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Ocular Tumors
Published in Ching-Yu Cheng, Tien Yin Wong, Ophthalmic Epidemiology, 2022
Vishal Raval, Alexander Melendez, Hansell Soto, Alléxya Affonso, Rubens Belfort Neto, Arun D. Singh
This genetic form occurs in 10% of children. These children are born with a change in one copy of the RB1 gene in every cell in the body (“first hit”). The mutation in the other copy of the RB1 gene, the “second hit,” occurs in a retinal cell some time after conception. The inherited gene mutation is highly penetrant and nearly all – about 90% – of such children develop retinoblastoma. Most children with the genetic form develop bilateral retinoblastoma. Some children with the familial form develop pinealoblastoma (trilateral retinoblastoma).7 The other clinical variant, retinoma, is an uncommon benign form of retinoblastoma.
Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Survivors of the inherited form of Rb have a 200 times greater than average risk for developing a second tumor,57 the most common being osteosarcoma (OS).59 This does not appear to be the case in the nonhereditary form of the tumor. Radiation treatment of Rb undoubtedly contributes to the high incidence of osteosarcomas, with many tumors arising within the irradiated field, but more than one third of OS in Rb patients occur in unirradiated bones. Another interesting second neoplasm in patients with inherited Rb is pinealoma.58 Since the pinea is considered a vestigial photoreceptor, this condition has been referred to as “trilateral retinoblastoma”.
Radiology of Brain Tumors
Published in Swati Goyal, Neuroradiology, 2020
An aggressive, round blue cell tumor located in the pineal region. When it is associated with hereditary retinoblastoma, it is called a trilateral retinoblastoma.
Ten things you learned in your residency about retinoblastoma that have changed the 2023 Victor T. Curtin Lecture
Published in Ophthalmic Genetics, 2023
Three and a half percent of germline patients develop midline brain tumors - all in the first three years of life. They have been called “trilateral retinoblastoma” and most commonly develop in the pineal gland but can also be in the suprastellar area or even the cerebellum. Half of the patients who develop trilateral disease have the brain tumor detected before the diagnosis of retinoblastoma, so the incidence once diagnosed with retinoblastoma is under 2%. There are many strategies employed worldwide for the detection-all based on MR imaging. Some do scans every three months (for 5 years), while others scan every 6 or 12 months till the age of 3 or 5. Scanning does detect these tumors earlier (a year) than when patients have signs/symptoms but survival is the same … and poor. While a few patients (perhaps 25%) with trilateral retinoblastoma survive, most die despite aggressive surgery and chemotherapy (28).
Accuracy of Computed Tomography and Magnetic Resonance Imaging for Detection of Pathologic Risk Factors in Patients Diagnosed with Retinoblastoma
Published in Current Eye Research, 2021
Damrong Wiwatwongwana, Pichaya Kulniwatcharoen, Pongsak Mahanupab, Pannee Visrutaratna, Atchareeya Wiwatwongwana
Table 2 shows the initial clinical presentations. For diagnosis of retinoblastoma, all patients had undergone dilated fundus examination with scleral indentation under anesthesia. Ultrasonography was performed as a routine in all patients and the presence of tumor with calcification was noted although other details of location and extent of the tumor were not noted in detail in most patients. The most common presentation was leukocoria seen in 75.8%, the second most frequent was increased intraocular pressure (13.6%), followed by cloudy cornea in 10.6% of patients. Patients were graded according to the International Intraocular Retinoblastoma Classification. In the whole series of 56 patients (68 eyes) who presented at our center, the majority of eyes (37/68 eyes; 54.5%) had advanced disease diagnosed as group E, 23/68 eyes (33.8%) had group D disease, 5/68 eyes (7.4%) had group C, 2/68 eyes (2.9%) group B and only one eye (1.5%) had group A retinoblastoma. Eyes with group A, B, and C disease were preserved and treated focally, therefore were not included in the imaging analysis. Regional metastasis or orbital retinoblastoma occurred in four patients (7.1%). Three patients (5.4%) had bone metastasis and three patients (5.4%) had intracranial metastasis. One patient had trilateral retinoblastoma.
Full-width postlaminar optic nerve tumor invasion of retinoblastoma as risk-factor for leptomeningeal spread of retinoblastoma. A case report and review of the literature
Published in Ophthalmic Genetics, 2020
Marcus C. de Jong, Paul van der Valk, Robin W. Jansen, Floor Abbink, Machteld Bosscha, Jonas A. Castelijns, Annette C. Moll, Pim de Graaf
One in every 17,000 children develops retinoblastoma, making it the most prevalent ocular pediatric cancer (1). Survival after retinoblastoma is high with percentages well over 95% in developed countries (2). In high-income countries, only a small percentage of patients develop trilateral retinoblastoma (3, 4), metastases (5, 6), or a second primary tumor (7), in whom survival is considerably lower.