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Uveal melanoma

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https://www.readbyqxmd.com/read/29778526/rt-qpcr-analysis-of-human-melanoma-progression-related-genes-a-novel-workflow-for-selection-and-validation-of-candidate-reference-genes
#1
Marcelina E Janik, Sabina Szwed, Paweł Grzmil, Radosław Kaczmarek, Marcin Czerwiński, Dorota Hoja-Łukowicz
The objective of this study was to identify a normalizer or combination of normalizers for quantitative evaluation of the expression of a target gene of interest during melanoma progression. Adult melanocytes, uveal primary melanoma cells and cutaneous primary and metastatic melanoma cells were used to construct a panel of 14 experimental models reflecting cancer promotion and progression. Hypoxanthine phosphoribosyltransferase 1 (HPRT1), glucuronidase beta (GUSB), ribosomal protein S23 (RPS23), phosphoglycerate kinase 1 (PGK1) and small nuclear ribonucleoprotein polypeptide A (SRNPA) were chosen as candidate housekeeping genes...
May 17, 2018: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/29774094/selumetinib-based-therapy-in-uveal-melanoma-patient-derived-xenografts
#2
Didier Decaudin, Rania El Botty, Béré Diallo, Gerald Massonnet, Justine Fleury, Adnan Naguez, Chloé Raymondie, Emma Davies, Aaron Smith, Joanne Wilson, Colin Howes, Paul D Smith, Nathalie Cassoux, Sophie Piperno-Neumann, Sergio Roman-Roman, Fariba Némati
The prognosis of metastatic uveal melanoma (UM) is among the worst of all human cancers. The identification of near-ubiquitous GNAQ/GNA11 mutations and the activation of MAPK signaling in UM have raised hopes of more effective, targeted therapies, based on MEK inhibition, for example. We evaluated the potential of drug combinations to increase the efficacy of the MEK inhibitor selumetinib (AZD6244, ARRY-142886), in UM cell lines and Patient-Derived Xenografts. We first evaluated the combination of selumetinib and DTIC...
April 24, 2018: Oncotarget
https://www.readbyqxmd.com/read/29772048/palladium-103-brachytherapy-for-choroidal-melanoma-in-a-pregnant-woman
#3
Ekaterina Semenova, Paul T Finger, Nina Kalach, Walter Choi
The authors present a case of a pregnant woman with uveal melanoma treated with plaque brachytherapy. Her calculated fetal radiation dose was significantly below accepted levels. The use of the authors' novel, custom-made lead chin shield further diminished irradiation of the fetus. This patient had uncomplicated treatment course, delivered a healthy child full term, achieved local tumor control, and maintained 20/25 vision at 1-year follow-up. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:364-368.].
May 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29769598/germline-mutation-in-the-tp53-gene-in-uveal-melanoma
#4
Nikola Hajkova, Jan Hojny, Kristyna Nemejcova, Pavel Dundr, Jan Ulrych, Katerina Jirsova, Johana Glezgova, Ivana Ticha
We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic BAP1 mutation was detected together with germline missense variants of uncertain significance in ATM. All cases carried recurrent activating GNAQ or GNA11 mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on TP53 coding region...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29768245/exploring-the-potential-of-mucin-13-muc13-as-a-biomarker-for-carcinomas-and-other-diseases
#5
Panagiota S Filippou, Annie H Ren, Dimitrios Korbakis, Lampros Dimitrakopoulos, Antoninus Soosaipillai, Vivian Barak, Shahar Frenkel, Jacob Pe'er, Michal Lotem, Sharon Merims, Rafael Molina, Ivan Blasutig, Dimitrios P Bogdanos, Eleftherios P Diamandis
BACKGROUND: Mucin 13 (MUC13) is a cell surface glycoprotein aberrantly expressed in a variety of epithelial carcinomas. Thus far, the role of MUC13 in various diseases remains elusive. To the best of our knowledge, this is the first study to examine the potential of MUC13 as a serum biomarker in a variety of carcinomas and other conditions. METHODS: We developed a recombinant MUC13 protein, mouse monoclonal antibodies and enzyme immunoassay (ELISA) for MUC13. We used this assay to measure MUC13 levels in the supernatants of cancer cell lines and a large cohort of serum samples from healthy and diseased individuals...
