Trilateral retinoblastoma with an RB1 deletion inherited from a carrier mother: A case report

A presentation of intracranial tumor in bilateral and unilateral retinoblas toma with or without family history is termed as trilateral retinoblastoma (TRB). It always occurs either as a pineal tumor or supra/parasellar tumor, which differ in presentation and prognosis. We report here the first case of TRB with transmission of retinoblastoma gene (RB1) deletion from an unaf fected mother (a carrier), presenting as concurrent intracranial neoplasm w ith bilateral retinoblastoma. The presence of RB1 mutation in both child an d mother could be responsible for development of intracranial neoplasm whic h occurred simultaneously with bilateral RE in our patient. Our patient, wh o had a suprasellar mass, received radiation and intrathecal chemotherapy, and died 6 months after diagnosis. The occurrence of intracranial tumor in an asymptomatic stage can be avoided bq routine computed tomography (CT) an d magnetic resonance imaging (MRI) scan, and improved survival can be achie ved by aggressive multimodality therapy (C) Elsevier Science Inc. 1999. All rights reserved.