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. 2004:102:139-47; discussion 147-8.

Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex

Jerry A Shields  1 , Ralph C Eagle Jr, Carol L Shields, Brian P Marr
Affiliations

Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex

Jerry A Shields et al. Trans Am Ophthalmol Soc. 2004.

Abstract

Objective: To report the clinical and histopathologic findings of retinal astrocytic tumors that showed progressive growth in four patients with tuberous sclerosis complex (TSC).

Methods: Four young children each developed an enlarging retinal neoplasm that eventually necessitated enucleation of the affected eye. The systemic findings, clinical course, and histopathologic findings were reviewed.

Results: Each patient had a progressively enlarging retinal mass associated with a total exudative retinal detachment and neovascular glaucoma. Enucleation was necessary in each case because the affected eye became blind and painful. The mean patient age at enucleation was 7 years, and the median age was 3 years. At the time of enucleation the tumors ranged from 10 to 20 mm in basal diameter and from 10 to 25 mm in thickness. Histopathologic studies of each eye revealed a giant cell astrocytoma that had produced a total exudative retinal detachment. The tumor cells showed positive immunoreactivity to neuron-specific enolase and glial fibrillary acidic protein. The retinal neoplasms in these cases were identical histopathologically to the subependymal giant cell astrocytoma that typifies TSC in the brain. One tumor filled the entire eye and perforated the globe. Although the lesions simulated retinoblastoma clinically, each patient had ocular and systemic findings of TSC, supporting the diagnosis of astrocytic hamartoma.

Conclusions: Although retinal astrocytic lesions of TSC generally are stationary, they can sometimes grow relentlessly and cause severe ocular complications. Patients with retinal astrocytic hamartomas should have serial ophthalmic evaluations because of this possibility.

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Figures

Figure 1
Figure 1
Case 2. Fundus photograph showing bilobed nodular mass arising from the retina and overlying the optic nerve.
Figure 2
Figure 2
Case 2. Gross appearance of sectioned globe showing bilobed epipapillary retinal mass and total retinal detachment.
Figure 3
Figure 3
Case 1. Gross appearance of sectioned globe showing exophytic retinal mass and total retinal detachment.
Figure 4
Figure 4
Case 3. Gross appearance of sectioned globe showing yellowish white epipapillary mass and total retinal detachment.
Figure 5
Figure 5
Case 4. Gross appearance of sectioned globe showing neoplasm totally filling interior of eye and extending anteriorly through corneoscleral perforation.
Figure 6
Figure 6
Case 2. Neovascular glaucoma. Florid fibrovascular membrane flattens anterior iridic surface central to wide peripheral anterior synechia. Ectropion iridis is present (hematoxylin-eosin, original magnification ×50). N indicates area of necrosis.
Figure 7
Figure 7
Case 3. Low magnification photomicrograph showing largely endophytic epipapillary tumor with extensive sheets of basophilic necrosis. The neighboring retina is detached by densely proteinaceous subretinal fluid (hematoxylin-eosin, original magnification ×10).
Figure 8
Figure 8
Case 2. Giant cells. Round or oval cells have abundant pale eosinophilic cytoplasm with peripheral vacuolization and round nuclei with nucleoli. They resemble cells found in subependymal giant cell astrocytoma (hematoxylin-eosin, original magnification ×100).
Figure 9
Figure 9
Case 1. Plump spindle cells in retinal stalk. Plump fusiform cells have intensely eosinophilic cytoplasm and oval nuclei that are smaller and darker (hematoxylin-eosin, original magnification ×100).
Figure 10
Figure 10
Case 2. Calcospherites. Tumor contains multilaminated, basophilic calcium deposits (hematoxylin-eosin, original magnification ×100).
Figure 11
Figure 11
Case 2. Immunoreactivity of giant cells for neuron-specific enolase (NSE) and glial fibrillary acidic protein (GFAP). Giant cells are immunoreactive for NSE, but do not stain for GFAP. Neighboring spindle cells are strongly GFAP-positive (original magnification ×100).
Figure 12
Figure 12
Case 1. Immunoreactivity of giant cells for neuron-specific enolase (NSE) and glial fibrillary acidic protein (GFAP). Spindle cells show intense immunoreactivity for both NSE and GFAP (original magnification ×100).
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References

    1. Shepherd CW, Scheithauer BW, Gomez MR, et al. Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurgery. 1991;28:864–868. - PubMed
    1. Scheithauer BW and Reagan TJ. Neuropathology, Chapter 9. In: Gomez MR, Sampson JR, Whittemore VH, ed. Tuberous Sclerosis Complex, 3rd Edition. New York: Oxford University Press; 1999:101–144.
    1. Shepherd CW, Beard CM, Gomez MR, et al. Tuberous sclerosis complex in Olmsted County, Minnesota 1950–1989. Arch Neurol. 1991;48:400–401. - PubMed
    1. Stevenson AC, Fischer OD. Frequency of epiloia in Northern Ireland. Br J Prev Soc Med. 1956;10:134–135. - PMC - PubMed
    1. Nyboer JH, Robertson DM, Gomez MR. Retinal lesions in tuberous sclerosis. Arch Ophthalmol. 1976;94:1277–1980. - PubMed

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