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retinoblastoma genetics

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https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#1
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
https://www.readbyqxmd.com/read/28798814/editorial-childhood-cancer-in-sub-saharan-africa
#2
EDITORIAL
Donald Maxwell Parkin, Cristina Stefan
Measurement of incidence rates of childhood cancer in Africa is difficult. The study 'Cancer of Childhood in sub Saharan Africa' [Stefan C, Bray F, Ferlay J, Parkin DM and Liu B (2017) Cancer of Childhood in sub-Saharan Africaecancer11(755)] 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/28798812/clinical-epidemiological-and-therapeutic-profile-of-patients-with-a-retinoblastoma-diagnosis-experience-in-the-costa-rica-national-children-s-hospital-oncology-unit-from-january-2009-to-december-2015
#3
Jennie Chen Lo, Carlos Rodríguez, Rigoberto Monestel, Arnoldo Zúñiga
INTRODUCTION: Retinoblastoma represents only 3% of paediatric cancers, but it is the most prevalent intraocular tumour in this population. It develops in the retina as a primitive neuroectodermal tumour that affects development during gestation. The tumour presents in two different forms depending on whether or not it expresses a genetic modification. For patients diagnosed at preschool age, 75% are unilateral non-hereditary cases. While enucleation is the preferred treatment for advanced stages of the tumour, other modalities, such as systemic and intraocular chemotherapy, radiotherapy and local treatments with thermotherapy, cryotherapy, and brachytherapy can be used to try to preserve the eye...
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28780672/defective-splicing-of-the-rb1-transcript-is-the-dominant-cause-of-retinoblastomas
#4
Kamil J Cygan, Rachel Soemedi, Christy L Rhine, Abraham Profeta, Eileen L Murphy, Michael F Murray, William G Fairbrother
Defective splicing is a common cause of genetic diseases. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations with most mapping to the critical GT or AG nucleotides within the 5' and 3' splice sites. However, splicing mutations are underreported and the fraction of splicing mutations that compose all disease alleles varies greatly across disease gene. For example, there is a great excess (46%; ~threefold) of hereditary disease alleles that map to splice sites in RB1 that cause retinoblastoma...
August 5, 2017: Human Genetics
https://www.readbyqxmd.com/read/28763932/-the-progress-and-prospect-of-application-of-genetic-testing-technology-based-gene-detection-technology-in-the-diagnosis-and-treatment-of-hereditary-cancer
#5
J X He, Y F Jiang
Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors...
August 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28748347/molecular-basis-of-pediatric-brain-tumors
#6
REVIEW
Alexia Klonou, Christina Piperi, Antonios N Gargalionis, Athanasios G Papavassiliou
Brain tumors emerge as the second commonest type of pediatric solid tumors following hematologic malignancies. Genomic profiling of low- and high-grade gliomas, ependymomas and medulloblastomas has revealed chromosomal abnormalities and specific gene mutations which have been associated with aberrant activation of crucial signal transduction pathways, including mitogen-activated protein kinase, mammalian target of rapamycin and retinoblastoma tumor suppressor signaling. Furthermore, pediatric high-grade gliomas are associated with chromatin remodeling defects and somatic histone gene mutations that affect prognosis...
July 26, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28711224/the-radioprotector-ortho-phospho-l-tyrosine-ptyr-attenuates-the-side-effects-of-fractionated-irradiation-in-retinoblastoma-mouse-models-but-also-decreases-the-local-tumour-control
#7
Alexander V Tschulakow, Klaus Dittmann, Stephan M Huber, Dominik Klumpp, Benjamin Stegen, Ulrich Schraermeyer, H Peter Rodemann, Sylvie Julien-Schraermeyer
BACKGROUND: Radiotherapy (RT) is used to treat retinoblastoma (Rb), the most frequent ocular tumour in children. Besides eradicating the tumour, RT can cause severe side effects including secondary malignancies. This study aimed to define whether the radioprotector ortho-phospho-L-tyrosine (pTyr) prevents RT-induced side effects and affects local tumour control in a xenograft and a genetic orthotopic Rb mouse model. METHODS: B6;129-Rb1tm3Tyj/J (Rb(+/-)) and Y79-Rb cell-xenografted nude mice were fractionated external beam irradiated (15 fractions of 5Gy 6MV photons during 3weeks) with or without pTyr pre-treatment (100mg/kg BW, 16h prior to each irradiation)...
