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retinoblastoma genetics

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https://www.readbyqxmd.com/read/29321667/the-management-of-retinoblastoma
#1
REVIEW
Ido D Fabian, Zerrin Onadim, Esin Karaa, Catriona Duncan, Tanzina Chowdhury, Irene Scheimberg, Shin-Ichi Ohnuma, M Ashwin Reddy, Mandeep S Sagoo
Retinoblastoma (Rb) is the most common primary intraocular malignancy of childhood, but an uncommon paediatric cancer, with a constant incidence worldwide of 1:15,000-1:20,000 live births. Despite its rarity, Rb has served as a cornerstone in the field of oncology in many of the aspects that comprise cancer management, including classification schemes, treatment modalities, genetic testing and screening. Until just over half a century ago, the major treatment for Rb was eye removal, and prognosis was poor with outcome fatal for most children...
January 11, 2018: Oncogene
https://www.readbyqxmd.com/read/29305299/identification-of-oaf-and-pvrl1-as-candidate-genes-for-an-ocular-anomaly-characterized-by-keratolenticular-dysgenesis-and-ectopia-lentis
#2
Dezső David, Deepti Anand, Carlos Araújo, Brian Gloss, Joana Fino, Marcel Dinger, Päivi Lindahl, Minna Pöyhönen, Laivuori Hannele, João Lavinha
Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. The aim of this study is the identification of molecular genetic alterations responsible for those ocular anomalies with neurologic impairment in an individual with a de novo balanced chromosome translocation t(11;18)(q23.3;q11.2)dn. Disruption of OAF, the human orthologue of the Drosophila oaf, by the 11q23.3 breakpoint results in reduced expression of this transcriptional regulator. Furthermore, four most likely nonfunctional chimeric transcripts comprising up to OAF exon 3, derived from the der(11) allele, have also been identified...
January 2, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29286867/lack-of-correlation-between-age-at-diagnosis-and-rb1-mutations-for-unilateral-retinoblastoma-the-importance-of-genetic-testing
#3
Jesse L Berry, Laura Lewis, Emily Zolfaghari, Sarah Green, Bao Han A Le, Thomas C Lee, A Linn Murphree, Jonathan W Kim, Rima Jubran
No abstract text is available yet for this article.
December 29, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29261756/rb1-gene-mutations-in-argentine-retinoblastoma-patients-implications-for-genetic-counseling
#4
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
https://www.readbyqxmd.com/read/29170903/-where-does-it-come-from-experiences-among-survivors-and-parents-of-children-with-retinoblastoma-in-kenya
#5
Amal Gedleh, Siwon Lee, Jessica A Hill, Yvonne Umukunda, Seemi Qaiser, Joy Kabiru, Kahaki Kimani, Lucy Njambi, Grace Kitonyi, Helen Dimaras
Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital...
November 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29124525/heterogeneity-in-retinoblastoma-a-tale-of-molecules-and-models
#6
REVIEW
Sonya Stenfelt, Maria K E Blixt, Charlotta All-Ericsson, Finn Hallböök, Henrik Boije
Retinoblastoma, an intraocular pediatric cancer, develops in the embryonic retina following biallelic loss of RB1. However, there is a wide range of genetic and epigenetic changes that can affect RB1 resulting in different clinical outcomes. In addition, other transformations, such as MYCN amplification, generate particularly aggressive tumors, which may or may not be RB1 independent. Recognizing the cellular characteristics required for tumor development, by identifying the elusive cell-of-origin for retinoblastoma, would help us understand the development of these tumors...
November 9, 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/29117360/racial-and-ethnic-disparities-in-the-incidence-of-pediatric-extracranial-embryonal-tumors
#7
Paola Friedrich, Elena Itriago, Carlos Rodriguez-Galindo, Karina Ribeiro
Background: Few studies have comparatively assessed differences in the incidence of childhood cancer by race and ethnicity that could inform etiologic research. We aimed to identify disparities in the incidence of pediatric extracranial embryonal tumors by race and ethnicity in the United States using a population-based cancer registry. Methods: Cases of extracranial embryonal tumors among children age 0 to 19 years diagnosed between 2000 and 2010 were retrieved from the Surveillance, Epidemiology, and End Results Program 18 (n = 8188)...
