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https://www.readbyqxmd.com/read/29679610/mutated-mitf-e87r-in-melanoma-enhances-tumor-progression-via-s100a4
#1
Alice Nordlinger, Shani Dror, Abdel Elkahloun, Justine Del Rio, Elisa Stubbs, Tami Golan, Hagar Malcov, Todd D Pricket, Julia C Cronin, Shivang Parikh, Sapir Labes, Laetitia Thomas, Gal Yankovitz, Yuval Tabach, Carmit Levy, Yardena Samuels, Mehdi Khaled
Melanoma, a melanocyte origin neoplasm, is the most lethal type of skin cancer and incidence is increasing. Several familial and somatic mutations have been identified in the gene encoding the melanocyte lineage master regulator, microphthalmia-associated transcription factor (MITF); however, the neoplastic mechanisms of these mutant MITF variants are mostly unknown. Here, by performing unbiased analysis of the transcriptomes in cells expressing mutant MITF, we identified calcium-binding protein S100A4, as a downstream target of MITF-E87R...
April 18, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29673969/rgd-cadherins-and-%C3%AE-2%C3%AE-1-integrin-in-cancer-metastasis-a-dangerous-liaison
#2
REVIEW
J Ignacio Casal, Rubén A Bartolomé
We propose a new cadherin family classification comprising epithelial cadherins (cadherin 17 [CDH17], cadherin 16, VE-cadherin, cadherin 6 and cadherin 20) containing RGD motifs within their sequences. Expression of some RGD cadherins is associated with aggressive forms of cancer during the late stages of metastasis, and CDH17 and VE-cadherin have emerged as critical actors in cancer metastasis. After binding to α2β1 integrin, these cadherins promote integrin β1 activation, and thereby cell adhesion, invasion and proliferation, in liver and lung metastasis...
April 16, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29662661/targeting-oncogenic-ras-by-the-clostridium-perfringens-toxin-tpel
#3
Björn Schorch, Hannah Heni, Nour-Imene Zahaf, Tilman Brummer, Marina Mione, Gudula Schmidt, Panagiotis Papatheodorou, Klaus Aktories
Clostridium perfringens toxin TpeL belongs to the family of large clostridial glycosylating toxins. The toxin causes N-acetylglucosaminylation of Ras proteins at threonine35 thereby inactivating the small GTPases. Here, we show that all main types of oncogenic Ras proteins (H-Ras, K-Ras and N-Ras) are modified by the toxin in vitro and in vivo . Toxin-catalyzed modification of Ras was accompanied by inhibition of the MAP kinase pathway. Importantly, TpeL inhibited the paradoxical activation of the MAP kinase pathway induced by the BRAF inhibitor Vemurafenib in the human melanoma cell line SBCL2...
March 27, 2018: Oncotarget
https://www.readbyqxmd.com/read/29661971/cm-score-a-validated-scoring-system-to-predict-cdkn2a-germline-mutations-in-melanoma-families-from-northern-europe
#4
Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis, Veronica Höiom, Håkan Olsson, Remco van Doorn, Hans F A Vasen, Christi J van Asperen, Olaf M Dekkers, Frederik J Hes
BACKGROUND: Several factors have been reported that influence the probability of a germline CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to estimate this probability, based on a set of clinical features present in the patient and his or her family. METHODS: Five clinical features and their association with CDKN2A mutations were investigated in a training cohort of 1227 Dutch melanoma families (13.7% with CDKN2A mutation) using multivariate logistic regression...
April 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29659923/a-nonsynonymous-variant-in-the-golm1-gene-in-cutaneous-malignant-melanoma
#5
Craig C Teerlink, Chad Huff, Jeff Stevens, Yao Yu, Sheri L Holmen, Mark R Silvis, Kirby Trombetti, Hua Zhao, Douglas Grossman, James M Farnham, Jingran Wen, Julio C Facelli, Alun Thomas, Markus Babst, Scott R Florell, Laurence Meyer, John J Zone, Sancy Leachman, Lisa A Cannon-Albright
Background: Statistically significant linkage of melanoma to chromosome 9q21 was previously reported in a Danish pedigree resource and independently confirmed in Utah high-risk pedigrees, indicating strong evidence that this region contains a melanoma predisposition gene. Methods: Whole-exome sequencing of pairs of related melanoma case subjects from two pedigrees with evidence of 9q21 linkage was performed to identify the responsible predisposition gene. Candidate variants were tested for association with melanoma in an independent set of 454 unrelated familial melanoma case subjects and 396 unrelated cancer-free control subjects from Utah, and 1534 melanoma case subjects and 1146 noncancer control subjects from Texas (MD Anderson) via a two-sided Fisher exact test...
