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Melanoma genetics

T Huibertus van Essen, Sake I van Pelt, Inge H G Bronkhorst, Mieke Versluis, Fariba Némati, Cécile Laurent, Gregorius P M Luyten, Thorbald van Hall, Peter J van den Elsen, Pieter A van der Velden, Didier Decaudin, Martine J Jager
INTRODUCTION: Uveal melanoma (UM) with an inflammatory phenotype, characterized by infiltrating leukocytes and increased human leukocyte antigen (HLA) expression, carry an increased risk of death due to metastases. These tumors should be ideal for T-cell based therapies, yet it is not clear why prognostically-infaust tumors have a high HLA expression. We set out to determine whether the level of HLA molecules in UM is associated with other genetic factors, HLA transcriptional regulators, or microenvironmental factors...
2016: PloS One
Rivka Inzelberg, Shira Flash, Eitan Friedman, Esther Azizi
The mechanisms underlying the high prevalence of cutaneous malignant melanoma (CMM) in Parkinson's disease (PD) are unclear, but plausibly involve common pathways. 129Ser-phosphorylated-α-synuclein, a pathological PD hallmark, is abundantly expressed in CMM, but not in normal skin. In inherited PD, PARK genes harbor germline mutations; the same genes are somatically mutated in CMM, or their encoded proteins involved in melanomagenesis. Conversely, genes associated with CMM, affect PD risk. PD/CMM targeted cells share the neural crest origin and melanogenesis capability...
October 19, 2016: Annals of Neurology
Anna V Motorina, Nadezhda V Palkina, Anna V Komina, Tatiana G Ruksha, Ivan P Artyukhov, Vasily V Kozlov
The melanocortin 1 receptor is a Gs protein-coupled receptor implicated in melanogenesis regulation. The receptor gene is highly polymorphic, which accounts for the association of several of its single-nucleotide polymorphisms (SNPs) with an increased risk of melanoma. The present study aimed to evaluate the distribution of melanocortin 1 receptor gene variants R151C, R160W, and D294H within the Russian population of Eastern Siberia and its association with melanoma development. Melanoma patients (n=95) admitted to Krasnoyarsk Territorial Oncological Center and healthy controls (n=334) were enrolled in the study...
October 13, 2016: European Journal of Cancer Prevention
Lezi Chen, Quan Chen, Guosan Deng, Wenbin Xie, Jihong Lian, Mian Wang, Huilan Zhu
Recent studies suggest that forced activation of AMP-activated protein kinase (AMPK) could inhibit melanoma cell proliferation. In this report, we evaluated the anti-melanoma cell activity by a novel small-molecular AMPK activator, GSK621. Treatment of GSK621 decreased survival and proliferation of human melanoma cells (A375, WM-115 and SK-Mel-2 lines), which was accompanied by activation of caspase-3/-9 and apoptosis. Reversely, caspase inhibitors attenuated GSK621-induced cytotoxicity against melanoma cells...
October 14, 2016: Biochemical and Biophysical Research Communications
Beryl Royer-Bertrand, Matteo Torsello, Donata Rimoldi, Ikram El Zaoui, Katarina Cisarova, Rosanna Pescini-Gobert, Franck Raynaud, Leonidas Zografos, Ann Schalenbourg, Daniel Speiser, Michael Nicolas, Laureen Vallat, Robert Klein, Serge Leyvraz, Giovanni Ciriello, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage of tumor-control pairs in 33 samples (24 primary and 9 metastases). Genome-wide, the number of coding mutations was rather low (only 17 variants per tumor on average; range 7-28), thus radically different from cutaneous melanoma, where hundreds of exonic DNA insults are usually detected. Furthermore, no UV light-induced mutational signature was identified...
October 6, 2016: American Journal of Human Genetics
Hui Min Yang, Susan J Hsiao, David F Schaeffer, Chi Lai, Helen E Remotti, David Horst, Mahesh M Mansukhani, Basil A Horst
Anorectal melanoma is a rare disease that carries a poor prognosis. To date, limited genetic analyses confirmed KIT mutations as a recurrent genetic event similar to other mucosal melanomas, occurring in up to 30% of anorectal melanomas. Importantly, a subset of tumors harboring activating KIT mutations have been found to respond to c-Kit inhibitor-based therapy, with improved patient survival at advanced tumor stages. We performed comprehensive targeted exon sequencing analysis of 467 cancer-related genes in a larger series of 15 anorectal melanomas, focusing on potentially actionable variants based on gain- and loss-of-function mutations...
October 14, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Josefa P Alameda, Manuel Navarro, Ángel Ramírez, Angustias Page, Cristian Suárez-Cabrera, Rodolfo Moreno-Maldonado, Jesús M Paramio, M Carmen Fariña, Marcela Del Río, M Jesús Fernández-Aceñero, Ana Bravo, M Llanos Casanova
IKKα plays a mandatory role in keratinocyte differentiation and exerts an important task in non-melanoma skin cancer development. However, it is not fully understood how IKKα exerts these functions. To analyze in detail the role of IKKα in epidermal stratification and differentiation, we have generated tridimensional (3D) cultures of human HaCaT keratinocytes and fibroblasts in fibrin gels, obtaining human skin equivalents that comprise an epidermal and a dermal compartments that resembles both the structure and differentiation of normal human skin...