October 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29080858/tailored-first-line-and-second-line-cdk4-targeting-treatment-combinations-in-mouse-models-of-pancreatic-cancer
#8
Angela Chou, Danielle Froio, Adnan M Nagrial, Ashleigh Parkin, Kendelle J Murphy, Venessa T Chin, Dalia Wohl, Angela Steinmann, Rhys Stark, Alison Drury, Stacey N Walters, Claire Vennin, Andrew Burgess, Mark Pinese, Lorraine A Chantrill, Mark J Cowley, Timothy J Molloy, Nicola Waddell, Amber Johns, Sean M Grimmond, David K Chang, Andrew V Biankin, Owen J Sansom, Jennifer P Morton, Shane T Grey, Thomas R Cox, John Turchini, Jaswinder Samra, Stephen J Clarke, Paul Timpson, Anthony J Gill, Marina Pajic
OBJECTIVE: Extensive molecular heterogeneity of pancreatic ductal adenocarcinoma (PDA), few effective therapies and high mortality make this disease a prime model for advancing development of tailored therapies. The p16-cyclin D-cyclin-dependent kinase 4/6-retinoblastoma (RB) protein (CDK4) pathway, regulator of cell proliferation, is deregulated in PDA. Our aim was to develop a novel personalised treatment strategy for PDA based on targeting CDK4. DESIGN: Sensitivity to potent CDK4/6 inhibitor PD-0332991 (palbociclib) was correlated to protein and genomic data in 19 primary patient-derived PDA lines to identify biomarkers of response...
October 28, 2017: Gut
https://www.readbyqxmd.com/read/29056300/screening-children-at-risk-for-retinoblastoma-consensus-report-from-the-american-association-of-ophthalmic-oncologists-and-pathologists
#9
Alison H Skalet, Dan S Gombos, Brenda L Gallie, Jonathan W Kim, Carol L Shields, Brian P Marr, Sharon E Plon, Patricia Chévez-Barrios
PURPOSE: To provide a set of surveillance guidelines for children at risk for development of retinoblastoma. DESIGN: Consensus panel. PARTICIPANTS: Expert panel of ophthalmic oncologists, pathologists, and geneticists. METHODS: A group of members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP) with support of the American Association for Pediatric Ophthalmology and Strabismus and the American Academy of Pediatrics (AAP) was convened...
October 18, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29049978/targeting-eif4e-inhibits-growth-survival-and-angiogenesis-in-retinoblastoma-and-enhances-efficacy-of-chemotherapy
#10
Genguo Wang, Zhi Li, Zhuojun Li, Yi Huang, Xiaochun Mao, Chang Xu, Sha Cui
Although the eukaryotic translation initiation factor 4E (eIF4E) has been shown to be critically involved in the transformation and progression of various tumors, little is known about the role of eIF4E in retinoblastoma. In this work, we report that ribavirin, a pharmacologic inhibitor of eIF4E function, effectively targets retinoblastoma and angiogenesis. Ribavirin treatment dose-dependently blocked the growth and stimulated apoptosis in various retinoblastoma cell lines, with IC50 values that are within the clinically achievable range...
