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Retinoblastoma

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https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#1
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29778569/mevalonate-pathway-blockage-enhances-the-efficacy-of-mtor-inhibitors-with-the-activation-of-retinoblastoma-protein-in-renal-cell-carcinoma
#2
Nobuhisa Hagiwara, Motoki Watanabe, Mahiro Iizuka-Ohashi, Isao Yokota, Seijiro Toriyama, Mamiko Sukeno, Mitsuhiro Tomosugi, Yoshihiro Sowa, Fumiya Hongo, Kazuya Mikami, Jintetsu Soh, Akira Fujito, Hiroaki Miyashita, Yukako Morioka, Tsuneharu Miki, Osamu Ukimura, Toshiyuki Sakai
Renal cell carcinoma (RCC) is the most common malignancy of kidney and remains largely intractable once it recurs after resection. mTOR inhibitors have been one of the mainstays used against recurrent RCC; however, there has been a major problem of the resistance to mTOR inhibitors, and thus new combination treatments with mTOR inhibitors are required. We here retrospectively showed that regular use of antilipidemic drug statins could provide a longer progression free survival (PFS) in RCC patients prescribed with an mTOR inhibitor everolimus than without statins (median PFS, 7...
May 17, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29778422/sp1-induced-upregulation-of-lncrna-pandar-predicts-adverse-phenotypes-in-retinoblastoma-and-regulates-cell-growth-and-apoptosis-in-vitro-and-in-vivo
#3
Lijie Sheng, Jing Wu, Xuewu Gong, Duo Dong, Xiaoxue Sun
Retinoblastoma (RB) is an intraocular malignancy for children and has a high mortality rate. Long non-coding RNAs (lncRNAs) are emerging as gene regulators and biomarkers in various malignancies. PANDAR is a novel cancer-related lncRNA that dysregulated in several types of cancers. However, its clinical value and potential effects on RB remains unclear. RT-qPCR was used to assess the relative expression of PANDAR in RB tissues and cells. Additionally, chromatin immunoprecipitation (ChIP) and luciferase reporter assays were performed to investigate whether SP1 could bind to the promoter region of PANDAR and activate its transcription...
May 17, 2018: Gene
https://www.readbyqxmd.com/read/29777315/the-mdm2-rs937283-a-g-variant-significantly-increases-the-risk-of-lung-and-gastric-cancer-in-chinese-population
#4
Bifeng Chen, Jieling Wang, Yucan Chen, Xiuli Gu, Xianhong Feng
BACKGROUND: Currently, the MDM2 promoter rs937283 A > G variant that is able to alter MDM2 gene expression has been widely studied to explore the association of MDM2 with cancer risk. In this report, we investigate the association of MDM2 rs937283 A > G variant with risk of lung cancer (LC) and gastric cancer (GC) in a Chinese population of Hubei province, which was followed by a meta-analysis. METHODS: The genotyping of rs937283 was performed by polymerase chain reaction-restriction fragment length polymorphism and confirmed by sequencing...