October 8, 2016: Oncotarget
Xiao-Juan Nie, Wen-Min Liu, Li Zhang
BACKGROUND Cutaneous squamous cell carcinoma (cSCC) is the second most common type of non-melanoma skin cancer (NMSC) globally. The aims of this study were to further systematically clarify the potential association of rs833061 (-460 C>T) and rs1570360 (-1154 G>A), two SNPs of VEGF, with the risk of cSCC and the prognostic impacts on cSCC patients. MATERIAL AND METHODS This hospital-based case-control study analyzed peripheral venous blood collected from 100 cSCC patients and 124 healthy controls, and gathered personal information on patients...
October 12, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Marco Manfredini, Giovanni Pellacani, Lorena Losi, Monia Maccaferri, Aldo Tomasi, Giovanni Ponti
AIM: To evaluate clinical, pathologic and genetic features of desmoplastic melanoma (DM). MATERIALS & METHODS: Analysis of all DM records from 1991 to 2015. RESULTS: The most common location of DMs was the head and neck (69%); median age and follow-up were 60.5 and 7.3 years, respectively. A familial predisposition for DMs and others malignancies was analyzed. Thin Breslow thickness (<4.5 mm) was associated with an intraepidermal component or a previous lentigo maligna, whereas high Breslow thickness (>4...
October 12, 2016: Future Oncology
Jonah D Klein, Michael E Kupferman
BACKGROUND: Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma. METHODS: A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families...
October 11, 2016: Head & Neck
Bo-Ram Lee, Ho Kyung Ko, Ju Hee Ryu, Keum Young Ahn, Young-Ho Lee, Se Jin Oh, Jin Hee Na, Tae Woo Kim, Youngro Byun, Ick Chan Kwon, Kwangmeyung Kim, Jeewon Lee
Efficient delivery of tumor-specific antigens (TSAs) to lymph nodes (LNs) is essential to eliciting robust immune response for cancer immunotherapy but still remains unsolved. Herein, we evaluated the direct LN-targeting performance of four different protein nanoparticles with different size, shape, and origin [Escherichia coli DNA binding protein (DPS), Thermoplasma acidophilum proteasome (PTS), hepatitis B virus capsid (HBVC), and human ferritin heavy chain (hFTN)] in live mice, using an optical fluorescence imaging system...
October 11, 2016: Scientific Reports
Ying Jin, Genevieve Andersen, Daniel Yorgov, Tracey M Ferrara, Songtao Ben, Kelly M Brownson, Paulene J Holland, Stanca A Birlea, Janet Siebert, Anke Hartmann, Anne Lienert, Nanja van Geel, Jo Lambert, Rosalie M Luiten, Albert Wolkerstorfer, J P Wietze van der Veen, Dorothy C Bennett, Alain Taïeb, Khaled Ezzedine, E Helen Kemp, David J Gawkrodger, Anthony P Weetman, Sulev Kõks, Ele Prans, Külli Kingo, Maire Karelson, Margaret R Wallace, Wayne T McCormack, Andreas Overbeck, Silvia Moretti, Roberta Colucci, Mauro Picardo, Nanette B Silverberg, Mats Olsson, Yan Valle, Igor Korobko, Markus Böhm, Henry W Lim, Iltefat Hamzavi, Li Zhou, Qing-Sheng Mi, Pamela R Fain, Stephanie A Santorico, Richard A Spritz
Vitiligo is an autoimmune disease in which depigmented skin results from the destruction of melanocytes, with epidemiological association with other autoimmune diseases. In previous linkage and genome-wide association studies (GWAS1 and GWAS2), we identified 27 vitiligo susceptibility loci in patients of European ancestry. We carried out a third GWAS (GWAS3) in European-ancestry subjects, with augmented GWAS1 and GWAS2 controls, genome-wide imputation, and meta-analysis of all three GWAS, followed by an independent replication...
October 10, 2016: Nature Genetics
Masaki Morishita, Yuki Takahashi, Akihiro Matsumoto, Makiya Nishikawa, Yoshinobu Takakura
For cancer immunotherapy via tumor antigen vaccination in combination with an adjuvant, major challenges include the identification of a particular tumor antigen and efficient delivery of the antigen as well as adjuvant to antigen-presenting cells. In this study, we proposed an efficient exosome-based tumor antigens-adjuvant co-delivery system using genetically engineered tumor cell-derived exosomes containing endogenous tumor antigens and immunostimulatory CpG DNA. Murine melanoma B16BL6 cells were transfected with a plasmid vector encoding a fusion streptavidin (SAV; a protein that binds to biotin with high affinity)-lactadherin (LA; an exosome-tropic protein) protein, yielding genetically engineered SAV-LA-expressing exosomes (SAV-exo)...
