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Pigment Cell & Melanoma Research

Clément Jacquemin, Alain Taieb, Katia Boniface, Julien Seneschal
Vitiligo is an autoimmune disease characterized by the presence of several autoantibodies, some of which are directed against melanocyte components and have been shown to be associated with the progression of the disease. However, the mechanism involved in the production of autoantibodies remains unclear. Follicular helper CD4+ T cells (TFH) are specialized in B cell activation and antibody production, especially the TFH cell subsets type 2 and type 17. To date, TFH cell subsets have not been studied in human vitiligo...
December 15, 2018: Pigment Cell & Melanoma Research
Maximilian Ulrich, Sigrid Tinschert, Eberhard Siebert, Ingolf Franke, Thomas Tüting, Jens Ulrich, Denny Schanze, Ilse Wieland, Martin Zenker
Mosaic RASopathies constitute a clinically and genetically heterogeneous group of non-inherited congenital (neuro)cutaneous disorders caused by postzygotic mutations in genes encoding components of the RAS-MAPK signaling pathway (Luo & Tsao, 2014). There are striking genotype-phenotype correlations within this group but also clinical features overlapping between distinct disorders. Congenital melanocytic nevi (CMN) are the most common lesions falling into the category of mosaic RASopathies. This article is protected by copyright...
December 7, 2018: Pigment Cell & Melanoma Research
Miroslav Hejna, Wooyoung M Moon, Jeffrey Cheng, Akinori Kawakami, David E Fisher, Jun S Song
MITF and MYC are well-known oncoproteins and members of the basic helix-loop-helix leucine zipper (bHLH-Zip) family of transcription factors (TFs) recognizing hexamer E-box motifs. MITF and MYC not only share the core binding motif, but are also the two most highly expressed bHLH-Zip transcription factors in melanocytes, raising the possibility that they may compete for the same binding sites in select oncogenic targets. Mechanisms determining the distinct and potentially overlapping binding modes of these critical oncoproteins remain uncharacterized...
December 7, 2018: Pigment Cell & Melanoma Research
Saskia Anna Graf, Markus Vincent Heppt, Anja Wessely, Stefan Krebs, Claudia Kammerbauer, Eva Hornig, Annamarie Strieder, Helmut Blum, Anja-Katrin Bosserhoff, Carola Berking
The transcription factor sex determining region Y-box 10 (SOX10) plays a key role in the development of melanocytes and glial cells from neural crest precursors. SOX10 is involved in melanoma initiation, proliferation, invasion, and survival. However, specific mediators which impart its oncogenic properties remain widely unknown. To identify target genes of SOX10, we performed RNA sequencing after ectopic expression of SOX10 in human melanoma cells. Among nine differentially regulated genes, peripheral myelin protein 2 (PMP2) was consistently upregulated in several cell lines...
December 2, 2018: Pigment Cell & Melanoma Research
Hitaishi Kaushik, Deepti Malik, Deepak Kaul, Davinder Parsad
Most of the cancer types in general and melanoma in particular exhibit mitochondrial dysfunction leading to the Warburg effect. Our present study stemmed from the observation that human melanoma A-375 and B16 cells displayed overexpression of a novel micro-RNA, miR-2909, shown in our earlier studies to be involved in aerobic glycolysis. Consequently, our study attempts to demonstrate the role of miR-2909 in the regulation of mitochondrial function within human melanocytes. Based upon such a study, we hypothesize that mitochondrial dysfunction observed in melanomas may result from deregulated miR-2909 expression within such cells...
December 2, 2018: Pigment Cell & Melanoma Research
Kristýna Němejcová, Ivana Tichá, Michaela Bártů, Ondřej Kodet, Miroslav Důra, Radek Jakša, Romana Michálková, Pavel Dundr
The objective of our study is a comparison of five different scoring methods of tumor infiltrating lymphocytes (TILs) assessment in a group of 213 cases of superficial spreading and nodular melanoma. The scoring methods include i) Clark scoring; ii) Melanoma Institute Australia system; iii) scoring system used in the study of Saldanha et al.; iv) scoring system used in the TCGA study and modified by Park et al.; v) the system recently proposed by the "International Immuno-Oncology Biomarker Working Group" for TILs scoring in all solid tumors...
December 1, 2018: Pigment Cell & Melanoma Research
Griffin Lentsch, Mihaela Balu, Joshua Williams, Sanghoon Lee, Ronald M Harris, Karsten König, Anand Ganesan, Bruce J Tromberg, Nirmala Nair, Uma Santhanam, Manoj Misra
Melasma is a skin disorder characterized by hyperpigmented patches due to increased melanin production and deposition. In this pilot study we evaluate the potential of multiphoton microscopy (MPM) to characterize non-invasively the melanin content, location, and distribution in melasma and assess the elastosis severity. We employed a clinical MPM tomograph to image in-vivo morphological features in melasma lesions and adjacent normal skin in 12 patients. We imaged dermal melanophages in most dermal melasma lesions and occasionally in epidermal melasma...
