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Pigment Cell & Melanoma Research

Irene Orlow, Yang Shi, Peter A Kanetsky, Nancy E Thomas, Li Luo, Sergio Corrales Guerrero, Anne E Cust, Lidia Sacchetto, Roberto Zanetti, Stefano Rosso, Bruce K Armstrong, Terence Dwyer, Alison Venn, Richard P Gallagher, Stephen B Gruber, Loraine D Marrett, Hoda Anton-Culver, Klaus Busam, Colin B Begg, Marianne Berwick
Evidence on the relationship between the vitamin D pathway and outcomes in melanoma is growing, although it is not always clear. We investigated the impact of measured levels of sun exposure at diagnosis on associations of vitamin D receptor gene (VDR) polymorphisms and melanoma-death in 3336 incident primary melanoma cases. Interactions between six SNPs and a common 3' end haplotype were significant (p<0.05). These SNPs, and a haplotype, had a statistically significant association with survival among subjects exposed to high UVB in multivariable regression models, and exerted their effect in the opposite direction among those with low UVB...
October 9, 2017: Pigment Cell & Melanoma Research
Eleonora Leucci
No abstract text is available yet for this article.
October 6, 2017: Pigment Cell & Melanoma Research
Aurélie Marti, Eulalie Lasseaux, Khaled Ezzedine, Christine Léauté-Labrèze, Franck Boralevi, Clément Paya, Valentine Coste, Vincent Deroissart, Benoit Arveiler, Alain Taieb, Fanny Morice-Picard
Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for 1 patient (1...
October 4, 2017: Pigment Cell & Melanoma Research
Malmaruha Arasaratnam, Angela Hong, Brindha Shivalingam, Helen Wheeler, Alexander D Guminksi, Georgina V Long, Alexander M Menzies
Leptomeningeal metastases (LM) occur more often in patients with melanoma than many other cancers, and historically these patients have an extremely poor prognosis, with survival ranging from 8-10 weeks (Harstad, Hess, & Groves, 2008). Landmark trials of BRAF inhibitors (BRAFi) and anti-PD-1 checkpoint inhibitor immunotherapy have shown high response rates and prolonged survival in patients with melanoma, but have tended to exclude patients with central nervous system metastasis, particularly those with leptomeningeal metastases (Larkin, Hodi, & Wolchok, 2015; G...
October 4, 2017: Pigment Cell & Melanoma Research
Fiona P Bailey, Kim Clarke, Helen Kalirai, Jenna Kenyani, Haleh Shahidipour, Francesco Falciani, Judy M Coulson, Joseph J Sacco, Sarah E Coupland, Patrick A Eyers
Metastatic uveal melanoma (UM) is invariably fatal, usually within a year of diagnosis. There are currently no effective therapies, and clinical studies employing kinase inhibitors have so far demonstrated limited success. This is despite common activating mutations in GNAQ/11 genes, which trigger signalling pathways that might predispose tumours to a variety of targeted drugs. In this study, we have profiled kinome expression network dynamics in various human ocular melanomas. We uncovered a shared transcriptional profile in human primary UM samples and across a variety of experimental cell-based models...
October 3, 2017: Pigment Cell & Melanoma Research
Revati Darp, Craig Ceol
Chromatin modifying enzymes place and remove chemical groups on histones and DNA in a very dynamic and regulated fashion. Along with impacting the structure of chromatin by altering non-covalent interactions between nucleosomes (1), these epigenetic modifications can more directly regulate DNA-based processes including transcription, and DNA repair and replication. Aberrant activity of chromatin modifying enzymes can have profound consequences that can lead to the initiation and maintenance of various cancers (1)...
October 3, 2017: Pigment Cell & Melanoma Research
Karen A Malkhasyan, Yousef Zakharia, Mohammed Milhem
For patients with metastatic melanoma, the emergence of immune checkpoint inhibitors and targeted BRAF and MEK inhibitors has markedly enhanced clinical outcomes compared with chemotherapy. However, these novel agents are also associated with unique sets of adverse events, and increased overall survival can lead to prolonged exposure to some novel agents. Therefore, clinical evaluation of these therapies has now included the analysis of health-related quality of life (HRQoL) in addition to more traditional efficacy and safety outcomes as a measure of patient perception of benefit...
