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Tert promotor

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https://www.readbyqxmd.com/read/29752851/idh-mutated-astrocytomas-with-19q-loss-constitute-a-subgroup-that-confers-better-prognosis
#1
Ryohei Otani, Takeo Uzuka, Fumi Higuchi, Hadzki Matsuda, Masashi Nomura, Shota Tanaka, Akitake Mukasa, Koichi Ichimura, Phyo Kim, Keisuke Ueki
IDH-mutant gliomas are classified into astrocytic or oligodendroglial tumors by 1p/19q status in WHO 2016 classification, with the latter presenting with characteristic morphology and better prognosis in general. However, the morphological and genetic features within each category are varied, and there may be distinguishable subtypes. We analyzed 170 WHO grade II to IV gliomas resected in our institution. 1p/19q status was analyzed by microsatellite analysis, and genetic mutations were analyzed by next-generation sequencing and Sanger sequencing...
May 12, 2018: Cancer Science
https://www.readbyqxmd.com/read/29620581/coexistence-of-braf-v600e-and-tert-promoter-mutations-in-low-grade-serous-carcinoma-of-ovary-recurring-as-carcinosarcoma-in-a-lymph-node-report-of-a-case
#2
Mahkam Tavallaee, David F Steiner, James L Zehnder, Ann K Folkins, Amer K Karam
Low-grade serous carcinomas only rarely coexist with or progress to high-grade tumors. We present a case of low-grade serous carcinoma with transformation to carcinosarcoma on recurrence in the lymph node. Identical BRAF V600E and telomerase reverse transcriptase promoter mutations were identified in both the original and recurrent tumor. Given that telomerase reverse transcriptase promotor mutations are thought to play a role in progression of other tumor types, the function of telomerase reverse transcriptase mutations in BRAF mutated low-grade serous carcinoma deserves investigation...
April 3, 2018: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/29430506/toward-personalised-liquid-biopsies-for-urothelial-carcinoma-characterisation-of-ddpcr-and-urinary-cfdna-for-the-detection-of-the-tert-228-g-a-t-mutation
#3
Ilaria J Russo, Yongwon Ju, Naheema S Gordon, Maurice P Zeegers, K K Cheng, Nicholas D James, Richard T Bryan, Douglas G Ward
Background: TERT promotor mutations are present in >75% of bladder tumours; these mutations are also detectable in urine. Previous studies have used urinary pellet DNA, and semi-quantitative methods unsuitable for detecting very low mutant allele frequencies. Objective: In this proof-of-principle study we use ddPCR to count the DNA molecules with wt and mutant TERT sequences in urinary cfDNA from patients whose bladder cancers harbour TERT mutations. Methods: Urinary cfDNA prepared from the urine from 104 bladder cancer patients was analysed...
January 20, 2018: Bladder Cancer
https://www.readbyqxmd.com/read/28894890/new-prognostic-factor-telomerase-reverse-transcriptase-promotor-mutation-presents-without-mr-imaging-biomarkers-in-primary-glioblastoma
#4
Tunc F Ersoy, Vera C Keil, Dariusch R Hadizadeh, Gerrit H Gielen, Rolf Fimmers, Andreas Waha, Barbara Heidenreich, Rajiv Kumar, Hans H Schild, Matthias Simon
PURPOSE: Magnetic resonance (MR) imaging biomarkers can assist in the non-invasive assessment of the genetic status in glioblastomas (GBMs). Telomerase reverse transcriptase (TERT) promoter mutations are associated with a negative prognosis. This study was performed to identify MR imaging biomarkers to forecast the TERT mutation status. METHODS: Pre-operative MRIs of 64/67 genetically confirmed primary GBM patients (51/67 TERT-mutated with rs2853669 polymorphism) were analyzed according to Visually AcceSAble Rembrandt Images (VASARI) ( https://wiki...
December 2017: Neuroradiology
https://www.readbyqxmd.com/read/28682619/structure-reactivity-relationships-of-conformationally-armed-disaccharide-donors-and-their-use-in-the-synthesis-of-a-hexasaccharide-related-to-the-capsular-polysaccharide-from-streptococcus-pneumoniae-type-37
#5
Thibault Angles d'Ortoli, Christoffer Hamark, Göran Widmalm
To advance the field of glycobiology, efficient synthesis methods of oligosaccharides and glycoconjugates are a requisite. In glycosylation reactions using superarmed donors, both selectivity and reactivity issues must be considered, and we herein investigate these aspects for differently protected β-linked 2-O-glycosylated glucosyl donors carrying bulky tert-butyldimethylsilyl groups to different extents. The acceptors in reactions being secondary alcohols presents a challenging situation with respect to steric crowding...