December 1, 2018: Pigment Cell & Melanoma Research
Beatrice Polini, Sara Carpi, Antonella Romanini, Maria Cristina Breschi, Paola Nieri, Adriano Podestà
Cutaneous melanoma is a skin cancer with increasing incidence. Identification of novel clinical biomarkers able to detect the stage of disease and suggest prognosis could improve treatment and outcome for melanoma patients. Cell-free microRNAs (cf-miRNAs), are the circulating copies of short non-coding RNAs involved in gene expression regulation. They are released into the interstitial fluid, are detectable in blood and other body fluids and have interesting features of ideal biomarker candidates. They are stable outside the cell, tissue specific, vary along with cancer development and are sensitive to change in the disease course such as progression or therapeutic response...
November 27, 2018: Pigment Cell & Melanoma Research
Shosuke Ito, Ludger Kolbe, Gudrun Weets, Kazumasa Wakamatsu
Exposure to excess ultraviolet (UV) A radiation induces the degradation/modification of both eumelanin and pheomelanin that may be deleterious to pigmented tissues. Although the spectral distribution of solar energy comprises nearly half of visible light (VL), few studies have been conducted to examine the role of VL in the photodegradation of both types of melanin, either VL alone or in combination with UVA. In this study, we examined the effects of physiological doses of VL (150 to 300 J cm-2 ) alone or in combination with a physiological dose of UVA (20 J cm-2 ) in normal human epidermal melanocytes...
November 22, 2018: Pigment Cell & Melanoma Research
Jingyi Li, Bertrand Bed'hom, Sylvain Marthey, Mathieu Valade, Audrey Dureux, Marco Moroldo, Christine Péchoux, Jean-Luc Coville, David Gourichon, Agathe Vieaud, Ben Dorshorst, Leif Andersson, Michèle Tixier-Boichard
The chocolate plumage color in chickens is due to a sex-linked recessive mutation, choc, which dilutes eumelanin pigmentation. Because TYRP1 is sex-linked in chickens, and TYRP1 mutations determine brown coat color in mammals, TYRP1 appeared as the obvious candidate gene for the choc mutation. By combining gene mapping with gene capture, a complete association was identified between the chocolate phenotype and a missense mutation leading to a His214Asn change in the ZnA zinc-binding domain of the protein. A diagnostic test confirmed complete association by screening 428 non-chocolate chickens of various origins...
November 20, 2018: Pigment Cell & Melanoma Research
Cibele Cardoso, Rodolfo B Serafim, Akinori Kawakami, Cristiano Gonçalves Pereira, Jason Roszik, Valeria Valente, Vinicius L Vazquez, David E Fisher, Enilza M Espreafico
RMEL3 is a recently identified lncRNA associated with BRAFV600E mutation and melanoma cell survival. Here we demonstrate strong and moderate RMEL3 upregulation in BRAF and NRAS mutant melanoma cells, respectively, compared to melanocytes. High expression is also more frequent in cutaneous than in acral/mucosal melanomas, and analysis of an ICGC melanoma dataset showed that mutations in RMEL3 locus are preponderantly C>T substitutions at dipyrimidine sites including CC>TT, typical of UV-signature. RMEL3 mutation does not correlate with RMEL3 levels, but does with poor patient survival, in TCGA melanoma-dataset...
November 20, 2018: Pigment Cell & Melanoma Research
Andrzej Zadlo, Grzegorz Szewczyk, Michal Sarna, Theodore G Camenisch, Jason W Sidabras, Shosuke Ito, Kazumasa Wakamatsu, Filip Sagan, Mariusz Mitoraj, Tadeusz Sarna
Although melanin is a photoprotective pigment, its elevated photochemical reactivity could lead to various phototoxic processes. Photoreactivity of synthetic pheomelanin, derived from 5-S-cysteinyldopa (5SCD-M) and its photodegradation products obtained by subjecting the melanin to aerobic irradiation with UV-visible light, was examined employing an array of advanced physicochemical methods. Extensive photolysis of 5SCD-M was accompanied by partial bleaching of the melanin, modification of its paramagnetic properties and significant increase in the ability to photogenerate singlet oxygen...
November 20, 2018: Pigment Cell & Melanoma Research
Florence Assan, Eve Vilaine, Sandra Wagner, Christine Longvert, Philippe Saiag, Alexandre Seidowsky, Isabelle Bourgault-Villada, Ziad A Massy
The incidence of malignant melanoma has increased over the past two decades. A combined BRAF/MEK inhibitor regimen has been shown to lead to prolonged survival and progression-free survival in patients with metastatic BRAF V600-mutant melanoma. Different nephrotoxic effects have been described, among them hyponatremia. The goal of the present narrative review was to understand the pathophysiological mechanisms driving hyponatremia when using selective BRAF inhibitors and/or MEK inhibitors in order to propose potential strategies to prevent or to treat this side effect...