April 11, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29650805/co-targeting-bet-and-mek-as-salvage-therapy-for-mapk-and-checkpoint-inhibitor-resistant-melanoma
#6
Ileabett M Echevarría-Vargas, Patricia I Reyes-Uribe, Adam N Guterres, Xiangfan Yin, Andrew V Kossenkov, Qin Liu, Gao Zhang, Clemens Krepler, Chaoran Cheng, Zhi Wei, Rajasekharan Somasundaram, Giorgos Karakousis, Wei Xu, Jennifer Jd Morrissette, Yiling Lu, Gordon B Mills, Ryan J Sullivan, Miao Benchun, Dennie T Frederick, Genevieve Boland, Keith T Flaherty, Ashani T Weeraratna, Meenhard Herlyn, Ravi Amaravadi, Lynn M Schuchter, Christin E Burd, Andrew E Aplin, Xiaowei Xu, Jessie Villanueva
Despite novel therapies for melanoma, drug resistance remains a significant hurdle to achieving optimal responses. NRAS-mutant melanoma is an archetype of therapeutic challenges in the field, which we used to test drug combinations to avert drug resistance. We show that BET proteins are overexpressed in NRAS-mutant melanoma and that high levels of the BET family member BRD4 are associated with poor patient survival. Combining BET and MEK inhibitors synergistically curbed the growth of NRAS -mutant melanoma and prolonged the survival of mice bearing tumors refractory to MAPK inhibitors and immunotherapy...
April 12, 2018: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/29623503/barriers-and-facilitators-to-melanoma-prevention-and-control-behaviors-among-at-risk-children
#7
Yelena P Wu, Bridget G Parsons, Ryan Mooney, Lisa G Aspinwall, Kristin Cloyes, Jennifer L Hay, Wendy Kohlmann, Douglas Grossman, Sancy A Leachman
Melanoma prevention is essential for children who are at elevated risk for the disease due to family history. However, children who carry a familial risk for the disease do not optimally adhere to recommended melanoma preventive behaviors. The current study sought to identify perceived barriers to and facilitators of children's engagement in melanoma preventive behaviors among children at elevated risk for melanoma due to family history of the disease (i.e., having a parent with a history of melanoma) from both parents' and childrens' perspectives...
April 6, 2018: Journal of Community Health
https://www.readbyqxmd.com/read/29617808/novel-aspects-of-the-assembly-and-activation-of-inflammasomes-with-focus-on-the-nlrc4-inflammasome
#8
William G Fusco, Joseph A Duncan
Inflammasomes are multiprotein structures that activate caspase-1, support secretion of pro-inflammatory cytokines, IL-1β and IL-18, and also induce inflammatory programmed cell death, termed pyoptosis. Inflammasomes are activated in response to the detection of endogenous and microbially derived danger signals and are mediated by several classes of inflammasome-forming sensors. These include several nucleotide-binding proteins of the NOD-like receptor (NLR) family, including NLRP1, NLRP3 and NLRC4, as well as the proteins Absent in Melanoma 2 (AIM2) and Pyrin...
February 14, 2018: International Immunology
https://www.readbyqxmd.com/read/29617518/prevalence-and-correlates-of-skin-cancer-screening-among-indoor-tanners-and-nontanners
#9
Carolyn J Heckman, Elizabeth Handorf, Melissa V Auerbach
Importance: The US Food and Drug Administration recommends that indoor tanners (ITs) be screened regularly for skin cancer (SC). Objective: To investigate the association between indoor tanning and SC screening. Design, Setting, and Participants: The 2015 National Health Interview Survey was a multistage, clustered, cross-sectional design with 30 352 US adults participating. The response rate for the sample adult data used in this study was 55...
