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Melanoma genetics

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https://www.readbyqxmd.com/read/28718799/zebrafish-as-a-model-organism-for-the-development-of-drugs-for-skin-cancer
#1
REVIEW
Fatemeh Bootorabi, Hamed Manouchehri, Reza Changizi, Harlan Barker, Elisabetta Palazzo, Annalisa Saltari, Mataleena Parikka, Carlo Pincelli, Ashok Aspatwar
Skin cancer, which includes melanoma and squamous cell carcinoma, represents the most common type of cutaneous malignancy worldwide, and its incidence is expected to rise in the near future. This condition derives from acquired genetic dysregulation of signaling pathways involved in the proliferation and apoptosis of skin cells. The development of animal models has allowed a better understanding of these pathomechanisms, with the possibility of carrying out toxicological screening and drug development. In particular, the zebrafish (Danio rerio) has been established as one of the most important model organisms for cancer research...
July 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28713672/bap1-a-tumor-suppressor-gene-driving-malignant-mesothelioma
#2
REVIEW
Mitchell Cheung, Joseph R Testa
Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28712033/oncolytic-immunotherapy-unlocking-the-potential-of-viruses-to-help-target-cancer
#3
REVIEW
Omid Hamid, Brianna Hoffner, Eduard Gasal, Jenny Hong, Richard D Carvajal
Oncolytic immunotherapy is a research area of cancer immunotherapy investigating the use of modified viruses to target cancer cells. A variety of different viral backbones (e.g., adenovirus, reovirus) with a diverse range of genetic modifications are currently being investigated for the treatment of a variety of cancers. The oncolytic virus that has advanced the furthest in clinical development is talimogene laherparepvec, a recombinant HSV-1 virus expressing granulocyte-macrophage colony-stimulating factor (GM-CSF)...
July 15, 2017: Cancer Immunology, Immunotherapy: CII
https://www.readbyqxmd.com/read/28711882/hla-drb1-alleles-as-genetic-risk-factors-for-the-development-of-anti-mda5-antibodies-in-patients-with-dermatomyositis
#4
Zhiyong Chen, Yan Wang, Masataka Kuwana, Xue Xu, Wei Hu, Xuebing Feng, Hong Wang, Akinori Kimura, Lingyun Sun
OBJECTIVE: Patients with polymyositis/dermatomyositis (PM/DM) who express anti-melanoma differentiation associated protein 5 (anti-MDA5) antibodies frequently present with interstitial lung disease (ILD). The aim of this study was to investigate the association of HLA-DRB1 with anti-MDA5 expression in PM/DM. METHODS: The frequency of DRB1 alleles was compared among 70 patients with PM, 104 patients with DM, and 400 healthy controls in a Han Chinese population. RESULTS: Frequencies of DRB1*04:01 [17...
July 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28703311/mechanisms-and-prevention-of-uv-induced-melanoma
#5
REVIEW
Ashley Sample, Yu-Ying He
Melanoma is the deadliest form of skin cancer and its incidence is rising, creating a costly and significant clinical problem. Exposure to ultraviolet (UV) radiation, namely UVA (315-400 nm) and UVB (280-315 nm), is a major risk factor for melanoma development. Cumulative UV radiation exposure from sunlight or tanning beds contributes to UV-induced DNA damage, oxidative stress, and inflammation in the skin. A number of factors, including hair color, skin type, genetic background, location, and history of tanning, determine the skin's response to UV radiation...