May 16, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29765953/response-to-comparison-of-gene-expression-profiling-and-chromosome-3-analysis-by-fluorescent-in-situ-hybridization-and-multiplex-ligation-probe-amplification-in-fine-needle-aspiration-biopsy-specimens-of-uveal-melanoma
#6
https://www.readbyqxmd.com/read/29765944/uveal-melanoma-5-year-update-on-incidence-treatment-and-survival-seer-1973-2013
#7
Mary E Aronow, Allan K Topham, Arun D Singh
Purpose: To analyze trends in incidence, treatment, and survival of uveal melanoma in the United States from 1973 to 2013 using the Surveillance, Epidemiology, and End Results database. Materials and Methods: Patients were identified using International Classification of Disease for Oncology codes: C69.3 (choroid), C69.4 (ciliary body and iris), and C69.2 (retina). Trends in age-adjusted incidence, treatment (surgery or radiation), and 5-year relative survival were calculated...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29765942/malpractice-litigation-in-ocular-oncology
#8
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/29763606/mir-216a-5p-hexokinase-2-axis-regulates-uveal-melanoma-growth-through-modulation-of-warburg-effect
#9
Ying Liu, Yan Huo, Dajiang Wang, Yanhong Tai, Jie Li, Dongbo Pang, Yan Zhang, Wei Zhao, Nan Du, Yifei Huang
Hexokinase-2 (HK2), the initial as well as the rate-limiting step in glycolysis, is overexpressed in many human cancers, and correlates with poor clinical outcomes. Aerobic glycolysis is a hallmark of cancer, and drugs targeting its enzymes, including HK2, are being developed. However, the mechanisms of HK2 inhibition and the physiological significance of the HK2 inhibitors in cancer cells are rarely reported. Here, we show that microRNA-216a-5p (miR-216a-5p) inhibits HK2 expression by directly targeting its 3'-UTR in uveal melanoma cells...
May 12, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29760383/outlier-response-to-anti-pd1-in-uveal-melanoma-reveals-germline-mbd4-mutations-in-hypermutated-tumors
#10
Manuel Rodrigues, Lenha Mobuchon, Alexandre Houy, Alice Fiévet, Sophie Gardrat, Raymond L Barnhill, Tatiana Popova, Vincent Servois, Aurore Rampanou, Aurore Mouton, Stéphane Dayot, Virginie Raynal, Michèle Galut, Marc Putterman, Sarah Tick, Nathalie Cassoux, Sergio Roman-Roman, François-Clément Bidard, Olivier Lantz, Pascale Mariani, Sophie Piperno-Neumann, Marc-Henri Stern
Metastatic uveal melanoma is a deadly disease with no proven standard of care. Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden, MBD4 germline deleterious mutation, and somatic MBD4 inactivation in the tumor. We identify additional tumors in The Cancer Genome Atlas (TCGA) cohorts with similar hypermutator profiles in patients carrying germline deleterious MBD4 mutations and somatic loss of heterozygosity...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29757889/utilizing-t-cell-activation-signals-1-2-and-3-for-tumor-infiltrating-lymphocytes-til-expansion-the-advantage-over-the-sole-use-of-interleukin-2-in-cutaneous-and-uveal-melanoma
#11
René J Tavera, Marie-Andrée Forget, Young Uk Kim, Donastas Sakellariou-Thompson, Caitlin A Creasy, Ankit Bhatta, Orenthial J Fulbright, Renjith Ramachandran, Shawne T Thorsen, Esteban Flores, Arely Wahl, Audrey M Gonzalez, Christopher Toth, Seth Wardell, Rahmatu Mansaray, Laszlo G Radvanyi, Dan S Gombos, Sapna P Patel, Patrick Hwu, Rodabe N Amaria, Chantale Bernatchez, Cara Haymaker
In this study, we address one of the major critiques for tumor-infiltrating lymphocyte (TIL) therapy-the time needed for proper expansion of a suitable product. We postulated that T-cell receptor activation in the first phase of expansion combined with an agonistic stimulation of CD137/4-1BB and interleukin-2 would favor preferential expansion of CD8 TIL. Indeed, this novel 3-signal approach for optimal T-cell activation resulted in faster and more consistent expansion of CD8CD3 TIL. This new method allowed for successful expansion of TIL from cutaneous and uveal melanoma tumors in 100% of the cultures in <3 weeks...
May 11, 2018: Journal of Immunotherapy
https://www.readbyqxmd.com/read/29755733/recent-advancements-in-the-management-of-retinoblastoma-and-uveal-melanoma
#12
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/29755525/quality-of-life-depression-and-anxiety-in-patients-with-uveal-melanoma-a-review
#13
REVIEW
Mario Miniati, Maria Grazia Fabrini, Federica Genovesi Ebert, Maricia Mancino, Alessandra Maglio, Gabriele Massimetti, Enrico Massimetti, Donatella Marazziti
The aim is to summarize current knowledge on both QoL and depressive/anxious symptoms in patients with UM, including studies on the effect on QoL and psychological status of genetic testing related to the risk of metastatic disease. A review from the last 25 years by using the databases "PsycInfo," "Medline," and "Science Direct" was performed. As a total result, eighteen papers were retrieved. Eight studies (44.4%) used a prospective design methodology: two were retrospective observations (11...
2018: Journal of Oncology
https://www.readbyqxmd.com/read/29741103/recent-breakthroughs-in-metastatic-uveal-melanoma-a-cause-for-optimism
#14
Joseph J Sacco, Helen Kalirai, Jenna Kenyani, Carlos R Figueiredo, Judy M Coulson, Sarah E Coupland
No abstract text is available yet for this article.