April 4, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29615030/systems-biology-analysis-of-mitogen-activated-protein-kinase-inhibitor-resistance-in-malignant-melanoma
#10
Helma Zecena, Daniel Tveit, Zi Wang, Ahmed Farhat, Parvita Panchal, Jing Liu, Simar J Singh, Amandeep Sanghera, Ajay Bainiwal, Shuan Y Teo, Frank L Meyskens, Feng Liu-Smith, Fabian V Filipp
BACKGROUND: Kinase inhibition in the mitogen activated protein kinase (MAPK) pathway is a standard therapy for cancer patients with activating BRAF mutations. However, the anti-tumorigenic effect and clinical benefit are only transient, and tumors are prone to treatment resistance and relapse. To elucidate mechanistic insights into drug resistance, we have established an in vitro cellular model of MAPK inhibitor resistance in malignant melanoma. METHODS: The cellular model evolved in response to clinical dosage of the BRAF inhibitor, vemurafenib, PLX4032...
April 4, 2018: BMC Systems Biology
https://www.readbyqxmd.com/read/29600494/duox2-induced-innate-immune-responses-in-the-respiratory-epithelium-and-intranasal-delivery-of-duox2-dna-using-polymer-that-mediates-immunization
#11
REVIEW
Yung Jin Jeon, Hyun Jik Kim
Respiratory mucosa especially nasal epithelium is well known as the first-line barrier of air-borne pathogens. High levels of reactive oxygen species (ROS) are detected in in vitro cultured human epithelial cells and in vivo lung. With identification of NADPH oxidase (Nox) system of respiratory epithelium, the antimicrobial role of ROS has been studied. Duox2 is the most abundant Nox isoform and produces the regulated amount of ROS in respiratory epithelium. Duox2-derived ROS are involved in antiviral innate immune responses but more studies are needed to verify the mechanism...
March 30, 2018: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29596556/uveal-melanoma-associated-with-myotonic-dystrophy-a-report-of-6-cases
#12
Lauren A Dalvin, Carol L Shields, Jose S Pulido, Kareem Sioufi, Victoria Cohen, Jerry A Shields
Importance: Patients with myotonic dystrophy (MD) have an increased risk of malignancy including uveal melanoma. This case series further explores the association between these 2 diseases. Objective: To describe a cohort of patients with uveal melanoma associated with MD, including a case of iris melanoma, and MD-associated uveal melanoma in relatives. Design, Setting, and Participants: Retrospective case series at 3 tertiary referral centers (Wills Eye Hospital, Philadelphia, Pennsylvania; Mayo Clinic, Rochester, Minnesota; and Moorsfields Eye Hospital, London, England), between January 1, 2000, and August 31, 2017...
March 29, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29593251/targeting-mdmx-and-pkc%C3%AE-to-improve-current-uveal-melanoma-therapeutic-strategies
#13
R C Heijkants, M Nieveen, K C 't Hart, A F A S Teunisse, A G Jochemsen
Uveal melanoma (UM) is the most frequent ocular cancer in adults, accounting for ~5% of the total melanoma incidence. Although the primary tumor is well treatable, patients frequently develop metastases for which no curative therapy exists. Highly activated protein kinase C (PKC) is a common feature of UM and has shown potential as therapeutic intervention for UM patients. Unfortunately, PKC inhibition as single treatment appears to have only limited clinical benefit. Combining PKC inhibition with activation of p53, which is rarely mutated in UM, by MDM2 inhibitors has shown promising results in vitro and in vivo...
March 29, 2018: Oncogenesis
https://www.readbyqxmd.com/read/29565994/molecular-modeling-dynamics-simulations-and-binding-efficiency-of-berberine-derivatives-a-new-group-of-raf-inhibitors-for-cancer-treatment
#14
Parham Jabbarzadeh Kaboli, Patimah Ismail, King-Hwa Ling
RAF kinases are a family of enzymes in the MAP kinase pathway that contribute to the development of different types of cancer. BRAF is the most important member of RAF kinases. BRAF mutations have been detected in 7% of all cancers and 66% of melanomas; as such, the FDA has approved a few BRAF inhibitor drugs to date. However, BRAF can activate CRAF leading to resistance to BRAF inhibitors. Berberine (BBR) is an alkaloid that is widely distributed in different plant species. Several studies have been carried out on the anti-cancer effects of BBR but direct targets of BBR are unknown...