May 18, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29765949/a-20-year-retrospective-review-of-retinoblastoma-at-two-tertiary-academic-hospitals-in-johannesburg-south-africa
#5
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
https://www.readbyqxmd.com/read/29765946/radiation-retinopathy-47-years-following-brachytherapy-for-retinoblastoma
#6
Claudine Bellerive, Arun D Singh
A 50-year-old female who had undergone enucleation in the left eye and brachytherapy in the right eye for retinoblastoma at the age of 2 years was diagnosed with nonproliferation radiation retinopathy 47 years following the initial treatment. The patient had noticed black spots in her vision (scotomas) that interfered with reading. New onset of microaneurysms and lipid exudation threatening the foveola was noted on examination of the right eye. Initial visual acuity (VA) was 20/25. Optical coherence tomography showed no evidence of macular edema, but parafoveal lipid exudation was present...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29765942/malpractice-litigation-in-ocular-oncology
#7
Stephanie B Engelhard, Mary E Aronow, Christopher T Shah, Austin J Sim, Ashvini K Reddy
Aims: The aim of this study was to report and analyze the causes and outcomes of ocular oncology malpractice litigation. Methods: The WestLaw® database was reviewed for all litigation related to ophthalmology in the United States from 1930 to 2014. All ocular oncology cases were included in this analysis and compared to other ophthalmic subspecialties. Results: Sixteen ocular oncology malpractice cases were included in this study. Overall, 56...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29763719/small-cell-carcinoma-of-the-urinary-bladder-a-clinicopathologic-and-immunohistochemical-analysis-of-81-cases
#8
Gang Wang, Li Xiao, Miao Zhang, Ashish M Kamat, Arlene Siefker-Radtke, Colin P Dinney, Bogdan Czerniak, Charles C Guo
Small cell carcinoma (SmCC) of the bladder is a rare disease. We retrospectively studied a large series of bladder SmCC from a single institution. The patients included 69 men and 12 women with a mean age of 68years. Most bladder SmCC were presented at advanced stage with tumors invading the muscularis propria and beyond (n=77). SmCC was pure in 27 cases and mixed with other histologic types in 54 cases, including urothelial carcinoma (UC) (n=32), UC in situ (n=26), glandular (n=14), micropapillary (n=4), sarcomatoid (n=4), and squamous (n=3), and plasmacytoid (n=1) features...
May 12, 2018: Human Pathology
https://www.readbyqxmd.com/read/29758594/phox2b-is-a-reliable-immunomarker-in-distinguishing-peripheral-neuroblastic-tumors-from-cns-embryonal-tumors
#9
Sanda Alexandrescu, Vera Paulson, Adrian Dubuc, Azra Ligon, Hart G Lidov
INTRODUCTION: The PHOX2B gene regulates neuronal maturation in the brain stem nuclei associated with cardiorespiratory function, and in the autonomic sympathetic and enteric nervous system. PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumors, however no systematic evaluation of CNS embryonal tumors was included in the studies. We encountered two cases in which the differential diagnosis included neuroblastoma and CNS embryonal tumor, and we hypothesized that PHOX2B immunostain would be helpful establishing the diagnosis...
May 14, 2018: Histopathology
https://www.readbyqxmd.com/read/29755733/recent-advancements-in-the-management-of-retinoblastoma-and-uveal-melanoma
#10
REVIEW
Amy C Schefler, Ryan S Kim
Retinoblastoma and uveal melanoma are the most common intraocular malignancies observed in pediatric and adult populations, respectively. For retinoblastoma, intra-arterial chemotherapy has dramatically improved treatment outcomes and eye salvage rates compared with traditional salvage rates of systemic chemotherapy and external beam radiation therapy. Intravitreal injections of chemotherapy have also demonstrated excellent efficacy for vitreous seeds. Uveal melanoma, on the other hand, is treated predominantly with iodine-125 plaque brachytherapy or with proton beam therapy...
2018: F1000Research
https://www.readbyqxmd.com/read/29750576/suv39h1-dnmt3a-dependent-methylation-of-the-rb1-promoter-stimulates-pin1-expression-and-melanoma-development
#11
Garam Kim, Jin-Young Kim, Sung-Chul Lim, Kwang Youl Lee, Okyun Kim, Hong Seok Choi
Melanoma is among the most aggressive and treatment-resistant human cancers. Aberrant histone H3 methylation at Lys 9 (H3K9) correlates with carcinogenic gene silencing, but the significance of suppressor of variegation 3-9 homolog 1 (SUV39H1), an H3K9-specific methyltransferase, in melanoma initiation and progression remains unclear. Here, we show that SUV39H1-mediated H3K9 trimethylation facilitates retinoblastoma ( RB) 1 promoter CpG island methylation by interacting with DNA methyltransferase 3A and decreasing RB mRNA and protein in melanoma cells...
