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F.L. Munier, M. Beck–Popovic, H. Abouzeid, P. Maeder, A. Balmer, D.F. Schorderet; Concomitant Occurrence of Parasellar and Pineal Tumors in Bilateral Retinoblastoma: A Case of Quadrilateral Retinoblastoma ? . Invest. Ophthalmol. Vis. Sci. 2006;47(13):2293.
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To describe the management and follow–up of a bilaterally affected retinoblastoma patient with tumoral involvement of the parasellar region and pineal gland.
A boy of one year of age was investigated for bad vision and diagnosed with bilateral retinoblastoma. He underwent full metastatic oncologic work–up, including, cerebro–spinal RMI, lumbar punction, bone scan, bilateral bone marrow aspiration/biopsy and thoraco–abdominal Ct scan. Family history was negative for retinoblastoma. A mutational screening was performed. Each exon of the RB1 gene was amplified from genomic DNA and screened by DHPLC. Amplicons with abnormal retention times were directly sequenced on both strands with the Big Dye reaction kit.
A bilateral group D retinoblastoma (according to the International ABC classification) was documented at presentation. The oncologic work–up revealed an important intrasellar tumor of 29x15x16mm as well as a pineal cyst of 7mm. In addition, there was a leptomeningeal dissemination in the CSF and on spinal MRI, and an endocrinological deficiency of T4 and cortisone. Mutation analysis revealed a nonsense g.64348 C>T (pR320X) mutation in exon 10. The patient was put on chemotherapy with alternating cycles of VP16/carboplatin and VCR/cyclophosphamide, with intrathecal injections of thiotepa. He responded very well with an important tumor reduction in both eyes, a > 80% reduction of the intrasellar tumor, while the pineal cyst remained stable. He is still under treatment.
We recently described the presence of pineal cysts in 5 % of bilateral retinoblastoma cases (Pediatric Blood and Cancer, 2005 (published on–line 7 July 2005). To the best of our knowledge this case report is the first to present a patient with trilateral retinoblastoma and pineal cyst. The underlying pathophysiological mechanism remains to be determined.
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