July 13, 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/28700778/frequent-gnaq-gna11-and-eif1ax-mutations-in-iris-melanoma
#6
Simone L Scholz, Inga Möller, Henning Reis, Daniela Süßkind, Johannes A P van de Nes, Sonia Leonardelli, Bastian Schilling, Elisabeth Livingstone, Tobias Schimming, Annette Paschen, Antje Sucker, Rajmohan Murali, Klaus-Peter Steuhl, Dirk Schadendorf, Henrike Westekemper, Klaus G Griewank
Purpose: The most common malignant intraocular tumors with a high mortality in adults are uveal melanomas. Uveal melanomas arise most frequently in the choroid or ciliary body (97%) and rarely in the iris (3%). Whereas conjunctival and posterior uveal (ciliary body and choroidal) melanomas have been studied in more detail genetically, little data exist regarding iris melanomas. Methods: In our study, we genetically analyzed 19 iris melanomas, 8 ciliary body melanomas, 3 ring melanomas, and 4 iris nevi...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28699883/familial-melanoma-astrocytoma-syndrome-synchronous-diffuse-astrocytoma-and-pleomorphic-xanthoastrocytoma-in-a-patient-with-germline-cdkn2a-b-deletion-and-a-significant-family-history
#7
Andrew K Chan, Seunggu J Han, Winward Choy, Daniah Beleford, Manish K Aghi, Mitchel S Berger, Joseph T Shieh, Andrew W Bollen, Arie Perry, Joanna J Phillips, Nicholas Butowski, David A Solomon
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the CDKN2A tumor suppressor gene on chromosome 9p21. While some families with germline CDKN2A mutations are prone to development of just melanomas, other families develop both melanomas, astrocytomas, and occasionally other nervous-system neoplasms including peripheral nerve sheath tumors and meningiomas. The histologic spectrum of the astrocytomas that arise as part of this syndrome is not well described, nor are the additional genetic alterations that drive these astrocytomas apart from the germline CDKN2A inactivation...
July 12, 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/28691878/-molecular-background-of-the-melanoma-and-the-brain-metastasis
#8
Frida Katona, Balázs Murnyák, György Marko-Varga, Tibor Hortobágyi
Malignant melanoma is one of the most aggressive tumors which often gives metastasis to distant organs thereby limiting the chances of survival. Brain metastasis occurs in nearly half of the advanced tumors. In order to improve outcome early diagnosis is important. The discovery and better understanding of genetic and epigenetic changes is essential for developing new effective therapies, which can designate promising therapeutic targets. Melanoma most often is caused by gene mutations of the mitogen-activated protein kinase pathway, the phosphatidylinositol 3-kinase signaling pathway, and the cell cycle regulatory molecules, respectively...
July 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28690979/presentation-treatment-and-prognosis-of-secondary-melanoma-within-the-orbit
#9
Anna M Rose, Sophie Cowen, Channa N Jayasena, David H Verity, Geoffrey E Rose
BACKGROUND: Ocular melanoma is a rare but often deadly malignancy that arises in the uvea, conjunctiva, or orbit. Uveal melanoma is the most common type, with conjunctival melanoma being the second most frequently observed. Melanoma accounts for 5-10% of metastatic or secondary orbital malignancies, but only a minute proportion of primary orbital neoplasia. The aim of this study was to characterize the clinical presentation, treatment, and prognosis in patients presenting with melanoma metastatic to, or secondary within, the orbit...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/28679751/aim2-like-receptors-positively-and-negatively-regulate-the-interferon-response-induced-by-cytosolic-dna
#10
Yuki Nakaya, Jingtao Lilue, Spyridon Stavrou, Eileen A Moran, Susan R Ross
Cytosolic DNAs derived from retrotransposons serve as pathogen-associated molecular patterns for pattern recognition receptors (PRRs) that stimulate the induction of interferons (IFNs) and other cytokines, leading to autoimmune disease. Cyclic GMP-AMP synthase is one PRR that senses retrotransposon DNA, activating type I IFN responses through the stimulator of IFN genes (STING). Absent in melanoma 2 (AIM2)-like receptors (ALRs) have also been implicated in these pathways. Here we show that the mouse ALR IFI205 senses cytosolic retrotransposon DNA independently of cyclic GMP-AMP production...
