Trilateral retinoblastoma (TRB) is a rare condition characterized by an intracranial neuroblastic tumor associated with bilateral or unilateral retinoblastoma (RB). The outcome is almost always fatal. An 18-month-old patient with familial bilateral RB was referred for a pineal lesion detected on a screening by magnetic resonance imaging. The child, considered inoperable by 2 different neurosurgical teams, was treated with conventional chemotherapy (methotrexate, vincristine, vepeside, cyclophosphamide, and carboplatin) plus tandem transplantation (vepeside/carboplatin and thiotepa/mephalan) followed by local radiotherapy. At 80 months from the diagnosis of TRB, the patient is alive and in complete remission, with no neuropsychologic consequences. An early and aggressive treatment may improve the prognosis of TRB.
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http://dx.doi.org/10.1097/MPH.0b013e3181e90031 | DOI Listing |
Semin Ophthalmol
January 2025
Division of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Purpose: Trilateral retinoblastoma (TRB), intracranial neoplasm in heritable retinoblastoma patients, is a very rare fatal disease. Many ocular oncology centers conduct routine screening of retinoblastoma patients by brain imaging. Nevertheless, there is a debate regarding its ability to prolong TRB patients' survival and the number-needed-to-treat.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Biology, School of Medicine, University of Zagreb, Salata 3, 10000, Zagreb, Croatia.
Retinoblastoma, a rare childhood eye cancer, has hereditary and non-hereditary forms. While TNM classification helps in prognosis, understanding molecular mechanisms is vital for the clinical behavior of retinoblastoma prediction. Our study aimed to analyze the expression levels of key Wnt pathway proteins, GSK3β, LEF1, β-catenin, and DVL1, and associate them to non-phosphorylated active form (pRb) and the phosphorylated inactive form (ppRb) and N-myc expression, in retinoblastoma cells and healthy retinal cells, in order to elucidate their roles in retinoblastoma and identify potential targets that could help to improve diagnostic and therapy.
View Article and Find Full Text PDFNeuroradiology
December 2024
Department of Radiology, Neuroradiology Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Pediatr Blood Cancer
November 2024
Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Am J Ophthalmol
December 2024
From the European Retinoblastoma Imaging Collaboration (ERIC) (C.M.d.B., R.W.J., M.K., S.S., P.M., P.G., S.G., P.d.G., M.C.d.J.); Cancer Center Amsterdam, Imaging and Biomarkers (C.M.d.B., R.W.J., J.d.H., A.C.M., P.d.G., M.C.d.J.), Amsterdam, the Netherlands; Department of Radiology and Nuclear Medicine, Amsterdam UMC location Vrije Universiteit Amsterdam (C.M.d.B., R.W.J., J.d.H., P.d.G., M.C.d.J.), Amsterdam, the Netherlands.
Purpose: To evaluate the effectiveness of baseline screening and follow-up with magnetic resonance imaging (MRI) for detecting trilateral retinoblastoma (TRb) and assessing the risk of TRb development.
Design: Prospective multicenter cohort study.
Methods: A total of 607 retinoblastoma patients from 2012 through 2022 were included and followed up until September 1, 2023.
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