May 11, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29749457/downregulation-of-microrna%C3%A2-198-suppresses-cell-proliferation-and-invasion-in-retinoblastoma-by-directly-targeting-pten
#12
Dongdong Wei, Yingbin Miao, Lianxia Yu, Degong Wang, Yingli Wang
A number of studies have highlighted that aberrantly expressed microRNAs (miRNAs/miRs) serve crucial roles in the tumorigenesis and tumor development of retinoblastoma (RB). Hence, a full investigation of the biological roles and regulatory mechanisms of miRNAs in RB may provide novel therapeutic targets for patients with this malignancy. miR‑198 is frequently abnormally expressed in various types of human cancers. However, the expression level, biological roles and underlying mechanisms of miR‑198 in RB remain to be elucidated...
May 7, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29744877/long-noncoding-rna-dancr-aggravates-retinoblastoma-through-mir-34c-and-mir-613-by-targeting-mmp-9
#13
Jing-Xian Wang, Yuan Yang, Kun Li
Long non-coding RNAs (lncRNAs) have been identified to play vital roles in cancers, including human retinoblastoma (RB). However, the deepgoing mechanism is still ambiguous. In present study, we investigate the biological role of lncRNA DANCR (differentiation antagonizing non-protein coding RNA) in carcinogenesis of RB. Results revealed that DANCR was up-regulated in RB tissue and cell lines. Moreover, the ectopic overexpression of DANCR indicated poor overall survivals and disease free survival (DFS) for RB patients...
May 10, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29742327/membrane-proteome-of-invasive-retinoblastoma-differential-proteins-and-biomarkers
#14
Ravikanth Danda, Kalaivani Ganapathy, Gajanan Sathe, Anil K Madugundu, Uma Maheswari Krishnan, Vikas Khetan, Pukhraj Rishi, Harsha Gowda, Akhilesh Pandey, Krishnakumar Subramanian, Ts Keshava Prasad, Sailaja V Elchuri
PURPOSE: Retinoblastoma (RB) is a pediatric ocular cancer which is caused due to the aberrations in the RB1 gene. The changes in the membrane proteomics would help in understanding the development of the retinoblastoma and could identify candidates for biomarkers and therapy. EXPERIMENTAL DESIGN: We performed quantitative proteomics on the enriched membrane fractions from pooled normal retina (n = 5) and pooled retinoblastoma tissues (n = 5). The proteins were tryptic digested and tagged with iTRAQ labels...
May 9, 2018: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/29739788/mapk-reliance-via-acquired-cdk4-6-inhibitor-resistance-in-cancer
#15
Renee de Leeuw, Christopher McNair, Matthew J Schiewer, Neermala P Neupane, Lucas J Brand, Michael A Augello, Zhen Li, Larry C Cheng, Akihiro Yoshida, Sean M Courtney, Starr Hazard, Gerald Hardiman, Maha Hussain, J Alan Diehl, Justin M Drake, William K Kelly, Karen E Knudsen
PURPOSE: Loss of cell cycle control is a hallmark of cancer, which can be targeted with agents, including Cyclin Dependent Kinase-4/6 (CDK4/6) kinase inhibitors that impinge upon the G1-S cell cycle checkpoint via maintaining activity of the retinoblastoma tumor suppressor (RB). This class of drugs is under clinical investigation for various solid tumor types, and has recently been FDA-approved for treatment of breast cancer. However, development of therapeutic resistance is not uncommon...
May 8, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29737052/retinoblastoma-for-pediatric-ophthalmologists
#16
Alaa AlAli, Stephanie Kletke, Brenda Gallie, Wai-Ching Lam
Retinoblastoma can present in 1 or both eyes and is the most common intraocular malignancy in childhood. It is typically initiated by biallelic mutation of the RB1 tumor suppressor gene, leading to malignant transformation of primitive retinal cells. The most common presentation is leukocoria, followed by strabismus. Heritable retinoblastoma accounts for 45% of all cases, with 80% being bilateral. Treatment and prognosis of retinoblastoma is dictated by the disease stage at initial presentation. The 8th Edition American Joint Committee on Cancer (AJCC) TNMH (tumor, node, metastasis, heritable trait) staging system defines evidence-based clinical and pathological staging for overall prognosis for eye(s) and child...