July 5, 2017: MBio
https://www.readbyqxmd.com/read/28673748/late-solitary-extraocular-recurrence-from-previously-resected-iris-melanoma
#11
Ido Didi Fabian, Caroline Thaung, Lamis AlHarby, Karen Sisley, Hardeep S Mudhar, Rachel E Doherty, Andrew W Stacey, Amit K Arora, Victoria M L Cohen, Mandeep S Sagoo
PURPOSE: To report on cases of late extraocular relapse of previously resected iris melanoma, without concurrent intraocular recurrence. DESIGN: Retrospective case series. METHODS: A retrospective chart review of 4 patients diagnosed with late subconjunctival relapse of previously resected iris melanoma. RESULTS: Three females and one male underwent iris tumour resection and presented to our service with suspicious conjunctival lesions at a median of 22 years later (mean: 21)...
June 30, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28667565/is-low-fmr1-cgg-repeat-length-in-males-correlated-with-family-history-of-brca-associated-cancers-an-exploratory-analysis-of-medical-records
#12
Hallee C Adamsheck, Elizabeth M Petty, Jinkuk Hong, Mei W Baker, Murray H Brilliant, Marsha R Mailick
The FMR1 gene has been studied extensively with regard to expansions and premutations, but much less research has focused on potential effects of low CGG repeat length. Previous studies have demonstrated that BRCA1/2 positive women are more likely to have an FMR1 genotype with one low CGG allele, and that women with both FMR1 alleles in the low CGG repeat range are more likely to have had breast cancer compared to women with normal numbers of CGG repeats. However, there has been no research as to whether low CGG repeat length impacts cancer risks in men...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28666268/myeloid-specific-genetic-ablation-of-atp-binding-cassette-transporter-abca1-is-protective-against-cancer
#13
Maryam Zamanian-Daryoush, Daniel J Lindner, Joseph A DiDonato, Matthew Wagner, Jennifer Buffa, Patricia Rayman, John S Parks, Marit Westerterp, Alan R Tall, Stanley L Hazen
Increased circulating levels of apolipoprotein A-I (apoA-I), the major protein of high-density lipoprotein (HDL), by genetic manipulation or infusion, protects against melanoma growth and metastasis. Herein, we explored potential roles in melanoma tumorigenesis for host scavenger receptor class B, type 1 (SR-B1), and ATP-binding cassette transporters A1 (ABCA1) and G1 (ABCG1), all mediators of apoA-I and HDL sterol and lipid transport function. In a syngeneic murine melanoma tumor model, B16F10, mice with global deletion of SR-B1 expression exhibited increased plasma HDL cholesterol (HDLc) levels and decreased tumor volume, indicating host SR-B1 does not directly contribute to HDL-associated anti-tumor activity...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28665870/molecular-prognostics-for-uveal-melanoma
#14
Michael I Seider, Prithvi Mruthyunjaya
PURPOSE: To review laboratory methods, currently available commercial tests, caveats and clinical tips regarding prognostic analysis of uveal melanoma tissue. METHODS: A review of the literature was performed focused on the genetic abnormalities found in uveal melanoma cells, their correlation to the development of metastases, the validity of various laboratory approaches in their detection, and the existing commercially available tests for uveal melanoma prognostication...
June 29, 2017: Retina
https://www.readbyqxmd.com/read/28663552/using-attenuated-total-reflection-fourier-transform-infra-red-atr-ftir-spectroscopy-to-distinguish-between-melanoma-cells-with-a-different-metastatic-potential
#15
Refael Minnes, Mati Nissinmann, Yael Maizels, Gabi Gerlitz, Abraham Katzir, Yosef Raichlin
The vast majority of cancer related deaths are caused by metastatic tumors. Therefore, identifying the metastatic potential of cancer cells is of great importance both for prognosis and for determining the correct treatment. Infrared (IR) spectroscopy of biological cells is an evolving research area, whose main aim is to find the spectral differences between diseased and healthy cells. In the present study, we demonstrate that Attenuated Total Reflection Fourier Transform IR (ATR-FTIR) spectroscopy may be used to determine the metastatic potential of cancer cells...
