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retinoblastoma genetics

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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/29755733/recent-advancements-in-the-management-of-retinoblastoma-and-uveal-melanoma
#2
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/29737052/retinoblastoma-for-pediatric-ophthalmologists
#3
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
#4
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/29734385/growth-patterns-of-survivors-of-retinoblastoma-treated-with-ophthalmic-artery-chemosurgery
#5
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/29676528/e3-ubiquitin-ligase-rnf123-targets-lamin-b1-and-lamin-binding-proteins
#6
Richa Khanna, Vidhya Krishnamoorthy, Veena K Parnaik
Lamins are key nuclear proteins which are important for maintaining nuclear structure and function. Mutations in lamins cause a spectrum of genetic diseases termed as laminopathies. RING finger containing E3 ubiquitin ligase, RNF123 is transcriptionally upregulated in cells expressing rod-domain lamin A mutations. However, the functional relevance of RNF123 in laminopathic cells is not clear. Using a mass spectrometry based approach, we identified lamins and lamin-binding proteins retinoblastoma protein (pRb), lamina-associated polypeptide 2α (LAP2α) and emerin as RNF123-interacting proteins...
April 20, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29668499/tumor-syndromes-predisposing-to-osteosarcoma
#7
Meera Hameed, Diana Mandelker
Osteosarcoma (OS) is the most common primary bone tumor affecting predominantly adolescents and young adults. It accounts for about 5% of all childhood cancers. Although the majority of OSs are sporadic, a small percentage occur as a component of hereditary cancer syndromes. Early onset, bilateral, multifocal, and metachronous tumors suggest genetic predisposition. The inheritance patterns can be autosomal dominant or recessive. These syndromes predispose to a wide variety of mesenchymal and epithelial cancers with propensity for certain mutations being prevalent in specific cancer subtypes...
April 17, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29662154/parent-of-origin-effect-of-hypomorphic-pathogenic-variants-and-somatic-mosaicism-impact-on-phenotypic-expression-of-retinoblastoma
#8
Valentina Imperatore, Anna Maria Pinto, Elisa Gelli, Eva Trevisson, Valeria Morbidoni, Elisa Frullanti, Theodora Hadjistilianou, Sonia De Francesco, Paolo Toti, Elena Gusson, Gaia Roversi, Andrea Accogli, Valeria Capra, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Retinoblastoma is the most common eye cancer in children. Numerous families have been described displaying reduced penetrance and expressivity. An extensive molecular characterization of seven families led us to characterize the two main mechanisms impacting on phenotypic expression, as follows: (i) mosaicism of amorphic pathogenic variants; and (ii) parent-of-origin-effect of hypomorphic pathogenic variants. Somatic mosaicism for RB1 splicing variants (c.1960+5G>C and c.2106+2T>C), leading to a complete loss of function was demonstrated by high-depth NGS in two families...
April 17, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29610306/autochthonous-tumors-driven-by-rb1-loss-have-an-ongoing-requirement-for-the-rbp2-histone-demethylase
#9
Samuel K McBrayer, Benjamin A Olenchock, Gabriel J DiNatale, Diana D Shi, Januka Khanal, Rebecca B Jennings, Jesse S Novak, Matthew G Oser, Alissa K Robbins, Rebecca Modiste, Dennis Bonal, Javid Moslehi, Roderick T Bronson, Donna Neuberg, Quang-De Nguyen, Sabina Signoretti, Julie-Aurore Losman, William G Kaelin
Inactivation of the retinoblastoma gene ( RB1 ) product, pRB, is common in many human cancers. Targeting downstream effectors of pRB that are central to tumorigenesis is a promising strategy to block the growth of tumors harboring loss-of-function RB1 mutations. One such effector is retinoblastoma-binding protein 2 (RBP2, also called JARID1A or KDM5A), which encodes an H3K4 demethylase. Binding of pRB to RBP2 has been linked to the ability of pRB to promote senescence and differentiation. Importantly, genetic ablation of RBP2 is sufficient to phenocopy pRB's ability to induce these cellular changes in cell culture experiments...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29568217/mutational-screening-of-germline-rb1-gene-in-vietnamese-patients-with-retinoblastoma-reveals-three-novel-mutations
