Advanced search
Publication Cover
International Medical Case Reports Journal Volume 16, 2023 - Issue
Submit an article Journal homepage
149
Views
0
CrossRef citations to date
0
Altmetric
Case reports

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

Luis Miguel Chinchilla-Tábora1 Department of Pathology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-7435-3509View further author information
ORCID Icon,
Javier Ortiz Rodríguez-Parets1 Department of Pathology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainView further author information
,
Álvaro Otero-Rodríguez2 Department of Neurosurgery, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainORCID Iconhttps://orcid.org/0000-0001-9421-7830View further author information
ORCID Icon,
Laura Ruiz Martín2 Department of Neurosurgery, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainView further author information
,
Juan Carlos Paniagua Escudero3 Department of Radiology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainView further author information
,
Luis Miguel Navarro Martín4 Department of Clinical Oncology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainView further author information
,
Belén Cigarral García4 Department of Clinical Oncology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainORCID Iconhttps://orcid.org/0000-0002-5366-704XView further author information
ORCID Icon,
Adelaida Nieto Palacios5 Department of Radiation Oncology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainView further author information
,
Idalia González Morais1 Department of Pathology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainORCID Iconhttps://orcid.org/0000-0002-4372-4725View further author information
ORCID Icon,
José María Sayagués1 Department of Pathology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainORCID Iconhttps://orcid.org/0000-0003-0582-3500View further author information
ORCID Icon &
María Dolores Ludeña de la Cruz1 Department of Pathology, University Hospital of Salamanca and Institute for Biomedical Research of Salamanca, Salamanca, SpainORCID Iconhttps://orcid.org/0000-0003-3991-5956View further author information
ORCID Icon show all
Pages 709-714 | Received 23 Jul 2023, Accepted 21 Oct 2023, Published online: 03 Nov 2023

References

  • Hussein MR. Central nervous system capillary haemangioblastoma: the pathologist’s viewpoint. Int J Exp Pathol. 2007;88(5):311–324. doi:10.1111/j.1365-2613.2007.00535.x
  • Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg. 2003;98(1):82–94. doi:10.3171/jns.2003.98.1.0082
  • Tihan T, Fanburg-Smith JC, Oliver Vortmeyer A, Zagzag D. Haemangioblastoma. In: Central Nervous Tumours Who Classification of Tumours. 5th ed. Lyon, France: International Agency for Research on Cancer (IARC); 2021.
  • Shankar GM, Taylor-Weiner A, Lelic N, et al. Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. acta neuropathol commun. 2014;2(1):167. doi:10.1186/s40478-014-0167-x
  • Nguyen HS, Doan NB, Gelsomino M, et al. Intracranial hemangioblastoma - A SEER-based analysis 2004–2013. Oncotarget. 2018;9(46):28009–28015. doi:10.18632/oncotarget.25534
  • Muscarella LA, la Torre A, Faienza A, et al. Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system. J Neuropathol Exp Neurol. 2014;73(1):50–58. doi:10.1097/NEN.0000000000000024
  • Minervini G, Quaglia F, Tabaro F, Tosatto SCE, Schlessinger A. Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors. PLoS Comput Biol. 2019;15(4):e1006478. doi:10.1371/journal.pcbi.1006478
  • North PE, Mizeracki A, Mihm MC, Mrak RE. GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma. Clin Neuropathol. 2000;19(3):131–137.
  • Liu Z, Li L, Yi Z, et al. Overexpression of EGFR and TGFα in von Hippel-Lindau related central nervous system hemangioblastomas. Front Oncol. 2020;10:703. doi:10.3389/fonc.2020.00703
  • Böhling T, Hatva E, Kujala M, Claesson-Welsh L, Alitalo K, Haltia M. Expression of growth factors and growth factor receptors in capillary hemangioblastoma. J Neuropathol Exp Neurol. 1996;55(5):522–527. doi:10.1097/00005072-199605000-00004
  • Mehrian-Shai R, Yalon M, Moshe I, et al. Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. BMC Genomics. 2016;17(1):56. doi:10.1186/s12864-016-2370-6
  • Reifenberger G, Reifenberger J, Bilzer T, Wechsler W, Collins VP Coexpression of transforming growth factor-alpha and épidermal growth factor receptor in capillary hemangioblastomas of the central nervous system. Am J Pathol. 1995;147(2):245-250.
  • Chen GJ, Karajannis MA, Newcomb EW, Zagzag D Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. J Neurooncol. 2010;99(2):195-200. doi:10.1007/s11060-010-0125-9
  • Falconieri A, Minervini G, Bortolotto R, et al. The E3 ubiquitin-protein ligase MDM2 is a novel interactor of the von Hippel-Lindau tumor suppressor. Sci Rep. 2020;10(1):15850. doi:10.1038/s41598-020-72683-3
  • Ordookhanian C, Kaloostian PE, Ghostine SS, Spiess PE, Etame AB. Management strategies and outcomes for VHL-related craniospinal hemangioblastomas. J Kidney Cancer VHL. 2017;4(3):37–44. doi:10.15586/jkcvhl.2017.90
  • Huang Y, Chan L, Bai HX, et al. Assessment of care pattern and outcome in hemangioblastoma. Sci Rep. 2018;8(1):11144. doi:10.1038/s41598-018-29047-9

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.