with specific symptomatology critically depend on the anatomical location and growth pattern. Although these are rare neoplasms, it's important to always consider hemangioblastomas in differential diagnosis of cases with compatible clinical and radiological findings. A wrong or late diagnosis may lead to unnecessary use of therapeutic solutions which are, eventually, harmful and/or stigmatizing for the patient, as well as the emergence of potentially avoidable complications if handled correctly and timely. The clinical case presented in this work, refers to a cerebellar hemangioblastoma, illustrating the difficulties in the diagnosis of such neoplasm. The standard treatment consists in chirurgical excision of the symptomatic tumors when the potential benefices of the procedure outweigh the risks. After the surgical resection, individuals have a very good prognosis, although there can be recurrence rates up to 27%. So, a subsequent patient follow-up is necessary, the duration of which depends on several factors.

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Books on the topic "Hemangioblastome"

1

Hayat, M. A. Tumors of the Central Nervous System, Volume 5: Astrocytomas, Hemangioblastomas, and Gangliogliomas. Springer Science+Business Media B.V., 2012.

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Hatef, Jeffrey, and Russell R. Lonser. Hemangioblastoma. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190696696.003.0007.

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Hemangioblastomas are benign central nervous system tumors that are found primarily (99%) in the cerebellum, brainstem, and spinal cord. They can occur sporadically (67% of cases) or in the context of the familial neoplasia syndrome, von Hippel-Lindau disease (VHL; 33%). These lesions often remain quiescent or grow in a saltatory pattern. When these tumors cause signs or symptoms, the signs or symptoms are often associated with peritumoral cyst formation. Whether the tumor occurs sporadically or in the context of VHL, complete resection is the treatment of choice when necessary. This chapter describes the clinical, imaging, and treatment features of this neoplasm.

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Hayat, M. A. Tumors of the Central Nervous System, Volume 5: Astrocytomas, Hemangioblastomas, and Gangliogliomas. Springer, 2013.

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4

Kaur, Gurvinder, Leonel Ampie, Joseph Weiner, and Aruna Ganju. Familial CNS Tumor Syndromes: Von Hippel-Lindau Disease. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0137.

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Von Hippel-Lindau disease can be inherited or may be caused by a spontaneous mutation. Individuals diagnosed with this disease are prone to developing multiple benign tumors termed hemangioblastomas. This chapter addresses the epidemiology, clinical picture, and treatment of these tumors; specifically within those patients with this genetic disorder.

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Book chapters on the topic "Hemangioblastome"

1

Tabuchi, Kazuo, and Akira Nishimoto. "Hemangioblastoma." In Atlas of Brain Tumors. Springer Japan, 1988. http://dx.doi.org/10.1007/978-4-431-68063-5_22.

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Robinson, Joshua, and Hans E. Grossniklaus. "Hemangioblastoma." In Encyclopedia of Ophthalmology. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-35951-4_500-5.

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Eaton, Ryan G., and Russell R. Lonser. "Hemangioblastoma." In Tumors of the Spinal Canal. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-55096-7_6.

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Mocellin, Simone. "Hemangioblastoma." In Soft Tissue Tumors. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-58710-9_115.

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, et al. "Hemangioblastoma." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6215.

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Richard, Hope T., and Christine E. Fuller. "Hemangioblastoma." In Atlas of Pediatric Brain Tumors. Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-33432-5_13.

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Franchi, Alessandro. "Hemangioblastoma." In Encyclopedia of Pathology. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-030-41894-6_4821.

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Dolgushin, Mikhail, Valery Kornienko, and Igor Pronin. "Hemangioblastoma." In Brain Metastases. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-57760-9_33.

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Moitra, Ethan. "Hemangioblastoma." In Encyclopedia of Clinical Neuropsychology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-57111-9_115.

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Singh, Jasmeet Chadha, and David Zagzag. "Hemangioblastoma." In Molecular Pathology Library. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-1830-0_14.

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Conference papers on the topic "Hemangioblastome"

1

Martins, Henrique, Matheus Oliveira, Roger Brock, Eduardo Vellutini, and José Lucio. "Hemangioblastoma isolado de cauda equina." In XXXII Congresso Brasileiro de Neurocirurgia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1672546.

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Sauaia-Filho, Euler, Francisco Ferreira-Filho, Francisco Ramos Junior, Arthur Viana, and Rebecca Soares. "Hemangioblastoma supratentorial: relato de caso." In XXXII Congresso Brasileiro de Neurocirurgia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1672803.

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Cabral, Jan, Rafael Maia, Osvaldo da Costa Sobrinho, et al. "Breve série com perfil de hemangioblastomas." In XXXII Congresso Brasileiro de Neurocirurgia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1672825.

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Sun, Mianen, Federico Monzon, Lijun Zhou, et al. "Abstract 2224: Identification of molecular drivers of human hemangioblastoma." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-2224.

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de Sousa Silvino, Francisco, Manuel Monteiro, Mateus Esmeraldo, et al. "Hemangioblastoma cerebelar e doença de Von Hippel-Lindau: relato de caso." In XXXII Congresso Brasileiro de Neurocirurgia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1672807.

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Metelo, Ana Martins, Atanas Kamburov, James Kim, et al. "Abstract A13: Functional genomic analysis of central nervous system hemangioblastomas." In Abstracts: AACR Special Conference: Advances in Brain Cancer Research; May 27-30, 2015; Washington, DC. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.brain15-a13.

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Kruizinga, Roeliene C., Wilfred F. A. den Dunnen, Elisabeth G. E. de Vries, Thera P. Links, and Annemiek M. E. Walenkamp. "Abstract 93: CXCR4 expression in VHL-related and sporadic hemangioblastomas." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-93.

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Wang, Herui, Qi Zhang, Lijin Dong, et al. "Abstract 1851: A murine model of von Hippel-Lindau associated retinal hemangioblastoma." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-1851.

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Morais, Bárbara, Julia Hatagami, Mariana Teichner, Fernando Pinto, and Manoel Teixeira. "Anorexia as an early sign of fourth ventricle hemangioblastoma: case-based literature review." In XXXII Congresso Brasileiro de Neurocirurgia. Thieme Revinter Publicações Ltda, 2018. http://dx.doi.org/10.1055/s-0038-1672946.

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Takami, Hirokazu, Terry Burns, and Ian Parney. "Central Nervous System Hemangioblastoma: Difference in Clinical Picture of Sporadic Cases and von-Hippel Lindau Disease in 184 Cases." In 29th Annual Meeting North American Skull Base Society. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1679612.

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