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Erschienen in: Acta Neurochirurgica 2/2019

17.01.2019 | Case Report - Brain Tumors

Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease—a case report and literature review

Erschienen in: Acta Neurochirurgica | Ausgabe 2/2019

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Abstract

Background

Hemangioblastomas (HB) are benign tumors of the central nervous system (CNS) that can appear sporadic or as part of von Hippel-Lindau (VHL) disease. It is often curable with surgical resection, but upon relapse, the disease exhibits a treatment-refractory course.

Case report

A patient treated for sporadic cerebellar HB relapsed 12 years post-surgery. She developed disseminated disease throughout the CNS, including leptomeningeal manifestations. Repeat surgery and craniospinal radiation therapy were unsuccessful.

Conclusion

This case is in line with previous publications on disseminated non-VHL HB. Available treatment options are inefficient, emphasizing the need for improved understanding of HB biology to identify therapeutic targets.
Literatur
3.
Zurück zum Zitat Böhling T, Plate K, Haltia M, Litalo K, Neumann H (2000) von Hippel-Lindau disease and capillary haemangioblastoma in World Health Organization Classification of Tumors Pathology, genetics of tumours of the nervous system. 223–6 edn., Lyon Böhling T, Plate K, Haltia M, Litalo K, Neumann H (2000) von Hippel-Lindau disease and capillary haemangioblastoma in World Health Organization Classification of Tumors Pathology, genetics of tumours of the nervous system. 223–6 edn., Lyon
4.
Zurück zum Zitat Bruner J, Tien R, McLendon R (1998) Tumors of vascular origin. In Russel and Rubinstein’s pathology of tumors of the nervous system. 6th edn., London Bruner J, Tien R, McLendon R (1998) Tumors of vascular origin. In Russel and Rubinstein’s pathology of tumors of the nervous system. 6th edn., London
7.
Zurück zum Zitat de la Monte SM, Horowitz SA (1989) Hemangioblastomas: clinical and histopathological factors correlated with recurrence. Neurosurgery 25:695–698CrossRefPubMed de la Monte SM, Horowitz SA (1989) Hemangioblastomas: clinical and histopathological factors correlated with recurrence. Neurosurgery 25:695–698CrossRefPubMed
8.
Zurück zum Zitat Gijtenbeek JM, Jacobs B, Sprenger SH, Eleveld MJ, van Kessel AG, Kros JM, Sciot R, van Calenbergh F, Wesseling P, Jeuken JW (2002) Analysis of von hippel-Lindau mutations with comparative genomic hybridization in sporadic and hereditary hemangioblastomas: possible genetic heterogeneity. J Neurosurg 97:977–982. https://doi.org/10.3171/jns.2002.97.4.0977 CrossRefPubMed Gijtenbeek JM, Jacobs B, Sprenger SH, Eleveld MJ, van Kessel AG, Kros JM, Sciot R, van Calenbergh F, Wesseling P, Jeuken JW (2002) Analysis of von hippel-Lindau mutations with comparative genomic hybridization in sporadic and hereditary hemangioblastomas: possible genetic heterogeneity. J Neurosurg 97:977–982. https://​doi.​org/​10.​3171/​jns.​2002.​97.​4.​0977 CrossRefPubMed
9.
Zurück zum Zitat Girmens JF, Erginay A, Massin P, Scigalla P, Gaudric A, Richard S (2003) Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. Am J Ophthalmol 136:194–196CrossRefPubMed Girmens JF, Erginay A, Massin P, Scigalla P, Gaudric A, Richard S (2003) Treatment of von Hippel-Lindau retinal hemangioblastoma by the vascular endothelial growth factor receptor inhibitor SU5416 is more effective for associated macular edema than for hemangioblastomas. Am J Ophthalmol 136:194–196CrossRefPubMed