June 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28662062/reflectance-confocal-microscopy-features-of-braf-v600e-mutated-thin-melanomas-detected-by-immunohistochemistry
#16
Ana Claudia Urvanegia, Juliana Casagrande Tavoloni Braga, Danielle Shitara, Jose Humberto Fregnani, Jose Ivanildo Neves, Clovis Antonio Pinto, Ashfaq A Marghoob, Joao Pedreira Duprat, Gisele Gargantini Rezze
The classification of melanoma into four histological subtypes has been questioned regarding its clinical validity in providing relevant information for treatment for metastatic tumors. Specific genetic alterations are associated with particular clinical and histopathological features, suggesting that these could be helpful in refining existing melanoma classification schemes. We analyzed BRAF V600E mutated melanomas to explore the Reflectance confocal microscopy (RCM) utility as a screening aid in the evaluation of the most appropriate patients for genetic testing...
2017: PloS One
https://www.readbyqxmd.com/read/28660280/evaluation-of-a-rapid-fully-automated-platform-for-detection-of-braf-and-nras-mutations-in-melanoma
#17
Fanny Barel, Briac Guibourg, Laetitia Lambros, Glen Le Flahec, Pascale Marcorelles, Arnaud Uguen
BRAF and NRAS genetic analyses are time-consuming and can delay treatment choices in patients with metastatic melanomas presenting with acute deterioration. We compared the rapid, real-time, fully automated molecular diagnosis platform Idylla™ with next-generation sequencing (NGS) and immunohistochemistry for detection of BRAF and NRAS mutations in 36 patients with metastatic melanomas. The Idylla™ NRAS-BRAF-EGFRS492R mutation assay (110 min per sample) detected BRAF and NRAS mutations in 15 and 17 samples, respectively...
June 29, 2017: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/28657194/accommodating-missingness-in-environmental-measurements-in-gene-environment-interaction-analysis
#18
Mengyun Wu, Yangguang Zang, Sanguo Zhang, Jian Huang, Shuangge Ma
For the prognosis of complex diseases, beyond the main effects of genetic (G) and environmental (E) factors, gene-environment (G-E) interactions also play an important role. Many approaches have been developed for detecting important G-E interactions, most of which assume that measurements are complete. In practical data analysis, missingness in E measurements is not uncommon, and failing to properly accommodate such missingness leads to biased estimation and false marker identification. In this study, we conduct G-E interaction analysis with prognosis data under an accelerated failure time (AFT) model...
June 28, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28656717/filling-the-gaps-in-the-genomic-catalogue-of-melanoma-subtypes
#19
A Hunter Shain, Boris C Bastian
Melanoma is a neoplastic disorder that frequently arises on the sun-exposed skin of light-skinned individuals. Melanomas can also occur on anatomic sites that are partially or completely shielded from sunlight, and these subtypes affect world populations at similar incidences, independent of skin color. These sun-shielded melanomas also differ in their clinical and histologic presentations as well as in their patterns of driver mutations and mutational mechanisms. These notable differences have led to classifications distinguishing melanoma subtypes, originally based on clinical and histopathological features(1) , and later integrating these features with genetic alterations(2) ...
June 28, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28656250/microrna-605-functions-as-a-tumor-suppressor-by-targeting-inpp4b-in-melanoma
#20
Lan Chen, Yaxuan Cao, Dongyun Rong, Ye Wang, Yu Cao
MicroRNAs (miRNAs) play crucial roles in the initiation and progression of various cancers, including melanoma. Recently, the genetic variants and deregulation of miR-605 have been reported to participate in carcinogenesis. However, the expression status of the miR-605 in melanoma tissues and its role in melanoma progression remain unknown. In this study, we found that miR-605 was significantly downregulated in melanoma cell lines and clinical specimens. Further function studies demonstrated that miR-605 suppressed melanoma cell growth both in vitro and in vivo...
June 22, 2017: Oncology Reports
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