September 26, 2017: Pigment Cell & Melanoma Research
María Gabriela Vallone, Gemma Tell-Marti, Miriam Potrony, Aida Rebollo-Morell, Celia Badenas, Joan Anton Puig-Butille, Pol Gimenez-Xavier, Cristina Carrera, Josep Malvehy, Susana Puig
The Melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair colour phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R variant carriers had larger nevi both on the back (p-value = 0.016, adjusted for multiple parameters (adj. p-value)) and on the upper limbs (adj. p-value = 0.007). Specifically, we identified a positive association between the "R'' MC1R variants and visible vessels in nevi (p-value = 0...
September 26, 2017: Pigment Cell & Melanoma Research
Veronica A Kinsler, Lionel Larue
Systematic work in the mouse and chicken has mapped out two neural crest-derived pathways of melanocyte precursor migration. With these in mind, this study reappraises the patterns of congenital pigmentary disorders in humans and identifies three recurrent patterns consistent across genetically different diseases. Only two of these are seen in diseases known to be melanocyte cell-autonomous. The segmental pattern correlates well with the classical dorsolateral population from animal studies, demonstrating respect of the midline, cranio-caudal axial mixing, unilateral migration and involvement of key epidermally derived structures...
September 23, 2017: Pigment Cell & Melanoma Research
Alain P Algazi, Rosaura Esteve-Puig, Adi Nosrati, Brian Hinds, Adele Hobbs-Muthukumar, Prachi Nandoskar, Susana Ortiz-Urda, Paul B Chapman, Adil Daud
Aberrant MAPK and PI3K pathway signaling may drive the malignant phenotype in NRAS mutant and BRAF(WT) NRAS(WT) metastatic melanoma. To target these pathways NRAS mutant and BRAF(WT) NRAS(WT) patients received oral trametinib at 1.5 mg daily and GSK2141795 at 50 mg daily in a 2-cohort Simon 2-stage design. Participants had adequate end organ function and no more than 2 prior treatment regimens. Imaging assessments were performed at 8-week intervals. 10 NRAS mutant and 10 BRAF(WT) NRAS(WT) patients were enrolled...
September 16, 2017: Pigment Cell & Melanoma Research
Daniel Zingg, Lukas Sommer
Metastatic cancers, including malignant cutaneous melanoma, have remained an incurable disease for most patients. Major advancements in the fields of targeted therapies and immunotherapies have brought some breakthrough to successfully eradicate metastatic melanoma. However, a large fraction of patients suffer from intrinsic or acquired resistances to these therapeutics and eventually display progressing disease (Hugo et al., 2015; Sharma et al., 2017; Sun et al., 2014). This article is protected by copyright...
September 12, 2017: Pigment Cell & Melanoma Research
Sunil Kalia, Jianhua Zhao, Haishan Zeng, David McLean, Nikiforos Kollias, Harvey Lui
Objective measurements of melanin can provide important information for differentiating melanoma from benign pigmented lesions and in assessing pigmentary diseases. Herein, we evaluate near infrared fluorescence as a possible tool to quantify melanin. Various concentrations of in vitro Sepia melanin in tissue phantoms were measured with near-infrared fluorescence and diffuse reflectance spectroscopy. Similar optic measurements were conducted in vivo on 161 normal human skin sites. Diffuse reflectance spectroscopy was used to quantify the melanin content via Stamatas-Kollias algorithm...