May 9, 2018: Future Oncology
https://www.readbyqxmd.com/read/29738114/oncogenic-signaling-in-uveal-melanoma
#15
REVIEW
John J Park, Russell J Diefenbach, Anthony M Joshua, Richard F Kefford, Matteo S Carlino, Helen Rizos
Uveal melanoma is the most common primary cancer of the eye, and despite rapidly emerging insights into the molecular profile of this disease, prognosis of patients with metastatic uveal melanoma remains poor with mortality rates unchanged in over 35 years. Early genetic events activate G-protein coupled receptor signaling in nearly all uveal tumors via mutually exclusive mutations in the GNAQ, GNA11, CYSLTR2 or PLCB4 genes. A multitude of signaling cascades downstream of G-protein activation, including protein kinase C and mitogen activated protein kinase activity are actionable and many ongoing clinical trials are targeting these pathways...
May 8, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29732441/quantitative-oct-angiography-evaluation-of-peripapillary-retinal-circulation-after-plaque-brachytherapy
#16
Alison H Skalet, Liang Liu, Christina Binder, Audra K Miller, Jie Wang, David J Wilson, Richard Crilly, Charles R Thomas, Arthur Y Hung, David Huang, Yali Jia
Objective: To study peripapillary retinal capillary circulation in eyes treated with I-125 plaque brachytherapy for uveal melanoma using optical coherence tomography angiography (OCTA). Design: Cross-sectional study of 10 subjects imaged with OCTA prior to uveal melanoma treatment and 15 subjects imaged after development of radiation retinopathy and/or optic neuropathy. Participants: Following IRB approval, subjects were enrolled from an academic ocular oncology clinical practice...
March 2018: Ophthalmology retina
https://www.readbyqxmd.com/read/29726589/chromosomal-rearrangements-in-uveal-melanoma-chromothripsis
#17
Natasha M van Poppelen, Serdar Yavuzyigitoglu, Kyra N Smit, Jolanda Vaarwater, Bert Eussen, Tom Brands, Dion Paridaens, Emine Kiliç, Annelies de Klein
Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX and SF3B1 are described as well as non-random chromosomal aberrations. Chromothripsis is a rare event in which chromosomes are shattered and rearranged and has been reported in a variety of cancers including UM. SNP arrays of 249 UM from patients who underwent enucleation, biopsy or endoresection were reviewed for the presence of chromothripsis. Chromothripsis was defined as ten or more breakpoints per chromosome involved...
May 4, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29705056/long-term-metastatic-risk-after-biopsy-of-posterior-uveal-melanoma
#18
Mette Bagger, Isabel Smidt-Nielsen, Mette K Andersen, Peter K Jensen, Steffen Heegaard, Klaus K Andersen, Søren Friis, Jens F Kiilgaard
PURPOSE: Biopsy of posterior uveal melanoma continues to be intensely debated in terms of the clinical benefits and safety profile. Although several studies have reported a low frequency of ocular complications after tumor biopsy, the potential long-term risk of iatrogenic dissemination remains unresolved. The purpose of this study was to assess the risk of metastatic disease after biopsy of posterior uveal melanoma. DESIGN: Retrospective nationwide cohort study linking clinical and histopathologic records to pathology, cancer, and mortality registries...
April 25, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29700547/gold-nanocages-entering-into-the-realm-of-high-contrast-photoacoustic-ocular-imaging
#19
Sreejith Raveendran, Hoong-Ta Lim, Toru Maekawa, Murukeshan Vadakke Matham, D Sakthi Kumar
Bioinert gold nanoparticles of various shapes and functionalities are widely accepted as contrast agents (CAs) for several modalities of imaging, viz., electron microscopy, computerized tomography (CT), X-ray and photoacoustic (PA) imaging. However, testing of novel compact-imaging probes for ocular diagnostic imaging is always challenging. Here, ultra-fast microwave oven synthesized gold nanocages (AuNcgs) were successfully demonstrated for high-contrast PA ocular imaging for the first time. Methods are described for the synthesis, characterization and application of quickly synthesized AuNcgs in diagnostic ocular imaging...
April 27, 2018: Nanoscale
https://www.readbyqxmd.com/read/29696968/melanosome-targeting-near-infrared-fluorescent-probe-with-large-stokes-shift-for-in-situ-quantification-of-tyrosinase-activity-and-assessing-drugs-effects-on-differently-invasive-melanoma-cells
#20
Manshu Peng, Yan Wang, Qiang Fu, Feifei Sun, Na Na, Jin Ouyang
Tyrosinase (TYR) plays a vital role in melanin biosynthesis and is widely regarded as a relatively specific marker for melanocytic lesions which involve vitiligo, malignant cutaneous melanoma, Parkinson's disease (PD), etc. However, the detection of TYR in living cells with fluorescent probes is usually interfered by diverse endogenous reactive oxygen species (ROS) and reactive nitrogen species (RNS). Herein, we synthesized a melanosome-targeting near-infrared (NIR) fluorescent probe (HB-NP) with a large Stokes shift (195 nm), achieving a highly sensitive and selective in situ detection for intracellular TYR, by incorporating m-hydroxybenzy moiety that recognizes TYR specifically and the morpholine unit which facilitates the probe accumulating in melanosome into salicyladazine skeleton...
April 26, 2018: Analytical Chemistry
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