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Case Study: July 2010
A 30 year old male presents with a phthisical left eye and undergoes enucleation. He has some lesions in his right eye that are under ophthalmic surveillance.
Figure 1 is a low power of the enucleation.
Figures 2, 3 and 4 are higher power shots of the arrowed lesion in Figure 1.
Questions
1. What does figure 2 and 3 show?
2. What does figure 4 show (arrow)?
3. What is the likeliest diagnosis?
4. Which immuno-stain will highlight the cells in Fig.4
5. What other history may you ask for form the clinicians?
- A vascular neoplasm
- Foamy stromal cells between the vascular element.
- The combination of endothelial and foamy stromal cells makes this a retinal haemangioblastoma. The stromal cells are the neoplastic element.
- GFAP, CD56, S100 and anti-VEGF.
- This patient has Von Hippel Lindau disease (hence the lesions in the other eye).
The systemic manifestations are:
RETINA: haemangioblastoma
Peripheral nerves: haemangioblastoma
Kidney: cysts and renal cell carcinoma
Pancreas: cysts, microcystic adenoma and neuroendocrine tumours
Adenal gland/paraganglia: phaeochromocytoma / paraganglioma
Endolymphatic sac/duct: endolymphatic sac tumour
Epididymis: epididymal cystadenoma
Adnexae: cystadenoma
Other organs: cysts
References
http://emedicine.medscape.com/article/1219430-overview
WHO Classification of tumours of the central nervous system- IARC Press 3rd edition 2007, pages 215-217
Genotype-Phenotype Correlation in Ocular von Hippel-Lindau (VHL) Disease: The Effect of Missense Mutation Position on Ocular VHL Phenotype. Mettu P, Agron E, Samtani S, Chew EY, Wong WT. Invest Ophthalmol Vis Sci. 2010
