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Trilateral Retinoblastoma

Saadiah Goolam, Hemant Kana, Nicky Welsh, Linda Wainwright, Janet Poole, Ismail Mayet
Aim: This paper presents a 20-year review of retinoblastoma in Johannesburg, South Africa, aiming to better characterize the disease in this sub-Saharan setting. Methods: The study represents a retrospective case series of retinoblastoma patients presenting to Charlotte Maxeke Johannesburg Academic Hospital and Chris Hani Baragwanath Academic Hospital between January 1, 1992, and December 31, 2011. Results: The total number of cases identified was 282, with 245 meeting the study inclusion criteria...
April 2018: Ocular Oncology and Pathology
Helen Dimaras, Timothy W Corson
The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the naked eye. This accessibility enables unique imaging modalities. Here, we review this cancer for a neuroscience audience, highlighting these clinical and research imaging options, including fundus imaging, optical coherence tomography, ultrasound, and magnetic resonance imaging. We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations...
January 3, 2018: Journal of Neuroscience Research
Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%...
2017: PloS One
Ryuya Yamanaka, Azusa Hayano, Yasuo Takashima
We conducted a systematic review of 72 studies to characterize trilateral retinoblastomas. Kaplan-Meier analysis was used to estimate survival, and statistical significance was assessed by using a log-rank test. We analyzed 211 cases of trilateral retinoblastomas. The average age of onset of retinoblastoma was 0.79 ± 1.38 years, and the average latency period between the onset of retinoblastomas and trilateral retinoblastomas was 1.49 ± 1.76 years. The brain tumors were found before the retinoblastoma diagnosis in 6 cases (3...
August 16, 2017: Neurosurgical Review
Tero T Kivelä, Theodora Hadjistilianou
From 7% to 10% of all retinoblastomas and from 44% to 71% of familial retinoblastomas in developed countries are diagnosed in the neonatal period, usually through pre- or post-natal screening prompted by a positive family history and sometimes serendipitously during screening for retinopathy of prematurity or other reasons. In developing countries, neonatal diagnosis of retinoblastoma has been less common. Neonatal retinoblastoma generally develops from a germline mutation of RB1, the retinoblastoma gene, even when the family history is negative and is thus usually hereditary...
July 2017: Asia-Pacific Journal of Oncology Nursing
Yishai Avior, Elyad Lezmi, Dorit Yanuka, Nissim Benvenisty
Human embryonic stem cells (hESCs) provide a platform for studying human development and understanding mechanisms underlying diseases. Retinoblastoma-1 (RB1) is a key regulator of cell cycling, of which biallelic inactivation initiates retinoblastoma, the most common congenital intraocular malignancy. We developed a model to study the role of RB1 in early development and tumor formation by generating RB1-null hESCs using CRISPR/Cas9. RB1-/- hESCs initiated extremely large teratomas, with neural expansions similar to those of trilateral retinoblastoma tumors, in which retinoblastoma is accompanied by intracranial neural tumors...
May 9, 2017: Stem Cell Reports
Thomas Naert, Robin Colpaert, Tom Van Nieuwenhuysen, Dionysia Dimitrakopoulou, Jannick Leoen, Jurgen Haustraete, Annekatrien Boel, Wouter Steyaert, Trees Lepez, Dieter Deforce, Andy Willaert, David Creytens, Kris Vleminckx
Retinoblastoma is a pediatric eye tumor in which bi-allelic inactivation of the Retinoblastoma 1 (RB1) gene is the initiating genetic lesion. Although recently curative rates of retinoblastoma have increased, there are at this time no molecular targeted therapies available. This is, in part, due to the lack of highly penetrant and rapid retinoblastoma animal models that facilitate rapid identification of targets that allow therapeutic intervention. Different mouse models are available, all based on genetic deactivation of both Rb1 and Retinoblastoma-like 1 (Rbl1), and each showing different kinetics of retinoblastoma development...
