Hemangioblastoma of the Cerebellum: Advanced Imaging, Diagnosis, and Treatment Strategies

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Keywords: Hemangioblastoma, Cerebellar Tumor, Von Hippel–Lindau Disease, MRI Imaging, Neurosurgery, CNS Tumors, Cerebellar Neoplasm

Introduction

Hemangioblastomas are rare, highly vascular tumors of the central nervous system (CNS), most commonly arising in the cerebellum of adult patients. Although benign (WHO grade I), their clinical significance stems from their mass effect, associated cyst formation, and potential relationship with Von Hippel–Lindau (VHL) disease. The following column explores an illustrative case study of a 56-year-old male with intermittent headaches and balance disturbances, ultimately diagnosed with cerebellar hemangioblastoma. By analyzing the clinical course, imaging findings, surgical management, and pathological features, we highlight state-of-the-art diagnostic strategies, differential considerations, and therapeutic approaches for this rare but important entity.

Case Presentation

A 56-year-old male with a history of hypertension, hyperlipidemia, and prior COVID-19 infection presented with six months of intermittent occipital headaches, nausea, dizziness, and progressive gait imbalance. His headaches worsened when lying prone, bending forward, or performing exertional maneuvers. Over-the-counter ibuprofen provided partial relief.

On neurological examination, he was alert and oriented, but demonstrated dysmetria on the left finger-to-nose test. No other focal deficits were identified.

Imaging Findings

MRI Without Contrast

Initial brain MRI demonstrated a left cerebellar hemispheric lesion:

Figure 1. Sagittal T1-weighted MRI – a cerebellar lesion with mixed intensity.

Figure 2. Axial T1-weighted MRI – hypointense lesion with mass effect.

Figure 3. Coronal T2-weighted MRI – hyperintense signal with perilesional edema.

Figure 4. Axial FLAIR MRI – periventricular hyperintensity consistent with hydrocephalus.

Diffusion and Susceptibility Imaging

Figure 5. DWI – no diffusion restriction.

Figure 6. ADC map – confirms absence of restricted diffusion.

Figure 7. GRE sequence – demonstrates peripheral blood degradation products (hemosiderin).


Figure 8. Axial T2-weighted post-contrast (sequential 1 mm slices) – shows intense enhancement, highlighting the vascular nature of the mass.

Pathology

Following left cerebellar craniotomy and tumor resection, gross pathology revealed a pink-tan nodular lesion (1.5 × 1.3 × 0.8 cm).

Microscopy:

  • Cellular tumor with lipidized cytoplasm, vacuolated stromal cells, and thin-walled capillary networks.

  • Immunohistochemistry: Positive for inhibin, negative for EMA, GFAP, Pax8, CAIX, and CD10.

  • Genetic testing: VHL gene negative.

Diagnosis: Cerebellar Hemangioblastoma (WHO Grade I)

Discussion

Pathogenesis and Histology

Hemangioblastomas are vascular-rich tumors composed of stromal cells and capillaries. While two-thirds are sporadic, one-third occur in association with VHL disease, a genetic syndrome predisposing to retinal angiomas, renal cell carcinoma, and pancreatic cysts.

Histologically, hemangioblastomas are classified into four subtypes:

  1. Simple cyst without mural nodule (5%)

  2. Cyst with mural nodule (60%)

  3. Solid tumor (26%)

  4. Solid tumor with small internal cysts (9%)

The cyst-with-nodule variant is the most frequent, typically showing avid contrast enhancement of the mural nodule.

Epidemiology

  • Represents 1–2.5% of all intracranial tumors.

  • Accounts for 7–12% of posterior fossa tumors.

  • The most common primary cerebellar neoplasm in adults.

  • Peak incidence: 30s–50s, with male predominance.

  • Sporadic in 70–80%, VHL-associated in 20–30%.

Clinical Features

Symptoms are largely attributable to mass effect and hydrocephalus:

  • Headache (70%)

  • Cerebellar dysfunction (50–60%)

  • Nausea/vomiting (50%)

  • Dizziness and imbalance

  • Rarely, polycythemia due to ectopic erythropoietin production (5–40%).

Imaging Characteristics

  • CT: Cystic mass with enhancing mural nodule.

  • MRI:

    • T1: Hypointense nodule

    • T2: Hyperintense nodule, cyst with CSF-like intensity

    • GRE: Susceptibility from microhemorrhage

    • Post-contrast: Intense mural nodule enhancement

  • DWI: Typically, no restriction (distinguishes from abscess/metastasis).

  • Perfusion MRI: High CBV due to vascularity.