October 16, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29049475/potential-of-aqueous-humor-as-a-surrogate-tumor-biopsy-for-retinoblastoma
#11
Jesse L Berry, Liya Xu, A Linn Murphree, Subramanian Krishnan, Kevin Stachelek, Emily Zolfaghari, Kathleen McGovern, Thomas C Lee, Anders Carlsson, Peter Kuhn, Jonathan W Kim, David Cobrinik, James Hicks
Importance: Retinoblastoma (Rb) is one of the first tumors to have a known genetic etiology. However, because biopsy of this tumor is contraindicated, it has not been possible to define the effects of secondary genetic changes on the disease course. Objective: To investigate whether the aqueous humor (AH) of Rb eyes has sufficient tumor-derived DNA to perform genetic analysis of the tumor, including DNA copy number alterations. Design, Setting, and Participants: This investigation was a case series study at a tertiary care hospital (Children's Hospital Los Angeles) with a large Rb treatment center...
November 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29016839/prognostic-relevance-of-genetic-alterations-in-diffuse-lower-grade-gliomas
#12
Kosuke Aoki, Hideo Nakamura, Hiromichi Suzuki, Keitaro Matsuo, Keisuke Kataoka, Teppei Shimamura, Kazuya Motomura, Fumiharu Ohka, Satoshi Shiina, Takashi Yamamoto, Yasunobu Nagata, Tetsuichi Yoshizato, Masahiro Mizoguchi, Tatsuya Abe, Yasutomo Momii, Yoshihiro Muragaki, Reiko Watanabe, Ichiro Ito, Masashi Sanada, Hironori Yajima, Naoya Morita, Ichiro Takeuchi, Satoru Miyano, Toshihiko Wakabayashi, Seishi Ogawa, Atsushi Natsume
Background: Diffuse lower-grade gliomas (LGGs) are genetically classified into 3 distinct subtypes based on isocitrate dehydrogenase (IDH) mutation status and codeletion of chromosome 1p and 19q (1p/19q). However, the subtype-specific effects of additional genetic lesions on survival are largely unknown. Methods: Using Cox proportional hazards regression modeling, we investigated the subtype-specific effects of genetic alterations and clinicopathological factors on survival in each LGG subtype, in a Japanese cohort of LGG cases fully genotyped for driver mutations and copy number variations associated with LGGs (n = 308)...
July 18, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28991511/prevalence-of-congenital-ocular-anomalies-among-children-with-genetic-disorders-an-egyptian-study
#13
Reham H Tomairek, Maha M Amin, Karima Raafat, Sawsan Abdel Hady, Ahmed Elkotoury
PURPOSE: To assess the pattern and frequency of occurrence of ocular anomalies among other genetic disorders in Egypt. METHODS: This is a cross-sectional study of 2500 cases presenting with genetic disorders. Cases were recruited from the clinical genetics department of the National Research Centre (NRC) over a four-year period between January 2011 and December 2014. Ophthalmological examination of the cases was performed in the pediatric ophthalmology department of Cairo University Hospitals...
October 9, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28991226/lsd1-promotes-s-phase-entry-and-tumorigenesis-via-chromatin-co-occupation-with-e2f1-and-selective-h3k9-demethylation
#14
Y He, Y Zhao, L Wang, L R Bohrer, Y Pan, L Wang, H Huang
Histone H3 lysine-9 (H3K9) methylation is essential for retinoblastoma protein (RB)-mediated heterochromatin formation, epigenetic silencing of S-phase genes and permanent cell cycle arrest or cellular senescence. Besides as an H3K4 demethylase, lysine-specific demethylase-1 (LSD1) has been shown to promote H3K9 demethylation. However, it is unexplored whether LSD1 has a causal role in regulating cell cycle entry and senescence. Here we demonstrate that genetic depletion or pharmacological inhibition of LSD1 triggers G1 arrest and cellular senescence...
October 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28971364/genetic-testing-in-pediatric-ophthalmology
#15
REVIEW
Ishwar Chander Verma, Preeti Paliwal, Kanika Singh
The authors review the utility of genetic testing in ophthalmic disorders - precise diagnosis, accurate prognosis, genetic counseling, prenatal diagnosis, and entry into gene-specific therapeutic trials. The prerequisites for a successful outcome of a genetic test are an accurate clinical diagnosis, a careful family history that guides which genes to study, and genetic counseling (both pre-test and post-test). The common eye disorders for which genetic testing is commonly requested are briefly discussed - anophthalmia, microphthalmia, coloboma, anterior segment dysgenesis, corneal dystrophies, cataracts, optic atrophy, congenital glaucoma, congenital amaurosis, retinitis pigmentosa, color blindness, juvenile retinoshisis, retinoblastoma etc...