July 12, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28695165/neonatal-retinoblastoma
#8
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
https://www.readbyqxmd.com/read/28674118/retinoblastoma-and-neuroblastoma-predisposition-and-surveillance
#9
REVIEW
Junne Kamihara, Franck Bourdeaut, William D Foulkes, Jan J Molenaar, Yaël P Mossé, Akira Nakagawara, Andreu Parareda, Sarah R Scollon, Kami Wolfe Schneider, Alison H Skalet, Lisa J States, Michael F Walsh, Lisa R Diller, Garrett M Brodeur
Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Approximately 40% of retinoblastomas are hereditary and due to germline mutations in the RB1 gene. Children with hereditary RB are also at risk for developing a midline intracranial tumor, most commonly pineoblastoma. We recommend intensive ocular screening for patients with germline RB1 mutations for retinoblastoma as well as neuroimaging for pineoblastoma surveillance. There is an approximately 20% risk of developing second primary cancers among individuals with hereditary RB, higher among those who received radiotherapy for their primary RB tumors...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28670298/in-vitro-differentiation-of-preosteoblast-like-cells-mc3t3-e1-to-adipocytes-is-enhanced-by-1-25-oh-2-vitamin-d3
#10
Elisha Pendleton, Nalini Chandar
Osteoblasts and adipocytes originate from common mesenchymal progenitor cells and are controlled by specific transcription factors. While 1,25-dihydroxyvitamin D3 (vitamin D) is known to be an important factor for osteoblast differentiation, there are conflicting reports regarding its effect on adipogenesis. In this study, we attempted to understand the effect of exposure of preosteoblasts (MC3T3-E1) to adipogenic media with and without vitamin D and determined the expression of adipogenic genes during this process...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28620731/retinoblastoma
#11
Raksha Rao, Santosh G Honavar
Retinoblastoma represents 3% of all childhood cancers, and is the most common intraocular malignancy of childhood. It is fatal, if untreated. White eye reflex, also known as leukocoria, is the commonest sign, followed by strabismus. The pediatricians have a very important role to play in the diagnosis of this relatively rare, but easily detectable tumor. Early diagnosis yields better results. The management of retinoblastoma has gradually evolved over the past few decades, with an aim to not only preserve life and eye, but also optimize residual vision...
June 16, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28606997/hpv-e7-induces-chemotherapy-mediated-tumor-suppression-by-ceramide-dependent-mitophagy
#12
Raquela J Thomas, Natalia Oleinik, Shanmugam Panneer Selvam, Silvia G Vaena, Mohammed Dany, Rose N Nganga, Ryan Depalma, Kyla D Baron, Jisun Kim, Zdzislaw M Szulc, Besim Ogretmen
Human papillomavirus (HPV) infection is linked to improved survival in response to chemo-radiotherapy for patients with oropharynx head and neck squamous cell carcinoma (HNSCC). However, mechanisms involved in increased HNSCC cell death by HPV signaling in response to therapy are largely unknown. Here, using molecular, pharmacologic and genetic tools, we show that HPV early protein 7 (E7) enhances ceramide-mediated lethal mitophagy in response to chemotherapy-induced cellular stress in HPV-positive HNSCC cells by selectively targeting retinoblastoma protein (RB)...
August 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28590426/down-s-syndrome-and-triple-negative-breast-cancer-a-rare-occurrence-of-distinctive-clinical-relationship
#13
Nandini Dey, Amy Krie, Jessica Klein, Kirstin Williams, Amanda McMillan, Rachel Elsey, Yuliang Sun, Casey Williams, Pradip De, Brian Leyland-Jones
Down's syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H...
June 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28575107/mutation-spectrum-of-rb1-mutations-in-retinoblastoma-cases-from-singapore-with-implications-for-genetic-management-and-counselling
#14
Swati Tomar, Raman Sethi, Gangadhara Sundar, Thuan Chong Quah, Boon Long Quah, Poh San Lai
Retinoblastoma (RB) is a rare childhood malignant disorder caused by the biallelic inactivation of RB1 gene. Early diagnosis and identification of carriers of heritable RB1 mutations can improve disease outcome and management. In this study, mutational analysis was conducted on fifty-nine matched tumor and peripheral blood samples from 18 bilateral and 41 unilateral unrelated RB cases by a combinatorial approach of Multiplex Ligation-dependent Probe Amplification (MLPA) assay, deletion screening, direct sequencing, copy number gene dosage analysis and methylation assays...