10.
Zurück zum Zitat Hande AM, Nagpal RD (1996) Cerebellar haemangioblastoma with extensive dissemination. Br J Neurosurg 10:507–511CrossRefPubMed Hande AM, Nagpal RD (1996) Cerebellar haemangioblastoma with extensive dissemination. Br J Neurosurg 10:507–511CrossRefPubMed
11.
Zurück zum Zitat Hasselblatt M, Jeibmann A, Gerss J, Behrens C, Rama B, Wassmann H, Paulus W (2005) Cellular and reticular variants of haemangioblastoma revisited: a clinicopathologic study of 88 cases. Neuropathol Appl Neurobiol 31:618–622CrossRefPubMed Hasselblatt M, Jeibmann A, Gerss J, Behrens C, Rama B, Wassmann H, Paulus W (2005) Cellular and reticular variants of haemangioblastoma revisited: a clinicopathologic study of 88 cases. Neuropathol Appl Neurobiol 31:618–622CrossRefPubMed
15.
Zurück zum Zitat Lee JY, Dong SM, Park WS, Yoo NJ, Kim CS, Jang JJ, Chi JG, Zbar B, Lubensky IA, Linehan WM, Vortmeyer AO, Zhuang Z (1998) Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas. Cancer Res 58:504–508PubMed Lee JY, Dong SM, Park WS, Yoo NJ, Kim CS, Jang JJ, Chi JG, Zbar B, Lubensky IA, Linehan WM, Vortmeyer AO, Zhuang Z (1998) Loss of heterozygosity and somatic mutations of the VHL tumor suppressor gene in sporadic cerebellar hemangioblastomas. Cancer Res 58:504–508PubMed
17.
Zurück zum Zitat Mandahl N (1992) Human cytogenetics - a practical approach: Vol. II. Malignancy and acquired abnormalities, vol II. IRL Press, Oxford Mandahl N (1992) Human cytogenetics - a practical approach: Vol. II. Malignancy and acquired abnormalities, vol II. IRL Press, Oxford
18.
Zurück zum Zitat Mohan J, Brownell B, Oppenheimer DR (1976) Malignant spread of haemangioblastoma: report on two cases. J Neurol Neurosurg Psychiatry 39:515–525CrossRefPubMedPubMedCentral Mohan J, Brownell B, Oppenheimer DR (1976) Malignant spread of haemangioblastoma: report on two cases. J Neurol Neurosurg Psychiatry 39:515–525CrossRefPubMedPubMedCentral
19.
20.
Zurück zum Zitat Niemela M, Maenpaa H, Salven P, Summanen P, Poussa K, Laatikainen L, Jaaskelainen J, Joensuu H (2001) Interferon alpha-2a therapy in 18 hemangioblastomas. Clin Cancer Res 7:510–516PubMed Niemela M, Maenpaa H, Salven P, Summanen P, Poussa K, Laatikainen L, Jaaskelainen J, Joensuu H (2001) Interferon alpha-2a therapy in 18 hemangioblastomas. Clin Cancer Res 7:510–516PubMed
22.
Zurück zum Zitat Raghavan R, Krumerman J, Rushing EJ, White CL III, Chason DP, Watson ML, Coimbra C (2000) Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: case report. Neurosurgery 47:1443–1448CrossRefPubMed Raghavan R, Krumerman J, Rushing EJ, White CL III, Chason DP, Watson ML, Coimbra C (2000) Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: case report. Neurosurgery 47:1443–1448CrossRefPubMed
23.
Zurück zum Zitat Ramachandran R, Lee HS, Matthews B, Shatzel A, Tihan T (2008) Intradural extramedullary leptomeningeal hemangioblastomatosis and paraneoplastic limbic encephalitis diagnosed at autopsy: an unlikely pair. Arch Pathol Lab Med 132:104–108. https://doi.org/10.1043/1543-2165(2008)132[104:IELHAP]2.0.CO;2 Ramachandran R, Lee HS, Matthews B, Shatzel A, Tihan T (2008) Intradural extramedullary leptomeningeal hemangioblastomatosis and paraneoplastic limbic encephalitis diagnosed at autopsy: an unlikely pair. Arch Pathol Lab Med 132:104–108. https://​doi.​org/​10.​1043/​1543-2165(2008)132[104:IELHAP]2.0.CO;2
24.
