Leptomeningeal hemangioblastoma: illustrative case

Abstract

Background: Hemangioblastoma is a slow-growing vascular tumor commonly found in the posterior fossa. It is associated with von Hippel-Lindau disease, yet most cases arise sporadically. Resection and belzutifan are highly effective in the treatment of hemangioblastoma. Rarely, leptomeningeal dissemination may occur months to years after resection.

Observations: A 56-year-old female with cerebellar hemangioblastoma resected in 2016 presented 8 years later with left hemiparesis. Updated neuroimaging revealed new leptomeningeal disease, confirmed via tissue from a right cerebellopontine angle mass. The authors conducted a review of 33 patients diagnosed with leptomeningeal disease; two-thirds were male with a median age of 48 years. Thirty-two patients presented initially with a solitary mass, and 96% of these underwent resection. The mean time from initial lesion resection to dissemination was 94 months.

Lessons: After resection, hemangioblastoma recurrence with leptomeningeal spread is a rare but dangerous possible complication. Management is complex, yet a combination of pan-CNS radiation therapy, targeted resection, and belzutifan (a small-molecule inhibitor that selectively targets and blocks the function of HIF-2α) may represent an effective treatment combination. https://thejns.org/doi/10.3171/CASE25204.

Keywords: case report; hemangioblastoma; leptomeningeal.

FIG. 1.

A: Postcontrast axial MR image demonstrating a sellar mass that was biopsied. B:Postcontrast axial MR image demonstrating a right cerebellopontine angle mass that was biopsied second. C–E: Sagittal cervical (C), thoracic (D), and lumbar (E) MR images of the spine demonstrating diffuse LMD.

FIG. 2.

A: Hematoxylin and eosin (H&E)–stained tissue section from an HB showing an intricate network of capillary-sized vessels with intervening stromal cells. The tissue was reactive with immunohistochemical stains for inhibin and S100. Tissue sections were negative for AE1/AE3. Original magnification ×200, immunostains not shown. B: H&E-stained tissue section from an intraoperative frozen section of an HB showing stromal cells with round cytoplasmic vacuoles dispersed among fine, capillary-like vasculature. Occasional stromal cell nuclei are enlarged and hyperchromatic. Original magnification ×600.