Retinal tumors in tuberous sclerosis; a report of two cases.
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BACKGROUND: Although intra-retinal tumor has long been staged presurgically according to the Reese-Ellsworth (R-E) system, retinoblastoma differs from other pediatric neoplasms in never having had a widely accepted classification system that encompasses the entire spectrum of the disease. Comparisons among studies that consider disease extension, risk factors for extra-ocular relapse, and response to therapy require a universally accepted staging system for extra-ocular disease. PROCEDURE: A committee of retinoblastoma experts from large centers worldwide has developed a consensus classification that can encompass all retinoblastoma cases and is presented herein. Patients are classified according to extent of disease and the presence of overt extra-ocular extension. In addition, a proposal for substaging considering histopathological features of enucleated specimens is presented to further discriminate between Stage I and II patients. RESULTS: The following is a summary of the classification system developed-Stage 0: Patients treated conservatively (subject to presurgical ophthalmologic classifications); Stage I: Eye enucleated, completely resected histologically; Stage II: Eye enucleated, microscopic residual tumor; Stage III: Regional extension [(a) overt orbital disease, (b) preauricular or cervical lymph node extension]; Stage IV: Metastatic disease [(a) hematogenous metastasis: (1) single lesion, (2) multiple lesions; (b) CNS extension: (1) prechiasmatic lesion, (2) CNS mass, (3) leptomeningeal disease]. A proposal is also presented for substaging of enucleated Stages I and II eyes. CONCLUSIONS: The proposed staging system is the product of an international effort to adopt a uniform staging system for patients with retinoblastoma to cover the whole spectrum of the disease.
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ANIMAL STUDIED: At routine vaccination a tumor in the right eye of a Golden Retriever was diagnosed. PROCEDURE: The eye was enucleated, fixed in formalin and processed according to routine paraffin technique. Standard histologic, histochemical and immunohistochemical stainings were applied. Formalin-fixed tissue was used for electron microscopic examination. RESULTS: The tumor originated from the retina and was composed of two different morphologic parts, a retinoblastoma-like part of small neuroepithelial cells and a medulloepithelioma-like part of columnar cells arranged in cords. DISCUSSION AND CONCLUSION: It is discussed whether the tumor had its origin in different clones or in one clone, and it is suggested that the double differentiation might be the result of a transformation of retinal cells, demasking stem cell-like potentials.
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PURPOSE: To document 2 cases of progressively enlarging retinal astrocytoma that caused exudative retinal detachment, vitreous hemorrhage, and tumor seeding, simulating retinoblastoma in 1 case and choroidal melanoma in the other. DESIGN: Interventional case reports. PARTICIPANTS: Two patients. METHODS: Two patients with visual loss from an atypical, enlarging amelanotic retinal mass were evaluated. The first patient, a 14 year-old otherwise healthy girl, had a noncalcified gelatinous retinal mass with prepapillary involvement and surrounding retinal traction, as well as overlying vitreous hemorrhage and vitreous seeds. Over 37 months, the tumor grew in basal dimension from 4 mm to 10 mm. Retinal astrocytoma was suspected, but the presence of tumor enlargement and vitreous seeding raised concern for possible retinoblastoma. Fine-needle aspiration biopsy was performed. The second patient, a 33-year-old woman, had an amelanotic mass develop in the macula of her amblyopic left eye. Over 2 years, the mass enlarged to 9.5 mm in basal dimension and 6.3 mm in thickness, and total serous retinal detachment developed. Choroidal melanoma with retinal invasion was clinically suspected. Enucleation was performed. RESULTS: In patient 1, cytologic examination revealed bland spindle cells with fibrillar cytoplasm consistent with an astrocytic tumor of the retina. Enucleation was subsequently performed because of continued tumor growth, progressive retinal detachment, and visual loss. Histopathologic examination confirmed astrocytoma of the retina and optic disc. In patient 2, enucleation revealed astrocytoma of the retina and optic disc with total retinal detachment. There was no evidence of systemic tuberous sclerosis in either patient. CONCLUSIONS: Retinal astrocytoma can show progressive enlargement, retinal detachment, and vitreous seeding, findings that can mislead the clinician toward the diagnosis of retinoblastoma or choroidal melanoma.
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