Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations

Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth v...

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Autores: Chinchilla Tabora, Luis Miguel, Rodríguez-Parets, J.O., Martín, Á.O.-R.L.R., Escudero, J.C.P., Martín, L.M.N., García, B.C., Palacios, A.N., Morais, I.G., Sayagués, J.M., de la Cruz, M.D.L.
Tipo de recurso: artículo
Fecha de publicación:2023
País:España
Institución:Servizo Galego de Saúde (SERGAS)
Repositorio:RUNA. Repositorio da Consellería de Sanidade e Sergas
OAI Identifier:oai:runa.sergas.gal:20.500.11940/21194
Acceso en línea:https://portalcientifico.sergas.gal//documentos/656208b0f2e9e72161e16ef7
http://hdl.handle.net/20.500.11940/21194
Access Level:acceso abierto
Palabra clave:AS Lugo
CHULA
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spelling Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR AlterationsChinchilla Tabora, Luis MiguelRodríguez-Parets, J.O.Martín, Á.O.-R.L.R.Escudero, J.C.P.Martín, L.M.N.García, B.C.Palacios, A.N.Morais, I.G.Sayagués, J.M.de la Cruz, M.D.L.AS LugoCHULAHemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.2023info:eu-repo/semantics/articlehttps://portalcientifico.sergas.gal//documentos/656208b0f2e9e72161e16ef7http://hdl.handle.net/20.500.11940/21194reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/211942026-06-12T08:40:47Z
dc.title.none.fl_str_mv Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
title Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
spellingShingle Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
Chinchilla Tabora, Luis Miguel
AS Lugo
CHULA
title_short Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
title_full Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
title_fullStr Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
title_full_unstemmed Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
title_sort Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations
dc.creator.none.fl_str_mv Chinchilla Tabora, Luis Miguel
Rodríguez-Parets, J.O.
Martín, Á.O.-R.L.R.
Escudero, J.C.P.
Martín, L.M.N.
García, B.C.
Palacios, A.N.
Morais, I.G.
Sayagués, J.M.
de la Cruz, M.D.L.
author Chinchilla Tabora, Luis Miguel
author_facet Chinchilla Tabora, Luis Miguel
Rodríguez-Parets, J.O.
Martín, Á.O.-R.L.R.
Escudero, J.C.P.
Martín, L.M.N.
García, B.C.
Palacios, A.N.
Morais, I.G.
Sayagués, J.M.
de la Cruz, M.D.L.
author_role author
author2 Rodríguez-Parets, J.O.
Martín, Á.O.-R.L.R.
Escudero, J.C.P.
Martín, L.M.N.
García, B.C.
Palacios, A.N.
Morais, I.G.
Sayagués, J.M.
de la Cruz, M.D.L.
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv AS Lugo
CHULA
topic AS Lugo
CHULA
description Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.
publishDate 2023
dc.date.none.fl_str_mv 2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://portalcientifico.sergas.gal//documentos/656208b0f2e9e72161e16ef7
http://hdl.handle.net/20.500.11940/21194
url https://portalcientifico.sergas.gal//documentos/656208b0f2e9e72161e16ef7
http://hdl.handle.net/20.500.11940/21194
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas
instname:Servizo Galego de Saúde (SERGAS)
instname_str Servizo Galego de Saúde (SERGAS)
reponame_str RUNA. Repositorio da Consellería de Sanidade e Sergas
collection RUNA. Repositorio da Consellería de Sanidade e Sergas
repository.name.fl_str_mv
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