October 3, 2016: Biomaterials
Xianfeng Zha, Ling Xu, Shaohua Chen, Lijian Yang, Yikai Zhang, Yuhong Lu, Zhi Yu, Bo Li, Xiuli Wu, Wenjie Zheng, Yangqiu Li
Adoptive immunotherapy with antigen-specific T cells can be effective for treating melanoma and chronic myeloid leukemia (CML). However, to obtain sufficient antigen-specific T cells for treatment, the T cells have to be cultured for several weeks in vitro, but in vitro T cell expansion is difficult to control. Alternatively, the transfer of T cell receptors (TCRs) with defined antigen specificity into recipient T cells may be a simple solution for generating antigen-specific T cells. The objective of this study was to identify CML-associated, antigen-specific TCR genes and generate CML-associated, antigen-specific T cells with T cell receptor (TCR) gene transfer...
October 4, 2016: Oncotarget
(no author information available yet)
The GMR editorial staff was alerted about some manuscripts that were found to be substantially equal. The Publisher and Editor decided to retract these articles in accordance with the recommendations of the Committee on Publication Ethics (COPE). After a thorough investigation, we have strong reason to believe that the peer review process was failure and, after review and contacting the authors, the editors of Genetics and Molecular Research decided to retract these articles. The authors and their institutions were advised of this serious breach of ethics...
September 30, 2016: Genetics and Molecular Research: GMR
Amelia K Smit, David Espinoza, Ainsley J Newson, Rachael L Morton, Georgina Fenton, Lucinda Freeman, Kate Dunlop, Phyllis N Butow, Matthew H Law, Michael G Kimlin, Louise A Keogh, Suzanne J Dobbinson, Judy Kirk, Peter A Kanetsky, Graham J Mann, Anne E Cust
BACKGROUND: Communication of personalised melanoma genomic risk information may improve melanoma prevention behaviours. METHODS: We evaluated the feasibility and acceptability of communicating personalised genomic risk of melanoma to the public, and its preliminary impact on behaviours and psychosocial outcomes. 118 people aged 22-69 years provided a saliva sample and were randomised to the control (non-personalised educational materials), or intervention (personalised booklet presenting melanoma genomic risk as absolute and relative risks and a risk category based on variants in 21 genes, telephone-based genetic counselling, and non-personalised educational materials)...
October 4, 2016: Cancer Epidemiology, Biomarkers & Prevention
Caterina Longo, Giovanni Pellacani
Melanomas are a wide range of tumors that differ in their epidemiology, morphology, genetic profile, and biological behavior. They can be grouped as superficial spreading melanoma, lentigo maligna, and nodular melanoma. Reflectance confocal microscopy is useful for the evaluation of skin lesions that are dermoscopically doubtful by increasing diagnostic accuracy and specificity. This article provides a comprehensive overview of the different confocal main morphologies of distinct melanoma types as a function of the anatomic location of the tumor...
October 2016: Dermatologic Clinics
Eunjung Kim, Vito W Rebecca, Keiran S M Smalley, Alexander R A Anderson
BACKGROUND: One of major issues in clinical trials in oncology is their high failure rate, despite the fact that the trials were designed based on the data from successful equivalent preclinical studies. This is in part due to the intrinsic homogeneity of preclinical model systems and the contrasting heterogeneity of actual patient responses. METHODS: We present a mathematical model-driven framework, phase i (virtual/imaginary) trials, that integrates the heterogeneity of actual patient responses and preclinical studies through a cohort of virtual patients...
November 2016: European Journal of Cancer
Jin Hai Zheng, Jung-Joon Min
Obligate or facultative anaerobic bacteria such as Bifidobacterium, Clostridium, Salmonella, or Escherichia coli specifically colonize and proliferate inside tumor tissues and inhibit tumor growth. Among them, attenuated Salmonella typhimurium (S. typhimurium) has been widely studied in animal cancer models and Phase I clinical trials in human patients. S. typhimurium genes are easily manipulated; thus diverse attenuated strains of S. typhimurium have been designed and engineered as tumor-targeting therapeutics or drug delivery vehicles that show both an excellent safety profile and therapeutic efficacy in mouse models...
September 2016: Chonnam Medical Journal
Wan-Ling Ho, Wen-Ming Hsu, Min-Chuan Huang, Kenji Kadomatsu, Akira Nakagawara
Glycosylation is the most complex post-translational modification of proteins. Altered glycans on the tumor- and host-cell surface and in the tumor microenvironment have been identified to mediate critical events in cancer pathogenesis and progression. Tumor-associated glycan changes comprise increased branching of N-glycans, higher density of O-glycans, generation of truncated versions of normal counterparts, and generation of unusual forms of terminal structures arising from sialylation and fucosylation. The functional role of tumor-associated glycans (Tn, sTn, T, and sLe(a/x)) is dependent on the interaction with lectins...
September 29, 2016: Journal of Hematology & Oncology
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