Zurück zum Zitat Russell DS, Rubinstein LJ (1989) Pathology of tumours of the nervous system. 5th edn., London Russell DS, Rubinstein LJ (1989) Pathology of tumours of the nervous system. 5th edn., London
25.
Zurück zum Zitat Seystahl K, Weller M, Bozinov O, Reimann R, Rushing E (2014) Neuropathological characteristics of progression after prolonged response to bevacizumab in multifocal hemangioblastoma. Oncol Res Treat 37:209–212CrossRefPubMed Seystahl K, Weller M, Bozinov O, Reimann R, Rushing E (2014) Neuropathological characteristics of progression after prolonged response to bevacizumab in multifocal hemangioblastoma. Oncol Res Treat 37:209–212CrossRefPubMed
26.
Zurück zum Zitat International Standing Committee on Human Cytogenetic Nomenclature, Shaffer LG, Slovak ML, Campbell LJ (2009) ISCN 2009: an international system for human cytogenetic nomenclature. Karger, Basel; Unionville, CT International Standing Committee on Human Cytogenetic Nomenclature, Shaffer LG, Slovak ML, Campbell LJ (2009) ISCN 2009: an international system for human cytogenetic nomenclature. Karger, Basel; Unionville, CT
27.
Zurück zum Zitat Shankar GM, Taylor-Weiner A, Lelic N, Jones RT, Kim JC, Francis JM, Abedalthagafi M, Borges LF, Coumans JV, Curry WT, Nahed BV, Shin JH, Paek SH, Park SH, Stewart C, Lawrence MS, Cibulskis K, Thorner AR, Van Hummelen P, Stemmer-Rachamimov AO, Batchelor TT, Carter SL, Hoang MP, Santagata S, Louis DN, Barker FG, Meyerson M, Getz G, Brastianos PK, Cahill DP (2014) Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. Acta neuropathologica communications 2:167. https://doi.org/10.1186/s40478-014-0167-x CrossRefPubMed Shankar GM, Taylor-Weiner A, Lelic N, Jones RT, Kim JC, Francis JM, Abedalthagafi M, Borges LF, Coumans JV, Curry WT, Nahed BV, Shin JH, Paek SH, Park SH, Stewart C, Lawrence MS, Cibulskis K, Thorner AR, Van Hummelen P, Stemmer-Rachamimov AO, Batchelor TT, Carter SL, Hoang MP, Santagata S, Louis DN, Barker FG, Meyerson M, Getz G, Brastianos PK, Cahill DP (2014) Sporadic hemangioblastomas are characterized by cryptic VHL inactivation. Acta neuropathologica communications 2:167. https://​doi.​org/​10.​1186/​s40478-014-0167-x CrossRefPubMed
28.
Zurück zum Zitat Taieb D, Barlier A, Yang C, Pertuit M, Tchoghandjian A, Rochette C, Zattara-Canoni H, Figarella-Branger D, Zhuang Z, Pacak K, Metellus P (2016) Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. J Neuro-Oncol 126:473–481. https://doi.org/10.1007/s11060-015-1983-y CrossRef Taieb D, Barlier A, Yang C, Pertuit M, Tchoghandjian A, Rochette C, Zattara-Canoni H, Figarella-Branger D, Zhuang Z, Pacak K, Metellus P (2016) Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. J Neuro-Oncol 126:473–481. https://​doi.​org/​10.​1007/​s11060-015-1983-y CrossRef
29.
30.
Zurück zum Zitat Tohyama T, Kubo O, Kusano R, Miura N, Himuro H (1990) A case of hemangioblastoma with subarachnoid dissemination. No Shinkei Geka 18:83–88PubMed Tohyama T, Kubo O, Kusano R, Miura N, Himuro H (1990) A case of hemangioblastoma with subarachnoid dissemination. No Shinkei Geka 18:83–88PubMed
Metadaten
Titel
Disseminated central nervous system hemangioblastoma in a patient with no clinical or genetic evidence of von Hippel-Lindau disease—a case report and literature review
Publikationsdatum
17.01.2019
Erschienen in
Acta Neurochirurgica / Ausgabe 2/2019
Print ISSN: 0001-6268
Elektronische ISSN: 0942-0940
DOI
https://doi.org/10.1007/s00701-019-03800-z

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