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retinoblastoma genetics

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https://www.readbyqxmd.com/read/28620731/retinoblastoma
#1
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
#2
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)...
June 12, 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
#3
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
#4
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
#5
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
#6
Brian Hinds, Alfredo Agulló, 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 including single cells with pleomorphic nuclei and scattered giant cells resemble 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
#7
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
#8
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
#9
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...
April 7, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28397259/patient-understanding-of-genetic-information-influences-reproductive-decision-making-in-retinoblastoma
#10
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
Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17-18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing in all cases enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16-45 years were included...
April 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28368972/the-recognition-of-cavitary-retinoblastoma-tumors-implications-for-management-and-genetic-analysis
#11
Shabana Chaudhry, Zerrin Onadim, Mandeep S Sagoo, M Ashwin Reddy
PURPOSE: To assess the role of consolidating adjuvant therapy for cavitary retinoblastoma and to understand if there is any phenotype-genotype correlation. METHODS: Patients with retinoblastomas having ophthalmoscopically visible cavities between 2004 and 2014 in whom 4 to 6 cycles of systemic chemotherapy were given. RESULTS: Eighteen eyes of 17 patients displayed cavitary retinoblastomas. This represented 6.8% of 250 patients. Mean age at diagnosis was 13 months; 5 unilateral (29%) and 12 bilateral (71%)...
March 30, 2017: Retina
https://www.readbyqxmd.com/read/28323486/enterolactone-induces-g1-phase-cell-cycle-arrest-in-nonsmall-cell-lung-cancer-cells-by-downregulating-cyclins-and-cyclin-dependent-kinases
#12
Shireen Chikara, Kaitlin Lindsey, Harsharan Dhillon, Sujan Mamidi, Jeffrey Kittilson, Melpo Christofidou-Solomidou, Katie M Reindl
Flaxseed is a rich source of the plant lignan secoisolariciresinol diglucoside (SDG), which is metabolized into mammalian lignans enterodiol (ED) and enterolactone (EL) in the digestive tract. The anticancer properties of these lignans have been demonstrated for various cancer types, but have not been studied for lung cancer. In this study, we investigated the anticancer effects of EL for several nonsmall cell lung cancer (NSCLC) cell lines of various genetic backgrounds. EL inhibited the growth of A549, H441, and H520 lung cancer cells in concentration- and time-dependent manners...
May 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28320736/arabidopsis-retinoblastoma-related-directly-regulates-dna-damage-responses-through-functions-beyond-cell-cycle-control
#13
Beatrix M Horvath, Hana Kourova, Szilvia Nagy, Edit Nemeth, Zoltan Magyar, Csaba Papdi, Zaki Ahmad, Gabino F Sanchez-Perez, Serena Perilli, Ikram Blilou, Aladár Pettkó-Szandtner, Zsuzsanna Darula, Tamas Meszaros, Pavla Binarova, Laszlo Bogre, Ben Scheres
The rapidly proliferating cells in plant meristems must be protected from genome damage. Here, we show that the regulatory role of the Arabidopsis RETINOBLASTOMA RELATED (RBR) in cell proliferation can be separated from a novel function in safeguarding genome integrity. Upon DNA damage, RBR and its binding partner E2FA are recruited to heterochromatic γH2AX-labelled DNA damage foci in an ATM- and ATR-dependent manner. These γH2AX-labelled DNA lesions are more dispersedly occupied by the conserved repair protein, AtBRCA1, which can also co-localise with RBR foci...
May 2, 2017: EMBO Journal
https://www.readbyqxmd.com/read/28293272/multiple-molecular-interactions-redundantly-contribute-to-rb-mediated-cell-cycle-control
#14
Michael J Thwaites, Matthew J Cecchini, Srikanth Talluri, Daniel T Passos, Jasmyne Carnevale, Frederick A Dick
BACKGROUND: The G1-S phase transition is critical to maintaining proliferative control and preventing carcinogenesis. The retinoblastoma tumor suppressor is a key regulator of this step in the cell cycle. RESULTS: Here we use a structure-function approach to evaluate the contributions of multiple protein interaction surfaces on pRB towards cell cycle regulation. SAOS2 cell cycle arrest assays showed that disruption of three separate binding surfaces were necessary to inhibit pRB-mediated cell cycle control...
2017: Cell Division
https://www.readbyqxmd.com/read/28228136/circulating-tumor-cells-capture-disease-evolution-in-advanced-prostate-cancer
#15
Justin Lack, Marc Gillard, Maggie Cam, Gladell P Paner, David J VanderWeele
BACKGROUND: Genetic analysis of advanced cancer is limited by availability of representative tissue. Biopsies of prostate cancer metastasized to bone are invasive with low quantity of tumor tissue. The prostate cancer genome is dynamic, however, with temporal heterogeneity requiring repeated evaluation as the disease evolves. Circulating tumor cells (CTCs) offer an alternative, "liquid biopsy", though single CTC sequencing efforts are laborious with high failure rates. METHODS: We performed exome sequencing of matched treatment-naïve tumor tissue, castrate resistant tumor tissue, and pooled CTC samples, and compared mutations identified in each...