#10
Ha Hai Nguyen, Hoa Thi Thanh Nguyen, Nhung Phuong Vu, Quynh Thuy Le, Chau Minh Pham, Thuong Thi Huyen, Hung Manh, Hang Le Bich Pham, Ton Dang Nguyen, Hien Thi Thu Le, Hai Van Nong
Purpose: Retinoblastoma (Rb) is a rare and unique eye cancer that usually develops in the retinas of children less than 5 years old due to mutations in the RB1 gene. About 40% of affected individuals have the heritable form making genetics testing of the RB1 gene important for disease management. This study aims to identify germline mutations in RB1 in a cohort of patients with Rb from northern Vietnam. Methods: Genomic DNA was extracted from peripheral blood of 34 patients with Rb (nine unilateral and 25 bilateral cases) and their available parents...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29552929/benign-fibromyxoid-lesion-of-the-breast-a-distinct-entity-from-benign-spindle-cell-tumors-of-the-mammary-stroma
#11
Christopher J Schwartz, Cynthia A Schandl, Jennifer Morse, Jonathan Ralston, Amy Rapkiewicz, Farbod Darvishian
Myxoid lesions of the breast can be diagnostically challenging entities. We report 4 cases of CD34+ fibromyxoid lesion that have been previously diagnosed as "benign myxoid lesion," "nodular mucinosis," or "mammary myofibroblastoma, myxoid type" on the basis of CD34-positivity. The lesions were microscopically well circumscribed and composed of a paucicellular spindle cell proliferation in a background of myxoid stroma. No epithelial component was identified. The spindle cells showed immunohistochemical reactivity for CD34 and smooth muscle actin...
March 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29552210/transformation-to-small-cell-lung-cancer-following-treatment-with-icotinib-in-a-patient-with-lung-adenocarcinoma
#12
Hongyang Lu, Bo Chen, Jing Qin, Fajun Xie, Na Han, Zhiyu Huang
The present study describes the case of a 48-year-old man who was diagnosed with lung adenocarcinoma with an epidermal growth factor receptor (EGFR) 21 L858R mutation. The patient received surgery and adjuvant chemotherapy. When multiple lung metastases appeared, icotinib was administered. Following resistance to icotinib, biopsy by endobroncheal ultrasonography for a right lung hilar lymph node revealed transformation to a neuroendocrine morphology. Neuron-specific enolase (NSE) levels were elevated, accompanied with disease progression following transformation to the neuroendocrine morphology...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29541417/metabolic-profiling-of-the-three-neural-derived-embryonal-pediatric-tumors-retinoblastoma-neuroblastoma-and-medulloblastoma-identifies-distinct-metabolic-profiles
#13
Sarah E Kohe, Christopher D Bennett, Simrandip K Gill, Martin Wilson, Carmel McConville, Andrew C Peet
The rare pediatric embryonal tumors retinoblastoma, medulloblastoma and neuroblastoma derive from neuroectodermal tissue and share similar histopathological features despite different anatomical locations and diverse clinical outcomes. As metabolism can reflect genetic and histological features, we investigated whether the metabolism of embryonal tumors reflects their similar histology, shared developmental and neural origins, or tumor location. We undertook metabolic profiling on 50 retinoblastoma, 39 medulloblastoma and 70 neuroblastoma using high resolution magic angle spinning magnetic resonance spectroscopy (1H-MRS)...
February 16, 2018: Oncotarget
https://www.readbyqxmd.com/read/29518772/two-cases-with-ring-chromosome-13-at-either-end-of-the-phenotypic-spectrum
#14
REVIEW
Seda Çakmaklı, Tufan Çankaya, Semra Gürsoy, Altuğ Koç, Özgür Kırbıyık, Özge A Kılıçarslan, Erdener Özer, Derya Erçal, Özlem G Bozkaya
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum...
