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Trilateral Retinoblastoma

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https://www.readbyqxmd.com/read/27739525/crispr-cas9-mediated-knockout-of-rb1-and-rbl1-leads-to-rapid-and-penetrant-retinoblastoma-development-in-xenopus-tropicalis
#1
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
https://www.readbyqxmd.com/read/27689687/pineal-cysts-a-benign-association-with-familial-retinoblastoma
#2
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 30, 2016: Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/27038613/retinoblastoma-in-a-pediatric-oncology-reference-center-in-southern-brazil
#3
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
https://www.readbyqxmd.com/read/26466209/trilateral-retinoblastoma-with-unilateral-eye-involvement
#4
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
https://www.readbyqxmd.com/read/26374932/the-incidence-of-trilateral-retinoblastoma-a%C3%A2-systematic-review-and-meta-analysis
#5
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
https://www.readbyqxmd.com/read/26279484/genetic-analysis-in-retinoblastoma-and-peripheral-blood-correlation
#6
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
https://www.readbyqxmd.com/read/26023180/retinoblastoma
#7
REVIEW
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
https://www.readbyqxmd.com/read/25503186/baseline-central-nervous-system-magnetic-resonance-imaging-in-early-detection-of-trilateral-retinoblastoma-pitfalls-in-the-diagnosis-of-pineal-gland-lesions
#8
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
https://www.readbyqxmd.com/read/25126965/evidence-based-care-for-trilateral-retinoblastoma
#9
COMMENT
Helen Dimaras
No abstract text is available yet for this article.
September 2014: Lancet Oncology
https://www.readbyqxmd.com/read/25126964/trilateral-retinoblastoma-a-systematic-review-and-meta-analysis
#10
REVIEW
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
https://www.readbyqxmd.com/read/24761068/rare-case-of-trilateral-retinoblastoma-with-spinal-canal-drop-metastasis-detected-with-fluorine-18-fluorodeoxyglucose-positronemission-tomography-computed-tomography-imaging
#11
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
https://www.readbyqxmd.com/read/24412019/two-novel-cases-of-trilateral-retinoblastoma-genetics-and-review-of-the-literature
#12
REVIEW
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
https://www.readbyqxmd.com/read/24269417/-trilateral-retinoblastoma-correlation-between-the-genetic-anomalies-of-the-rb1-gene-and-the-presence-of-pineal-gland-cysts
#13
COMPARATIVE STUDY
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
https://www.readbyqxmd.com/read/24243706/impact-of-chemoreduction-for-conservative-therapy-for-retinoblastoma-in-argentina
#14
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
https://www.readbyqxmd.com/read/24119165/a-10-year-experience-of-outcome-in-chemotherapy-treated-hereditary-retinoblastoma
#15
Katarina Bartuma, Niklas Pal, Sonja Kosek, Stefan Holm, Charlotta All-Ericsson
PURPOSE: The aim is to report the 10-year retrospective experience of systemic chemotherapy for a population-based group of patients with hereditary retinoblastoma at a national referral centre. The outcomes include control rates, treatment side-effects, adjuvant therapy, failure rate, survival, secondary cancers and visual acuity. METHODS: All patients (n = 24, 46 eyes) diagnosed with retinoblastoma and treated with systemic chemotherapy at a national referral centre during 2001-2011 were included...
August 2014: Acta Ophthalmologica
https://www.readbyqxmd.com/read/23901719/trilateral-retinoblastoma-with-unilateral-eye-involvement
#16
Irfanullah Shah, Adnan Baig, Abdul Razzaq, Anum Faruqi, Aun Ali, Faraz Qayyum Khan
Trilateral retinoblastoma (TRb) is a rare combination of unilateral or bilateral retinoblastoma with an ectopic midline intracranial neuroblastic neoplasm (primitive neuroectodermal tumour) usually in the area of pineal gland or sellar region. TRb can occur with both familial and sporadic forms of retinoblastoma. An occurrence of this rare tumour in a 12-year-old boy who had unilateral retinoblastoma in association with ectopic suprasellar primitive neuroectodermal tumour (PNET) is reported here. To the best of our knowledge, this is the first case report in Pakistan on TRb with suprasellar mass...
July 2013: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/23478798/diffusion-weighted-imaging-to-assess-treatment-response-in-a-child-with-trilateral-retinoblastoma
#17
Gregory A Bonci, Marc K Rosenblum, Stephen W Gilheeney, Ira J Dunkel, Andrei I Holodny
Trilateral retinoblastoma (TRb) is a rare condition in which children with bilateral retinoblastoma develop primary midline intracranial neuroblastic tumors. The intracranial lesions are difficult to follow after treatment due to residual mass-like enhancement that may represent persistent tumor or treated disease. We highlight a case where close evaluation of diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) characteristics accurately depicted the extent of treated disease versus residual tumor after chemotherapy...
September 2013: Pediatric Radiology
https://www.readbyqxmd.com/read/23463749/trilateral-retinoblastoma-in-a-patient-with-peutz-jeghers-syndrome
#18
Anthony M Raizis, David Van Mater, Lauri A Aaltonen, Dietmar Lohmann, Michelle S Cheale, Vivienne M Bickley, Peter M George, Yaolin Zhou, Philip M Rosoff
Germline loss of function mutations in tumor suppressor genes RB1 and LKB1/STK11 are associated with the autosomal dominant cancer predisposing syndromes familial retinoblastoma and Peutz-Jeghers syndrome (PJS), respectively. We present a rare case of a young woman with trilateral retinoblastoma diagnosed as an infant who survived and was then diagnosed with PJS as a teenager. There was no family history of either disorder. Analysis of the LKB1/STK11 gene sequence identified a germline frameshift mutation (c...
May 2013: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/22828375/high-dose-chemotherapy-followed-by-stem-cell-transplantation-in-the-management-of-retinoblastoma-a-systematic-review
#19
REVIEW
Imad Jaradat, Rasmi Mubiden, Ahmed Salem, Fawzi Abdel-Rahman, Iyad Al-Ahmad, Abdelatief Almousa
BACKGROUND AND OBJECTIVES: In recent years, there has been an increasing role for stem cell transplantation in the management of retinoblastoma. The aim of this study was to systematically review the role high-dose chemotherapy followed by stem cell transplantation in the treatment of patients with metastatic or relapsed, trilateral or bilateral advanced retinoblastoma, and in patients with tumor at the surgical margin of the optic nerve and/or extrascleral extension. DESIGN: Systematic literature review...
2012: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/22802019/trilateral-retinoblastoma-neuroimaging-characteristics-and-value-of-routine-brain-screening-on-admission
#20
MULTICENTER STUDY
Firazia Rodjan, Pim de Graaf, Hervé J Brisse, Sophia Göricke, Philippe Maeder, Paolo Galluzzi, Isabelle Aerts, Claire Alapetite, Laurence Desjardins, Regina Wieland, Maja Beck Popovic, Manuel Diezi, Francis L Munier, Theodora Hadjistilianou, Dirk L Knol, Annette C Moll, Jonas A Castelijns
Trilateral retinoblastoma (TRb) is a rare disease associating intraocular retinoblastoma with intracranial primitive neuroectodermal tumor. Treatment is difficult and prognosis is poor. This multicenter study evaluates clinical findings and MR imaging characteristics of associated intracranial tumors in Rb patients. Clinical data of 17 patients (16 TRb and 1 quadrilateral Rb patients) included time intervals between Rb and TRb diagnosis and presence of baseline brain-imaging (BBI). Two reviewers reviewed all images individually and one reviewer per center evaluated their images...
September 2012: Journal of Neuro-oncology
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