October 14, 2016: Scientific Reports
Aditya Kumar Gupta, Michael Jones, Kristina Prelog, John Bui, Jacqui Zhu, Anthea Ng, Luciano Dalla-Pozza
Patients with familial/heritable retinoblastoma (RB) are at increased risk of developing second malignancies throughout life, including a pineoblastoma (trilateral RB [TRB]) in early childhood. Current guidelines recommend regular surveillance brain imaging for those with heritable RB until 5 years of age. The presence of pineal cysts has been reported in patients with RB. Pineal cysts are thought to arise due to focal degeneration of the pineal gland and can be found incidentally. The finding of pineal abnormalities including cysts in children with RB on imaging is disconcerting, as it raises the possibility of an underlying malignancy, specifically a pinealoblastoma...
September 2016: Pediatric Hematology and Oncology
Simone G A Selistre, Marcelo K Maestri, Patricia Santos-Silva, Lavinia Schüler-Faccini, Luis S P Guimarães, Juliana Giacomazzi, Mario C Evangelista Júnior, Patricia Ashton-Prolla
BACKGROUND: Retinoblastoma (Rb) is the most common intraocular tumor diagnosed in children in Brazil. However, detailed information is lacking regarding patient clinical demographics. This study aimed to determine the clinical profile of patients with Rb who were treated in a public university hospital in southern Brazil from 1983 to 2012. METHODS: Patients' medical records were reviewed to retrospectively identify patients with a principal diagnosis of Rb. Rb was classified as hereditary or non-hereditary...
April 3, 2016: BMC Pediatrics
Gabriel Costa de Andrade, Neviçolino Pereira de Carvalho Pinto, Márcia Motono, Martha Motono Chojniak, Rubens Chojniak, Stephania Martins Bezerra
Retinoblastomas (RB) are the main forms of intraocular tumor in childhood, with a worldwide incidence of 1 case per 15,000 to 20,000 live births. Trilateral RB (RBT) is a rare combination of unilateral or bilateral RB with a midline intracranial neoplasm of neuroblastic origin, usually found in the pineal region or the suprasellar region, presenting variable incidence of 0.5% up to 6% among patients with RB. The article reports a case of unilateral RBT in a patient treated at Hospital A.C.Camargo.
August 2015: Revista da Associação Médica Brasileira
Marcus C de Jong, Wijnanda A Kors, Pim de Graaf, Jonas A Castelijns, Annette C Moll, Tero Kivelä
PURPOSE: To estimate the incidence of trilateral retinoblastoma in patients with retinoblastoma. DESIGN: Systematic review and meta-analysis. METHODS: We searched Medline and Embase for scientific literature published between January 1966 and July 2015 that assessed trilateral retinoblastoma incidence. We used a random-effects model for the statistical analyses. RESULTS: We included 23 retinoblastoma cohorts from 26 studies...
December 2015: American Journal of Ophthalmology
N Ruiz del Río, J M Abelairas Gómez, F J Alonso García de la Rosa, J M Peralta Calvo, A de las Heras Martín
OBJECTIVE: To determine the importance of intratumoral genetic analysis in the diagnosis of germ-line mutations in patients with retinoblastoma. To underline the importance of performing these genetic tests in every case of retinoblastoma. METHOD: Intratumoral genetic analysis of RB1 mutation was performed on 17 enucleated eyes that were non-responsive to conservative treatment. Patients had no family history of retinoblastoma, and lesions were always single. The identified mutations were then also studied in peripheral blood analysis...
December 2015: Archivos de la Sociedad Española de Oftalmología
Michael V Ortiz, Ira J Dunkel
Retinoblastoma is the most common primary intraocular malignancy of childhood. It typically presents with leukocoria or strabismus. In later stages of the disease, the child may exhibit proptosis, buphthalmos, or hypopyon. The pathognomonic molecular aberration is a loss of function mutation in the RB1 gene on chromosome 13q. The degree of tumor involvement within the eye is defined by its group. Grouping was historically done with Reese-Ellsworth System. Recent therapeutic advances have led to the development of a new grouping system, the International Classification of Retinoblastoma (ICRB)...
February 2016: Journal of Child Neurology
Maria Antonietta De Ioris, Paola Valente, Francesco Randisi, Luca Buzzonetti, Andrea Carai, Raffaele Cozza, Francesca Del Bufalo, Antonino Romanzo, Adriano Angioni, Antonella Cacchione, Bruno Bernardi, Angela Mastronuzzi
BACKGROUND: Trilateral retinoblastoma (TRB) is a rare disease associating bilateral retinoblastoma (RB) with primitive intracranial neuroblastic tumor. AIM: To verify the occurrence of TRB in a single-Center case series and point out the clinical relevance of a baseline brain magnetic resonance imaging (MRI) in RB, focusing on pineal gland lesions. PATIENTS AND METHODS: Baseline MRI was routinely performed in all cases of RB from 1999. All MRIs were reviewed for this study and the RB database was checked in order to identify patients characteristics, treatments and follow-up...
