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Is screening for primitive neuroectodermal tumors in patients with unilateral retinoblastoma necessary?,☆☆

https://doi.org/10.1016/S1091-8531(00)90012-0Get rights and content

Abstract

Retinoblastoma is the most common childhood intraocular tumor, occurring in 1 of 18,000 live births. Retinoblastoma may occur as a germinal mutation or a somatic mutation. Forty percent of retinoblastoma cases are caused by a germline mutation and include those patients with a positive family history of the disease. Children with hereditary forms usually have multifocal, bilateral retinoblastoma, whereas children with the somatic form have unilateral, unifocal disease. However, up to 15% of cases of sporadic unilateral retinoblastoma may be hereditary. It is important to recognize that this subgroup of unilateral patients remains at risk for the development of second tumors as well as second primary tumors of the intracranial midline, or “trilateral retinoblastoma.” We report a case of a 2-month-old child with unilateral retinoblastoma in whom pinealoblastoma subsequently developed.

J AAPOS 2000;4:54-6.

Section snippets

Case report

Leukocoria of the left eye was diagnosed in a 7-week-old girl. She had been born at term after an uneventful pregnancy and a normal vaginal delivery. Findings on ophthalmic examination revealed a stage V retinoblastoma of the left eye. No tumor was observed in the right eye. Computed tomographic (CT) findings revealed a calcified left retrolenticular lesion occupying approximately 50% of the ocular volume. The brain, specifically the pineal region, was unremarkable. No radiographic evidence was

Discussion

In 1977, Jakobiec et al1 first described the occurrence of bilateral retinoblastoma with associated pinealoblastoma. Since then, numerous reports have been made of similar cases, describing the syndrome as trilateral retinoblastoma. On the other hand, unilateral retinoblastoma with a pinealoblastoma is seldom documented in the literature. 1, 2, 3, 4, 5 In 1985, Whittle et al6 reported a nonhereditary case of unilateral retinoblastoma with concomitant pinealoblastoma in a 10-month-old boy who

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Supported in part by Research to Prevent Blindness and That Man May See, Inc. Submitted March 10, 1999.

☆☆

Reprint requests: Joan M. O'Brien, MD, Department of Ophthalmology, University of California, San Francisco, 10 Kirkham Street, Box 0730, San Francisco, CA 94143-0730.

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