November 2, 2018: Pigment Cell & Melanoma Research
Aihua Wei, Yefeng Yuan, Zhan Qi, Teng Liu, Dayong Bai, Yingzi Zhang, Jiaying Yu, Lin Yang, Xiumin Yang, Wei Li
Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency and other symptoms due to multiple defects in tissue-specific lysosome-related organelles. Ten HPS subtypes have been characterized with mutations in HPS1 to HPS10, which encode the subunits of BLOC-1, -2, -3, and AP-3. Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS-1, one HPS-3, one HPS-4, one HPS-5, and three HPS-6...
November 2, 2018: Pigment Cell & Melanoma Research
Goran Micevic, Durga Thakral, Meaghan McGeary, Marcus Bosenberg
The aim of this study is to determine the significance of programmed death-ligand 1 (PD-L1 or CD274) methylation in relation to PD-L1 expression and survival in melanoma. Despite the clinical importance of therapies targeting the PD-1/PD-L1 immune checkpoint in melanoma, factors regulating PD-L1 expression, including epigenetic mechanisms, are not completely understood. In this study, we examined PD-L1 promoter methylation in relation to PD-L1 expression and overall survival in melanoma patients. Our results suggest that DNA methylation regulates PD-L1 expression in melanoma, and we identify the key methylated CpG loci in the PD-L1 promoter, establish PD-L1 methylation as an independent survival prognostic factor, provide proof-of-concept for altering PD-L1 expression by hypomethylating agents, and uncover that PD-L1 methylation is associated with an interferon-signaling transcriptional phenotype...
October 21, 2018: Pigment Cell & Melanoma Research
Carla Daniela Robles-Espinoza
Drug resistance is a major problem in cancer treatment. In cutaneous melanoma, a large fraction of tumours carry BRAFV 600E or BRAFV 600K mutations (hereinafter referred to as BRAFV 600E/K ), which result in activation of the mitogen-activated protein kinase (MAPK) pathway, sustaining cancer cell proliferation and survival. In 2011, a landmark phase III study demonstrated that vemurafenib, a drug specifically targeting cells with BRAFV 600E mutations, significantly improved progression-free survival over the conventional chemotherapy drug dacarbazine (Chapman et al...
October 19, 2018: Pigment Cell & Melanoma Research
Laura L Baxter, Dawn E Watkins-Chow, William J Pavan, Stacie K Loftus
Over the past century, studies of human pigmentary disorders along with mouse and zebrafish models have shed light on the many cellular functions associated with visible pigment phenotypes. This has led to numerous genes annotated with the ontology term "pigmentation" in independent human, mouse and zebrafish databases. Comparisons among these datasets revealed that each is individually incomplete in documenting all genes involved in integument-based pigmentation phenotypes. Additionally, each database contained inherent species-specific biases in data annotation, and the term "pigmentation" did not solely reflect integument pigmentation phenotypes...
October 19, 2018: Pigment Cell & Melanoma Research
Nicholas Theodosakis, Casey G Langdon, Goran Micevic, Irina Krykbaeva, Robert E Means, David F Stern, Marcus W Bosenberg
This study evaluates the use of HMG-CoA reducatase inhibitors, or statins, as an adjunctive to BRAF and MEK inhibition as a treatment in melanomas and other tumors with driver mutations in the MAPK pathway. Experiments used simvastatin in conjunction with vemurafenib and selumetinib in vitro and simvastatin with vemurafenib in vivo to demonstrated additional growth abrogation beyond MAPK blockade alone. Additional studies demonstrated that statin anti-tumor effects appeared to depend on inhibition of isoprenoid synthesis given rescue with add-back of downstream metabolites...
October 3, 2018: Pigment Cell & Melanoma Research
Michael P Smith, Sareena Rana, Jennifer Ferguson, Emily J Rowling, Keith T Flaherty, Jennifer A Wargo, Richard Marais, Claudia Wellbrock
The BRAF-kinase and the MAPK-pathway are targets of current melanoma therapies. However, MAPK-pathway inhibition results in dynamic changes of down-stream targets that can counteract inhibitor-action not only during treatment, but also in acquired resistant tumours. One such dynamic change involves the expression of the transcription factor MITF, a crucial regulator of cell survival and proliferation in untreated as well as drug-addicted acquired resistant melanoma. Tight control over MITF expression levels is required for optimal melanoma growth, and while it is well established that the MAPK-pathway regulates MITF expression, the actual mechanism is insufficiently understood...
October 1, 2018: Pigment Cell & Melanoma Research
Nicholas D'Arcy, Nicholas Matigian, Kim-Anh Lê Cao, Brian Gabrielli
Ultraviolet Radiation (UVR) is the major environmental mutagen driving the development of melanoma. The major UVR-induced DNA lesions, 6-4 photoproducts and cyclobutane pyrimidine dimers are primarily repaired by Nucleotide Excision Repair (NER). The very high levels of UV signature mutations (USM; Signature 7 mutations) that are observed in melanomas are the direct outcome of unrepaired UV-induced lesions (Alexandrov et al., 2013; Hodis et al., 2012), suggesting that there must be defects in the repair of these lesions, and thus potentially in NER...
September 30, 2018: Pigment Cell & Melanoma Research
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