Differential Diagnosis

  • Metastasis (e.g., renal cell carcinoma)

  • Pilocytic astrocytoma (especially in young patients)

  • AVM or aneurysm

  • Abscess (restricted diffusion)

  • Ependymoma or medulloblastoma

Treatment

  1. Surgical Resection – Curative for solitary, symptomatic lesions.

    • Resection should target the mural nodule, not just the cyst.

    • In enhancing cyst walls, both the nodule and wall should be excised.

  2. Preoperative Embolization – Sometimes used to reduce intraoperative bleeding.

  3. Stereotactic Radiosurgery – Beneficial in multifocal or recurrent lesions, especially in VHL patients.

  4. Observation – For asymptomatic lesions, particularly in elderly patients or incidental findings.

Prognosis

  • Recurrence is more frequent in VHL patients (17–75%) than in sporadic cases (5–17%).

  • Late recurrence up to 22 years post-resection has been reported.

  • Sporadic hemangioblastomas carry a favorable prognosis, while VHL-associated cases often require lifelong surveillance.

Quiz

1. Cerebellar tumors are the most common pediatric CNS tumors but are rare in adults.

(1) True

(2) False

2. What best describes the imaging findings?

  1. Hypovascular mass with poor enhancement and restricted diffusion

  2. Hypervascular mass with restricted diffusion and hemorrhagic products

  3. Hypervascular mass without restricted diffusion, with peripheral hemorrhagic products

  4. Rapidly enhancing hypovascular lesion with restricted diffusion


3. What secondary MRI findings are present?

  1. Enlargement of the lateral ventricles

  2. Enlargement of the third ventricle

  3. Mass effect on the fourth ventricle

  4. All of the above


4. What is the most common primary posterior fossa neoplasm in adults?

  1. Hemangioblastoma

  2. Glioblastoma

  3. Pilocytic astrocytoma

  4. Oligodendroglioma

  5. Ependymoma


5. Following diagnosis of a CNS hemangioblastoma, what is the next step?

  1. Whole-brain and spinal imaging

  2. Abdominal imaging

  3. Retinal fundoscopy

  4. All of the above


Answer & Explanation

1. Answer: (1) True. Most pediatric CNS tumors are cerebellar, but in adults, they are relatively rare.

2. Answer: (3) Correct. The lesion is hypervascular, shows no diffusion restriction, and demonstrates peripheral blood products on GRE.

3. Answer: (4) All of the above. Imaging confirmed ventriculomegaly, periventricular edema, and mild fourth ventricular compression.

4. Answer: (4) All of the above. Imaging confirmed ventriculomegaly, periventricular edema, and mild fourth ventricular compression.

5. Answer: (4) All of the above. These are essential to rule out VHL disease.

Conclusion

Cerebellar hemangioblastomas, though rare, represent a critical diagnostic and therapeutic challenge due to their vascularity, mass effect, and association with VHL. MRI remains the gold standard for diagnosis, while surgical resection offers excellent outcomes in symptomatic cases. Long-term follow-up is essential, particularly for patients with familial VHL-associated disease.

This case underscores the importance of integrating clinical, radiological, pathological, and genetic data in managing CNS hemangioblastomas.

References

[1] V. Ho, J. Smirniotopoulos, F. Murphy, and E. Rushing, “Radiologic-pathologic correlation: Hemangioblastoma,” AJNR Am J Neuroradiol, vol. 13, no. 5, pp. 1343–1352, 1992.

[2] R. Ganguly, D. Dornbos, J.L. Finlay, and R.R. Lonser, “Hemangioblastoma and von Hippel-Lindau disease,” in Oncology of CNS Tumors, 3rd ed., J.C. Tonn, D. Reardon, J. Rutka, M. Westphal, Eds. Cham: Springer, 2019.

[3] M. Fukuda et al., “Clinical factors predicting outcomes after surgical resection for sporadic cerebellar hemangioblastomas,” World Neurosurg., vol. 82, no. 5, pp. 815–821, 2014.

[4] E. Matsusue, C. Inoue, S. Tabuchi, et al., “Advanced magnetic resonance imaging findings of cerebellar hemangioblastomas: A report of three cases and a literature review,” Acta Radiol Open, vol. 11, no. 2, pp. 20584601221077074, 2022.

[5] A. Lopes Dos Santos, S. Trevas, M.L. Rosado, “A challenge in diagnosis of cerebellar hemangioblastoma,” Cureus, vol. 14, no. 1, e21713, 2022.

[6] Q. Wang, S. Zhang, J. Cheng, W. Liu, and X. Hui, “Radiologic features and surgical strategy of hemangioblastomas with enhanced cyst wall,” World Neurosurg., vol. 108, pp. 143–150, 2017.

[7] “Cerebellar hemangioblastoma presenting as secondary erythrocytosis and aspiration pneumonia,” West J Med, vol. 164, no. 2, pp. 169–171, 1996.

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