February 23, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28203301/progress-with-palbociclib-in-breast-cancer-latest-evidence-and-clinical-considerations
#16
REVIEW
Andrea Rocca, Alessio Schirone, Roberta Maltoni, Sara Bravaccini, Lorenzo Cecconetto, Alberto Farolfi, Giuseppe Bronte, Daniele Andreis
Deregulation of the cell cycle is a hallmark of cancer, and research on cell cycle control has allowed identification of potential targets for anticancer treatment. Palbociclib is a selective inhibitor of the cyclin-dependent kinases 4 and 6 (CDK4/6), which are involved, with their coregulatory partners cyclin D, in the G1-S transition. Inhibition of this step halts cell cycle progression in cells in which the involved pathway, including the retinoblastoma protein (Rb) and the E2F family of transcription factors, is functioning, although having been deregulated...
February 2017: Therapeutic Advances in Medical Oncology
https://www.readbyqxmd.com/read/28191765/generation-of-osteosarcomas-from-a-combination-of-rb-silencing-and-c-myc-overexpression-in-human-mesenchymal-stem-cells
#17
Jir-You Wang, Po-Kuei Wu, Paul Chih-Hsueh Chen, Chia-Wen Lee, Wei-Ming Chen, Shih-Chieh Hung
Osteosarcoma (OS) was a malignant tumor occurring with unknown etiology that made prevention and early diagnosis difficult. Mesenchymal stem cells (MSCs), which were found in bone marrow, were claimed to be a possible origin of OS but with little direct evidence. We aimed to characterize OS cells transformed from human MSCs (hMSCs) and identify their association with human primary OS cells and patient survival. Genetic modification with p53 or retinoblastoma (Rb) knockdown and c-Myc or Ras overexpression was applied for hMSC transformation...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28165337/a-mouse-model-of-mycn-driven-retinoblastoma-reveals-mycn-independent-tumor-reemergence
#18
Nan Wu, Deshui Jia, Breanna Bates, Ryan Basom, Charles G Eberhart, David MacPherson
The most frequent focal alterations in human retinoblastoma are mutations in the tumor-suppressor gene retinoblastoma (RB) and amplification of the oncogene MYCN. Whether MYCN overexpression drives retinoblastoma has not been assessed in model systems. Here, we have shown that Rb inactivation collaborates strongly with MYCN overexpression and leads to retinoblastoma in mice. Overexpression of human MYCN in the context of Rb inactivation increased the expression of MYC-, E2F-, and ribosome-related gene sets, promoted excessive proliferation, and led to retinoblastoma with anaplastic changes...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28134624/dosage-dependent-copy-number-gains-in-e2f1-and-e2f3-drive-hepatocellular-carcinoma
#19
Lindsey N Kent, Sooin Bae, Shih-Yin Tsai, Xing Tang, Arunima Srivastava, Christopher Koivisto, Chelsea K Martin, Elisa Ridolfi, Grace C Miller, Sarah M Zorko, Emilia Plevris, Yannis Hadjiyannis, Miguel Perez, Eric Nolan, Raleigh Kladney, Bart Westendorp, Alain de Bruin, Soledad Fernandez, Thomas J Rosol, Kamal S Pohar, James M Pipas, Gustavo Leone
Disruption of the retinoblastoma (RB) tumor suppressor pathway, either through genetic mutation of upstream regulatory components or mutation of RB1 itself, is believed to be a required event in cancer. However, genetic alterations in the RB-regulated E2F family of transcription factors are infrequent, casting doubt on a direct role for E2Fs in driving cancer. In this work, a mutation analysis of human cancer revealed subtle but impactful copy number gains in E2F1 and E2F3 in hepatocellular carcinoma (HCC)...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28106538/a-polymorphism-in-mir-34b-c-as-a-potential-biomarker-for-early-onset-of-hereditary-retinoblastoma
#20
Ivna N S R Carvalho, Adriana H O Reis, Anna C E Dos Santos, Fernando R Vargas
BACKGROUND: Retinoblastoma (RB) is a malignant pediatric tumor and, mainly because of late diagnosis, most patients undergo enucleation. The tumor almost always initiates by two inactivation events at the RB1 gene. Single nucleotide polymorphisms (SNPs) in p53 pathway have been found to represent genetic modifiers of RB. OBJECTIVE: To investigate whether a SNP (rs4938723T > C) in mir-34b/c gene, a key effector of p53, could influence RB risk and patients' age of onset...
2017: Cancer Biomarkers: Section A of Disease Markers
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