Recurrent (nonfamilial) hemangioblastomas involving spinal nerve roots: Case report

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 disc uss, mainly from a molecular perspective, a unique patient with sporadic, r ecurrent 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 spin al 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 un usual case and its relationship to VHL syndrome, molecular analysis of the VHL gene was performed by use of complete sequence analysis and loss of het erozygosity studies on deoxyribonudeic acid derived from the patient's bloo d leukocytes and three separately resected hemangioblastomas. CONCLUSION: Germ-line molecular analysis performed on all three exons in th e VHL gene coding region did not indicate that any mutations were present. Loss of heterozygosity analysis of deoxyribonucleic acid from the three hem angioblastoma resections showed normal heterozygosity in the 3p25-26 region . Complete VHL gene sequence analysis did not demonstrate a somatic mutatio n 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 tumorigenes is.