July 19, 2017: Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28639280/mutational-profiles-of-brenner-tumors-show-distinctive-features-uncoupling-urothelial-carcinomas-and-ovarian-carcinoma-with-transitional-cell-histology
#6
Nicole Pfarr, Silvia Darb-Esfahani, Jonas Leichsenring, Eliane Taube, Melanie Boxberg, Ioana Braicu, Moritz Jesinghaus, Roland Penzel, Volker Endris, Aurelia Noske, Wilko Weichert, Peter Schirmacher, Carsten Denkert, Albrecht Stenzinger
Brenner tumors (BT) are rare ovarian tumors encompassing benign, borderline, and malignant variants. While the histopathology of BTs and their clinical course is well described, little is known about the underlying genetic defects. We employed targeted next generation sequencing to analyze the mutational landscape in a cohort of 23 BT cases (17 benign, 2 borderline, and 4 malignant) and 3 ovarian carcinomas with transitional cell histology (TCC). Copy number variations (CNV) were validated by fluorescence in-situ hybridization (FISH) and quantitative PCR-based copy number assays...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28489587/ngs-based-identification-of-mutational-hotspots-for-targeted-therapy-in-anaplastic-thyroid-carcinoma
#7
Vera Tiedje, Saskia Ting, Thomas Herold, Sarah Synoracki, Soeren Latteyer, Lars C Moeller, Denise Zwanziger, Martin Stuschke, Dagmar Fuehrer, Kurt Werner Schmid
CONTEXT: Anaplastic thyroid carcinoma (ATC) represents one of the most aggressive carcinomas with no consistent survival benefit when treated with conventional radiochemotherapy. Approaches targeting "oncogene addiction" of ATC are increasingly explored and first promising results have been reported in single case studies. OBJECTIVE: To determine the prevalence of mutations in known thyroid oncogenes and signalling pathways amendable to targeted therapy in a large cohort of ATC...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/27313781/tert-core-promotor-mutations-in-early-onset-bladder-cancer
#8
Johannes Giedl, Anja Rogler, Andreas Wild, Marc-Oliver Riener, Thomas Filbeck, Maximilian Burger, Petra Rümmele, Carolyn Hurst, Margaret Knowles, Arndt Hartmann, Ulrike Zinnall, Robert Stoehr
Activating mutations in the core promoter of the TERT gene have been described in many different tumor entities. In vitro models showed a two- to fourfold increase in transcriptional activity of the TERT promoter through creation of a consensus binding motif for Ets/TCF transcription factors caused by these mutations. TERT core promoter mutations are the most common mutations in bladder cancer with a frequency between 55.6% and 82.8% described so far, and are independent of stage and grade. Since limited data on molecular alterations of early-onset bladder tumors exists, we assessed the frequency of TERT core promoter mutations in early-onset bladder cancer...
2016: Journal of Cancer
https://www.readbyqxmd.com/read/27004972/mucosal-malignant-melanoma-a-clinical-oncological-pathological-and-genetic-survey
#9
Lauge H Mikkelsen, Ann-Cathrine Larsen, Christian von Buchwald, Krzysztof T Drzewiecki, Jan U Prause, Steffen Heegaard
Mucosal melanomas constitute 1.3% of all melanomas and they may develop in any mucosal membrane. Conjunctival melanomas (0.5/million/year) and melanomas in the sinonasal cavity (0.5/million/year) are the most common, followed by anorectal melanomas (0.4/million/year) and melanomas in the oral cavity (0.2/million/year). Anorectal melanoma occurs slightly more often in females, whereas oral melanoma has a male predilection. Mucosal melanoma most commonly develops in a patient's sixth or seventh decade of life, and no differences between races have been found except for sinonasal melanoma and conjunctival melanoma, which are very rare in Black people...
June 2016: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/26143636/tert-promoter-mutations-and-polymorphisms-as-prognostic-factors-in-primary-glioblastoma
#10
Mohamed Ali Mosrati, Annika Malmström, Malgorzata Lysiak, Adam Krysztofiak, Martin Hallbeck, Peter Milos, Anna-Lotta Hallbeck, Charlotte Bratthäll, Michael Strandéus, Marie Stenmark-Askmalm, Peter Söderkvist
Telomerase reverse transcriptase (TERT) activity is up-regulated in several types of tumors including glioblastoma (GBM). In the present study, 128 primary glioblastoma patients were examined for single nucleotide polymorphisms of TERT in blood and in 92 cases for TERT promoter mutations in tumors. TERT promoter mutations were observed in 86% of the tumors and of these, C228T (-124 bp upstream start codon) was detected in 75% and C250T (-146 bp) in 25% of cases. TERT promoter mutations were associated with shorter overall survival (11 vs...
June 30, 2015: Oncotarget
https://www.readbyqxmd.com/read/25035100/tert-promoter-mutations-and-braf-mutations-are-rare-in-sporadic-and-tert-promoter-mutations-are-absent-in-nf1-related-malignant-peripheral-nerve-sheath-tumors
#11
Hendrikus J Dubbink, Hannah Bakels, Edward Post, Ellen C Zwarthoff, Robert M Verdijk
Hot spot mutations in the promoter region of telomerase reverse transcriptase (TERT promoter mutations) occur frequently in tumors of neuroectodermal origin such as melanoma and glioma. Many of these tumors are of neuroectodermal or ectomesenchymal origin which is suggestive of TERT promoter mutations playing a role in the development of malignant peripheral nerve sheath tumors (MPNSTs). In melanoma a correlation has been suggested between the occurrence of TERT promoter mutations and v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) mutations...
November 2014: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/7713951/studies-on-the-tumor-promoting-activity-of-additives-in-biomaterials-inhibition-of-metabolic-cooperation-by-phenolic-antioxidants-involved-in-rubber-materials
#12
T Tsuchiya, K Fukuhara, H Hata, Y Ikarashi, N Miyata, F Katoh, H Yamasaki, A Nakamura
For the detection of tumor-promoting activities of phenolic antioxidants, the inhibitory activities on the intercellular gap-junctional communication were investigated using the V79 metabolic cooperation (MC) assay. Among eight antioxidants, 4,4'-butylidene-bis(3-methyl-6-tert-butyl-phenol), 2,2'-methylene-bis(4-methyl-6-tert-butylphenol) (MBMBP), and styrenated phenol (SP) showed stronger inhibitory activities than lithocholic acid, which is known to be a tumor promotor. However, 4,4'-thio-bis(3-methyl-6-tert-butylphenol), Irganox 1010, and 1330 did not inhibit at any concentrations...
January 1995: Journal of Biomedical Materials Research
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