Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots

Case report

Ravi Raghavan, Jon Krumerman, Elisabeth J. Rushing, Charles L. White, David P. Chason, Mark L. Watson, Caetano Coimbra

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

OBJECTIVE AND IMPORTANCE: Spinal nerve root hemangioblastomas are rare and are reported mainly in patients with von Hippel-Lindau (VHL) syndrome. The pathogenesis of so-called nonfamilial lesions is virtually unknown. We discuss, mainly from a molecular perspective, a unique patient with sporadic, recurrent hemangioblastomas restricted to spinal nerve roots. CLINICAL PRESENTATION: A 53-year-old man who had had a surgically corrected lumbosacral meningomyelocele presented on at least three occasions during a 17-year period with multifocal capillary hemangioblastomas involving spinal nerve roots. On each occasion, tumors appeared on a different nerve root, with the majority located in the midcervical segments. The patient had no clinical features or family history of VHL syndrome. TECHNIQUE: To obtain a clearer understanding of the pathogenesis of this unusual case and its relationship to VHL syndrome, molecular analysis of the VHL gene was performed by use of complete sequence analysis and loss of heterozygosity studies on deoxyribonucleic acid derived from the patient's blood leukocytes and three separately resected hemangioblastomas. CONCLUSION: Germ-line molecular analysis performed on all three exons in the VHL gene coding region did not indicate that any mutations were present. Loss of heterozygosity analysis of deoxyribonucleic acid from the three hemangioblastoma resections showed normal heterozygosity in the 3p25-26 region. Complete VHL gene sequence analysis did not demonstrate a somatic mutation in the coding region of the VHL gene in any of the three tumors, thereby supporting the loss of heterozygosity data that a molecular event directly involving the VHL gene may not be the causative factor in their tumorigenesis.

Original languageEnglish (US)
Pages (from-to)1443-1448
Number of pages6
JournalNeurosurgery
Volume47
Issue number6
StatePublished - 2000

Fingerprint

Hemangioblastoma
Spinal Nerve Roots
von Hippel-Lindau Disease
Loss of Heterozygosity
Genes
Sequence Analysis
Meningomyelocele
Mutation
DNA
Germ Cells
Exons
Neoplasms
Carcinogenesis
Leukocytes

Keywords

  • Hemangioblastoma
  • Loss of heterozygosity
  • Mutations
  • Spinal nerve root
  • VHL gene
  • Von Hippel-Lindau syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery

Cite this

Raghavan, R., Krumerman, J., Rushing, E. J., White, C. L., Chason, D. P., Watson, M. L., & Coimbra, C. (2000). Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: Case report. Neurosurgery, 47(6), 1443-1448.

Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots : Case report. / Raghavan, Ravi; Krumerman, Jon; Rushing, Elisabeth J.; White, Charles L.; Chason, David P.; Watson, Mark L.; Coimbra, Caetano.

In: Neurosurgery, Vol. 47, No. 6, 2000, p. 1443-1448.

Research output: Contribution to journalArticle

Raghavan, R, Krumerman, J, Rushing, EJ, White, CL, Chason, DP, Watson, ML & Coimbra, C 2000, 'Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: Case report', Neurosurgery, vol. 47, no. 6, pp. 1443-1448.
Raghavan R, Krumerman J, Rushing EJ, White CL, Chason DP, Watson ML et al. Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: Case report. Neurosurgery. 2000;47(6):1443-1448.
Raghavan, Ravi ; Krumerman, Jon ; Rushing, Elisabeth J. ; White, Charles L. ; Chason, David P. ; Watson, Mark L. ; Coimbra, Caetano. / Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots : Case report. In: Neurosurgery. 2000 ; Vol. 47, No. 6. pp. 1443-1448.
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