2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29510820/the-interdisciplinary-diagnosis-and-treatment-of-intraocular-tumors
#15
Norbert Bornfeld, Eva Biewald, Sebastian Bauer, Petra Temming, Dietmar Lohmann, Michael Zeschnigk
BACKGROUND: Recent years have seen major changes in the diagnosis and treatment of solid intraocular tumors, mainly owing to an improved molecular biological understanding of their pathogenesis, new therapeutic approaches for the local treatment of tumors in children, and long-term follow-up observations in clinical trials. METHODS: This review is based on pertinent publications retrieved by a selective search in PubMed. RESULTS: Retinoblastoma is the most common type of primary intraocular tumor, with approximately 8000 new cases per year around the world, while malignant melanoma of the uvea is the most common primary intraocular tumor in adults, with approximately 7000 new cases per year around the world...
February 16, 2018: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/29470311/routine-fundus-screening-of-families-of-children-with-retinoblastoma-a-prospective-study-of-131-consecutive-families
#16
Swathi Kaliki, Shweta Gupta Rathi, Anamika Patel
PURPOSE: To discuss the importance of routine ophthalmic examination of parents and siblings of retinoblastoma (RB) patients. METHODS: Prospective nonrandomized observational/interventional case series of consecutive families of 131 RB patients. RESULTS: Routine ophthalmic examination of families (parents and siblings) of 131 consecutive newly diagnosed RB patients, including 262 parents and 23 siblings, revealed spontaneously regressed RB in at least 1 parent of 10 (8%) patients and active RB in at least 1 sibling of 3 (2%) patients...
February 21, 2018: Retina
https://www.readbyqxmd.com/read/29468553/crispr-cas9-mediated-knockout-of-rb1-in-xenopus-tropicalis
#17
Thomas Naert, Kris Vleminckx
At this time, no molecular targeted therapies exist for treatment of retinoblastoma. This can be, in part, attributed to the lack of animal models that allow for both rapid identification of novel therapeutic targets and hypothesis driven drug testing. Within this scope, we have recently reported the first genuine genetic nonmammalian retinoblastoma cancer model within the aquatic model organism Xenopus tropicalis (Naert et al., Sci Rep 6: 35263, 2016). Here we describe the methods to generate rb1 mosaic mutant Xenopus tropicalis by employing the CRISPR/Cas9 technology...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29468551/detection-of-e2f-induced-transcriptional-activity-using-a-dual-luciferase-reporter-assay
#18
Ainhoa Iglesias-Ara, Nerea Osinalde, Ana M Zubiaga
The E2F transcription factors are key targets for the retinoblastoma (RB) tumor suppressor function. The active or inactive status of RB determines the degree by which E2F-dependent gene expression will occur in a given condition. Changes in transcriptional activity in response to extracellular or intracellular stimuli are frequently measured using genetic reporter assays. In particular, dual luciferase reporter assays are most recommended for this purpose because of their improved experimental accuracy. Here we illustrate the usefulness of the dual luciferase reporter assay to detect E2F-mediated transcriptional activity upon overexpression of E2F1 in cultured cells as readout for RB status and function...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29462129/family-history-of-cancer-and-the-risk-of-childhood-solid-tumours-a-norwegian-nationwide-register-based-cohort-study
#19
Ruby Del Risco Kollerud, Karl Gerhard Blaasaas, Bjørgulf Claussen, Per Nafstad, Lisa A Cannon-Albright, Ellen Ruud, Finn Wesenberg, Øyvind Næss
This corrects the article DOI: 10.1038/bjc.2017.85.
March 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29379195/knowledge-experiences-and-attitudes-concerning-genetics-among-retinoblastoma-survivors-and-parents
#20
Jessica A Hill, Amal Gedleh, Siwon Lee, Kaitlyn A Hougham, Helen Dimaras
Clinical genetic services are increasingly providing a more nuanced understanding of genetic disease diagnostics and future risk for patients. Effectively conveying genetic information is essential for patients to make informed decisions. This is especially important for survivors of heritable cancers such as retinoblastoma (childhood eye cancer), where survivors who carry a germline mutation in the RB1 gene are at increased risk of second cancers in adulthood, and of passing on the disease risk to future offspring...
April 2018: European Journal of Human Genetics: EJHG
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