2017: PloS One
https://www.readbyqxmd.com/read/28546131/lipoblasts-in-spindle-cell-and-pleomorphic-lipomas-a-close-scrutiny
#15
Michael Michal, Dmitry V Kazakov, Ladislav Hadravsky, Kvetoslava Michalova, Petr Grossmann, Petr Steiner, Tomas Vanecek, Valentina Renda, Saul Suster, Michal Michal
The presence and frequency of lipoblasts (LPB) in spindle cell lipomas (SCL) and pleomorphic lipomas (PL) has never been studied in detail on histologically, immunohistochemically and molecular genetically validated set of tumors. The authors investigated this feature by reviewing 91 cases of SCL and 38 PL. When more than three unequivocal LPB were found, the case was regarded as positive for the presence of LPB. All positive cases were then stained with CD34 and Retinoblastoma (Rb) protein antibodies and tested by FISH for MDM2 and CDK4 amplifications and the FUS gene rearrangements...
May 22, 2017: Human Pathology
https://www.readbyqxmd.com/read/28543636/loss-of-retinoblastoma-in-pleomorphic-fibroma-an-immunohistochemical-and-genomic-analysis
#16
Brian Hinds, Alfredo D Agulló Pérez, Philip E LeBoit, Timothy H McCalmont, Jeffrey P North
BACKGROUND: Pleomorphic fibroma is a curious neoplasm that exhibits striking cytologic atypia, yet behaves in benign fashion. The cytologic features include single cells with pleomorphic nuclei and scattered giant cells resembling the neoplastic cells of pleomorphic lipoma, a tumor with known retinoblastoma (Rb) loss. METHODS: We assessed the demographic and histopathologic features of a cohort of 26 pleomorphic fibromas, including assessment with immunostaining for Rb, p16 and Ki-67...
May 23, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28473212/hepatocellular-adenoma-in-a-european-flatfish-limanda-limanda-genetic-alterations-in-laser-capture-micro-dissected-tissue-and-global-transcriptomic-approach
#17
Adélaïde Lerebours, Emma Chapman, Brett P Lyons, John P Bignell, Grant D Stentiford, Jeanette M Rotchell
Liver tumours in flatfish have been diagnosed using histopathology for decades to monitor the impacts of marine pollution. Here we describe the application of specific gene (retinoblastoma, Rb) profiling in laser capture micro-dissected samples, and a suppression subtractive hybridization (SSH) approach to isolate differentially expressed genes in hepatocellular adenoma (HCA) samples from dab, Limanda limanda. The Rb profiles from apparently normal and HCA micro-dissected samples of fish from the North Sea showed no significant difference, and genotypic heterogeneity within defined histological phenotypes was observed...
May 1, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28399338/genetics-and-molecular-diagnostics-in-retinoblastoma-an-update
#18
Sameh E Soliman, Hilary Racher, Chengyue Zhang, Heather MacDonald, Brenda L Gallie
Retinoblastoma is the prototype genetic cancer: in one or both eyes of young children, most retinoblastomas are initiated by biallelic mutation of the retinoblastoma tumor suppressor gene, RB1, in a developing retinal cell. All those with bilateral retinoblastoma have heritable cancer, although 95% have not inherited the RB1 mutation. Non-heritable retinoblastoma is always unilateral, with 98% caused by loss of both RB1 alleles from the tumor, whereas 2% have normal RB1 in tumors initiated by amplification of the MYCN oncogene...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28398584/genomic-profiles-of-low-grade-murine-gliomas-evolve-during-progression-to-glioblastoma
#19
Mark Vitucci, David M Irvin, Robert S McNeill, Ralf S Schmid, Jeremy M Simon, Harshil D Dhruv, Marni B Siegel, Andrea M Werneke, Ryan E Bash, Seungchan Kim, Michael E Berens, C Ryan Miller
Background: Gliomas are diverse neoplasms with multiple molecular subtypes. How tumor-initiating mutations relate to molecular subtypes as these tumors evolve during malignant progression remains unclear. Methods: We used genetically engineered mouse models, histopathology, genetic lineage tracing, expression profiling, and copy number analyses to examine how genomic tumor diversity evolves during the course of malignant progression from low- to high-grade disease...
September 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28397259/patient-understanding-of-genetic-information-influences-reproductive-decision-making-in-retinoblastoma
#20
A Foster, L Boyes, L Burgess, S Carless, V Bowyer, H Jenkinson, M Parulekar, J Ainsworth, J Hungerford, Z Onadim, M Sagoo, E Rosser, M A Reddy, T Cole
BACKGROUND: Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17% to 18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. MATERIAL AND METHODS: We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma...
April 11, 2017: Clinical Genetics
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