May 8, 2018: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/29736261/choroidal-infarction-following-ophthalmic-artery-chemotherapy
#17
Kelley J Bohm, Y Pierre Gobin, Jasmine H Francis, Gabrielle McInerney, Anahita Dabo-Trubelja, Paul H Dalecki, Brian P Marr, David H Abramson
Background: Methylenetetrahydrofolate reductase (MTHFR) genetic mutations and intra-procedural inhaled nitrous oxide (N2 O) independently increase blood levels of homocysteine, a compound associated with thrombosis. Patients with MTHFR mutations who also receive N2 O during ophthalmic artery chemotherapy (OAC) for retinoblastoma may have a heightened thrombotic risk. Case presentations: Single-center retrospective review of pediatric patients with advanced retinoblastoma who received OAC and developed choroidal infarcts...
2018: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29735403/proteins-of-the-retinoblastoma-pathway-fen1-and-mgmt-are-novel-potential-prognostic-biomarkers-in-pancreatic-adenocarcinoma
#18
Joel Isohookana, Kirsi-Maria Haapasaari, Ylermi Soini, Joni Leppänen, Peeter Karihtala
BACKGROUND: We studied the expression of some major proteins involved in cell-cycle regulation and DNA repair, the roles of which are not well known in pancreatic ductal adenocarcinoma (PDAC), but which have a significant impact on carcinogenesis of many other cancers. METHODS: We immunohistochemically assessed expression levels of the cell-cycle regulators Rb1, p16 and cyclin-dependent kinase 4 (CDK4), and the DNA repair enzymes O6-methylguanine-DNA-alkyltransferase (MGMT) and flap endonuclease-1 (FEN1) separately in malignant tissue and benign tissue from resection margins in 102 cases of PDAC...
May 1, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29734385/growth-patterns-of-survivors-of-retinoblastoma-treated-with-ophthalmic-artery-chemosurgery
#19
Sruti S Akella, Jasmine H Francis, Andrea Knezevic, Irina Ostrovnaya, Y Pierre Gobin, Danielle Friedman, Edith Guarini, Lindsey Eibeler, Federica Catalanotti, David H Abramson
Although studies from pediatric cancers (largely acute lymphoblastic leukemia) have shown that patients undergoing systemic chemotherapy may experience decreased growth velocity during the treatment phase, no such data exist for retinoblastoma patients treated with systemic chemotherapy or ophthalmic artery chemosurgery (OAC). The purpose of this study is to report growth patterns of our retinoblastoma (Rb) population who were treated with OAC in a retrospective, single center (Memorial Sloan Kettering Cancer Center) review of 341 patients treated between 2006 and 2016...
2018: PloS One
https://www.readbyqxmd.com/read/29734353/knockdown-of-cdk2ap1-in-human-embryonic-stem-cells-reduces-the-threshold-of-differentiation
#20
Khaled N Alsayegh, Steven D Sheridan, Shilpa Iyer, Raj Raghavendra Rao
Recent studies have suggested a role for the Cyclin Dependent Kinase-2 Associated Protein 1 (CDK2AP1) in stem cell differentiation and self-renewal. In studies with mouse embryonic stem cells (mESCs) derived from generated mice embryos with targeted deletion of the Cdk2ap1 gene, CDK2AP1 was shown to be required for epigenetic silencing of Oct4 during differentiation, with deletion resulting in persistent self-renewal and reduced differentiation potential. Differentiation capacity was restored in these cells following the introduction of a non-phosphorylatible form of the retinoblastoma protein (pRb) or exogenous Cdk2ap1...
2018: PloS One
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