December 2014: Anticancer Research
Helen Dimaras
No abstract text is available yet for this article.
September 2014: Lancet Oncology
Marcus C de Jong, Wijnanda A Kors, Pim de Graaf, Jonas A Castelijns, Tero Kivelä, Annette C Moll
BACKGROUND: About 5% of children with retinoblastoma from germline mutation of the RB1 gene are at risk of developing trilateral retinoblastoma--intraocular retinoblastoma combined with a histologically similar brain tumour, most commonly in the pineal gland. We aimed to provide a systematic overview of published data for trilateral retinoblastoma, and to analyse how survival has changed. METHODS: We searched Medline and Embase for scientific literature published between Jan 1, 1966, and April 14, 2014, that assessed trilateral retinoblastoma cases...
September 2014: Lancet Oncology
Koramadai Karuppusamy Kamaleshwaran, Deepu K Shibu, Vyshakh Mohanan, Ajit Sugunan Shinto
Trilateral retinoblastoma (TRb) is a rare syndrome associating hereditary bilateral or unilateral retinoblastoma (Rb) with an intracranial neuroblastic tumor. The latter arises in the midline, most often in the pineal gland, less frequently in the suprasellar or parasellar region. The outcome is usually fatal because of secondary spinal dissemination. We report 10-year-old boy presented with a right eye proptosis and leukocoria, and the magnetic resonance imaging (MRI) showed right orbital mass lesion infiltrating optic nerve and diagnosis of retinoblastoma was made...
April 2014: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
Gemma D'Elia, Simona Grotta, Francesca Del Bufalo, Maria Antonietta De Ioris, Cecilia Surace, Pietro Sirleto, Antonino Romanzo, Raffaele Cozza, Franco Locatelli, Adriano Angioni
Retinoblastoma (RB) is the most common eye tumor in children; it originates from germline and/or somatic mutations that inactivate both alleles of the RB1 gene located on chromosome 13q14. Patients with unilateral or bilateral RB infrequently may develop an additional intracranial neuroblastic tumor, usually in the pineal gland, which characterizes the trilateral retinoblastoma (TRB) syndrome. The most common chromosomal abnormalities detected in TRB are deletions at 13q14, even if some rare cases of RB1 point mutations were described...
November 2013: Cancer Genetics
N Ruiz Del Río, J M Abelairas Gómez, F J Alonso García de la Rosa, J M Peralta Calvo, A de Las Heras Martín
OBJETIVE: To determine the correlation between the presence of genetic anomalies identified in the RB1 gene and the development of trilateral retinoblastoma. METHOD: No patients with primitive neuroectodermal tumour (PNET) were identified out of a total of 206 patients, but there were 17 cases of pineal cysts, of which 11 had a genetic study. RESULTS: Of the 11 patients who had a genetic study performed, the anomaly in the germinal line was identified in 8 cases, which was equivalent to 100% of the bilateral retinoblastomas, and 25% of the unilateral ones...
January 2014: Archivos de la Sociedad Española de Oftalmología
Guillermo L Chantada, Adriana C Fandiño, Enrique Schvartzman, Elsa Raslawski, Paula Schaiquevich, Julio Manzitti
BACKGROUND: Few studies were reported from developing countries regarding patient outcome and ocular survival in children with bilateral retinoblastoma treated with chemoreduction compared to external beam radiotherapy (EBRT). PROCEDURE: We undertook a retrospective study of three treatment eras: (1) (1988-1995) n = 68 when EBRT was used as primary conservative therapy; (2) (1995-2003) n = 46 when carboplatin-based systemic chemoreduction was introduced and (3) (2003-2009) (n = 83) when additional periocular chemotherapy was added for advanced tumors and pre-enucleation chemotherapy was given for those with massive buphthalmia...
May 2014: Pediatric Blood & Cancer
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