August 14, 2017: Pigment Cell & Melanoma Research
Tara C Gangadhar, Samantha L Savitch, Stephanie S Yee, Wei Xu, Alexander C Huang, Shannon Harmon, David B Lieberman, Devon Soucier, Ryan Fan, Taylor A Black, Jennifer J D Morrissette, Neeraj Salathia, Jill Waters, Shile Zhang, Jonathan Toung, Paul van Hummelen, Jian-Bing Fan, Xiaowei Xu, Ravi K Amaravadi, Lynn M Schuchter, Giorgos C Karakousis, Wei-Ting Hwang, Erica L Carpenter
To determine the feasibility of liquid biopsy for monitoring of advanced melanoma patients, cell-free DNA was extracted from plasma for 25 Stage III/IV patients, most (84.0%) having received previous therapy. DNA concentrations ranged from 0.6 to 390.0 ng/mL (median=7.8 ng/mL), and were positively correlated with tumor burden as measured by imaging (Spearman rho=0.5435, p=0.0363). Using ultra-deep sequencing for a 61-gene panel, one or more mutations were detected in 12 of 25 samples (48.0%), and this proportion did not vary significantly for patients on or off therapy at time of blood draw (52...
August 8, 2017: Pigment Cell & Melanoma Research
Eva Perez Guijarro, Glenn Merlino
The lymphatic vasculature drains fluid and cells from tissues and channels them to the lymph nodes, where they encounter immune cells, constituting a critical component of immune function and tissue fluid homeostasis. It has been hypothesized that the formation of new lymphatics (lymphangiogenesis) in tumors can facilitate cancer cell transport to the lymph node, whose permissive microenvironment would favor their survival before disseminating to other organs. However, lymphatic vessels found inside tumors are generally not functional and surgical resection of sentinel lymph nodes does not improve melanoma patient's outcome (Morton et al...
July 30, 2017: Pigment Cell & Melanoma Research
Yash Chhabra, Hilary X L Yong, Mitchell E Fane, Arish Soogrim, Wen Lim, Dayana Nur Mahiuddin, Reuben S Q Kim, Melinda Ashcroft, Scott A Beatson, Stephen A Ainger, Darren J Smit, Kasturee Jagirdar, Graeme J Walker, Richard A Sturm, Aaron G Smith
A SNP within intron4 of the Interferon Regulatory Factor4 (IRF4) gene, rs12203592*C/T has been independently associated with pigmentation and age-specific effects on nevus count in European-derived populations. We have characterised the cis-regulatory activity of this intronic region and using human foreskin-derived melanoblast strains we have explored the correlation between IRF4 rs12203592 homozygous C/C and T/T genotypes with TYR enzyme activity, supporting its association with pigmentation traits. Further, higher IRF4 protein levels directed by the rs12203592*C allele were associated with increased basal proliferation but decreased cell viability following UVR, an etiological factor in melanoma development...
July 29, 2017: Pigment Cell & Melanoma Research
Julie Charles, Laurence Chaperot, Bruno Revol, Marine Baudin, Stephane Mouret, Agnes Hamon, Marie-Therese Leccia, Joel Plumas, Caroline Aspord
The advent of immune-checkpoint blockers and targeted therapies has changed the outcome of melanoma. However, many patients experience relapses, emphasizing the need for predictive and prognostic biomarkers. We developed a strategy based on plasmacytoid dendritic cells (pDCs) loaded with melanoma-tumor antigens that allows eliciting highly efficient antitumor T-cell responses. We used it to investigate antitumor T-cell functionality in peripheral blood mononuclear cells and tumor-infiltrating lymphocytes from melanoma patients...
July 25, 2017: Pigment Cell & Melanoma Research
Andrew E Aplin
No abstract text is available yet for this article.
September 2017: Pigment Cell & Melanoma Research
Zalfa A Abdel-Malek
No abstract text is available yet for this article.
September 2017: Pigment Cell & Melanoma Research
John A D'Orazio
No abstract text is available yet for this article.
September 2017: Pigment Cell & Melanoma Research
Hannah E Seberg, Eric Van Otterloo, Robert A Cornell
MITF governs multiple steps in the development of melanocytes, including specification from neural crest, growth, survival, and terminal differentiation. In addition, the level of MITF activity determines the phenotype adopted by melanoma cells, whether invasive, proliferative, or differentiated. However, MITF does not act alone. Here, we review literature on the transcription factors that co-regulate MITF-dependent genes. ChIP-seq studies have indicated that the transcription factors SOX10, YY1, and TFAP2A co-occupy subsets of regulatory elements bound by MITF in melanocytes...
September 2017: Pigment Cell & Melanoma Research
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