October 2, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28900468/cancer-of-childhood-in-sub-saharan-africa
#16
REVIEW
Cristina Stefan, Freddie Bray, Jacques Ferlay, Biying Liu, D Maxwell Parkin
Measurement of incidence rates of childhood cancer in Africa is difficult. The study 'Cancer of Childhood in sub Saharan Africa' brings together results from 16 population-based registries which, as members of the African Cancer Registry Network (AFCRN), have been evaluated as achieving adequate coverage of their target population. The cancers are classified according to the third revision of the International Classification of Childhood Cancer (ICCC-3) and recorded rates in Africa are compared with those in childhood populations in the UK, France, and the USA...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28892048/cdkn2b-deletion-is-essential-for-pancreatic-cancer-development-instead-of-unmeaningful-co-deletion-due-to-juxtaposition-to-cdkn2a
#17
Q Tu, J Hao, X Zhou, L Yan, H Dai, B Sun, D Yang, S An, L Lv, B Jiao, C Chen, R Lai, P Shi, X Zhao
Pancreatic cancer is among the deadliest malignancies; however, the genetic events that lead to pancreatic carcinogenesis in adults remain unclear. In vivo models in which these genetic alterations occur in adult animals may more accurately reflect the features of human cancer. In this study, we demonstrate that inactivation of Cdkn2b (p15ink4b) is necessary for induction of pancreatic cancer by oncogenic KRAS(G12D) expression and inactivation of Tp53 and Cdkn2a in adult mouse pancreatic ductal cells (P60 or older)...
September 11, 2017: Oncogene
https://www.readbyqxmd.com/read/28881068/molecular-genetics-of-syndromic-and-non-syndromic-forms-of-parathyroid-carcinoma
#18
REVIEW
Luís Cardoso, Mark Stevenson, Rajesh V Thakker
Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas...
September 7, 2017: Human Mutation
https://www.readbyqxmd.com/read/28865301/misidentified-human-gene-functions-with-mouse-models-the-case-of-the-retinoblastoma-gene-family-in-senescence
#19
Nicola Alessio, Stefania Capasso, Angela Ferone, Giovanni Di Bernardo, Marilena Cipollaro, Fiorina Casale, Gianfranco Peluso, Antonio Giordano, Umberto Galderisi
Although mice models rank among the most widely used tools for understanding human genetics, biology, and diseases, differences between orthologous genes among species as close as mammals are possible, particularly in orthologous gene pairs in which one or more paralogous (i.e., duplicated) genes appear in the genomes of the species. Duplicated genes can possess overlapping functions and compensate for each other. The retinoblastoma gene family demonstrates typical composite functionality in its three member genes (i...
August 30, 2017: Neoplasia: An International Journal for Oncology Research
https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#20
Yacoub A Yousef, Abdelghani Tbakhi, Maysa Al-Hussaini, Ibrahim AlNawaiseh, Ala Saab, Amal Afifi, Maysa Naji, Mona Mohammad, Rasha Deebajah, Imad Jaradat, Iyad Sultan, Mustafa Mehyar
Retinoblastoma (RB) is a childhood cancer developing in the retina due to RB1 pathologic variant. Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. In this prospective study, the peripheral blood of 50 retinoblastoma patients was collected, genomic DNA was extracted, mutations were identified using Quantitative multiplex PCR (QM-PCR), Allele-specific PCR, Next Generation Sequencing analysis, and Sanger sequencing. In this cohort of 50 patients, 20(40%) patients had unilateral RB and 30(60%) were males...
August 12, 2017: Familial Cancer
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