Introduction: The most common etiologies of intradural spinal tumors are meningioma, neurofibroma, ependymoma, and astrocytoma. Rarely, hemangioblastomas can occur intradurally, but are difficult to diagnose due to their low incidence and similar radiological appearance to more common spinal tumors. Hemangioblastomas are most often found in the cerebellum and spinal cord, though if they do occur in the spine, they are typically located in the cervical or thoracic regions, and are almost always intramedullary. We report the case of a rare, intradural, extramedullary hemangioblastoma of the lumbar spine. Difficulties with diagnosis of this rare pathology, resection, and patient counseling regarding future risk are discussed.
Methods: We report the case of one 63-year-old caucasian female with a well-circumscribed intradural mass at the level of the L5 body, treated via an L5 laminectomy and intradural tumor resection. We also performed an updated literature review using PubMed.
Results: Intraoperative frozen sections were inconclusive, but initially suggestive of schwannoma versus neurofibroma. Nearly two months after resection, the final diagnosis of Grade I Hemangioblastoma was made based on microscopic morphology and immunohistochemical staining. The sections showed a highly vascularized, epithelioid and spindle-cell neoplasm with interstitial foamy cells. The tumor was inhibin positive, with positive staining for S100 and CD99. CD31, CD34, and reticulin stains showed vascularized stroma. Genetic sequencing showed a Phe119Leu mutation in exon 2 of the VHL gene, suggestive of Von Hippel Lindau disease.
Conclusion : Intradural, extramedullary hemangioblastomas are rarely reported in the literature, particularly within the lumbar spine. Spinal cord hemangioblastomas are associated with VHL, an autosomal dominant condition that predisposes individuals to hemangioblastomas and multiple types of malignant tumors across organ systems. Therefore, the patient in this case is at increased risk of recurrence of hemangioblastoma despite successful resection, and is additionally at risk for developing a variety of aggressive cancers.
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