2018: PloS One
https://www.readbyqxmd.com/read/29563979/melanoma-antigen-family-a4-protein-produced-by-transgenic-silkworms-induces-antitumor-immune-responses
#15
Yoko Motokawa, Michifumi Kokubo, Nobuo Kuwabara, Ken-Ichiro Tatematsu, Hideki Sezutsu, Hideyuki Takahashi, Koichi Sakakura, Kazuaki Chikamatsu, Shigeki Takeda
Recent clinical trials with the aim of developing tumor antigen (TA)-specific cancer vaccines against a number of malignancies have focused on the identification of TAs presented by tumor cells and recognized by T cells. In the present study, the TA melanoma antigen family A4 (MAGE-A4) protein was produced using a transgenic (TG) silkworm system. Using in vitro stimulation, it was subsequently determined whether MAGE-A4 protein induced MAGE-A4-specific T cells from peripheral blood mononuclear cells of healthy donors...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29562816/family-history-of-cancer-as-surrogate-predictor-for-immunotherapy-with-anti-pd1-pd-l1-agents-preliminary-report-of-the-fami-l1-study
#16
Alessio Cortellini, Melissa Bersanelli, Sebastiano Buti, Elisabetta Gambale, Francesco Atzori, Federica Zoratto, Alessandro Parisi, Davide Brocco, Annagrazia Pireddu, Katia Cannita, Daniela Iacono, Maria R Migliorino, Teresa Gamucci, Michele De Tursi, Tina Sidoni, Maria Tiseo, Maria Michiara, Anselmo Papa, Gesuino Angius, Silverio Tomao, Maria C Fargnoli, Clara Natoli, Corrado Ficorella
AIM: Tumors related to hereditary susceptibility seem to have an immunosensitive phenotype. MATERIALS & METHODS: We conducted a multicenter retrospective study, to investigate if family history of cancer, multiple neoplasms and early onset of cancer could be related to clinical outcomes of anti-PD-1/PD-L1 therapy. Activity and efficacy data of 211 advanced cancer patients (kidney, non-small-cell lung cancer, melanoma, urothelium, colorectal and HeN), treated at seven Italian centers with anti-PD-1/PD-L1 agents, were analyzed...
March 22, 2018: Immunotherapy
https://www.readbyqxmd.com/read/29554022/clinical-implications-of-real-time-integrative-sequencing-in-management-of-patients-with-suspected-germline-bap1-mutations
#17
Shayan Sengupta, Angela C Weyand, Santhosh A Upadhyaya, Yi-Mi Wu, Dan R Robinson, Rajen J Mody
Germline mutation of BRCA-associated protein-1 has been implicated in the development of tumor predisposition syndrome and high risk for malignant mesothelioma, lung adenocarcinoma, uveal melanoma, and cutaneous melanoma. Here, we present the case of a patient with recurrent metastatic melanoma who was found to have germline BAP1 and somatic BRAF mutation by clinical genomic sequencing. Detection of a germline mutation prompted screening for other cancers and surveillance in family members. Prospective integrative sequencing for pediatric cancer patients may identify pathogenic germline mutations and may improve outcomes and treatment-related morbidity by early diagnosis of malignancy...
March 16, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29545965/dual-specificity-phosphatase-6-dusp6-a-review-of-its-molecular-characteristics-and-clinical-relevance-in-cancer
#18
Muhammad Khairi Ahmad, Nur Ainina Abdollah, Nurul Husna Shafie, Narazah Mohd Yusof, Siti Razila Abdul Razak
Mitogen-activated protein kinases (MAPKs) are the main regulators of cellular proliferation, growth, and survival in physiological or pathological conditions. Aberrant MAPK signaling plays a pivotal role in carcinogenesis, which leads to development and progression of human cancer. Dual-specificity phosphatase 6 (DUSP6), a member of the MAPK phosphatase family, interacts with specifically targeted extracellular signal-regulated kinase 1/2 via negative feedback regulation in the MAPK pathway of mammalian cells...
February 2018: Cancer Biology & Medicine
https://www.readbyqxmd.com/read/29543703/cdkn2a-germline-alterations-in-melanoma-patients-with-personal-or-familial-history-of-pancreatic-cancer
#19
Blanca De Unamuno, Zaida García-Casado, José Bañuls, Celia Requena, José Antonio Lopez-Guerrero, Eduardo Nagore
CDKN2A germline mutations increase the risk of melanoma development and are present in 20 and 10% of familial and multiple melanoma cases, respectively. Pancreatic cancer has been associated with CDKN2A in some populations and, accordingly, its presence in first-degree or second-degree relatives of a melanoma patient is considered as a criterion for genetic testing. In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases...
March 14, 2018: Melanoma Research
https://www.readbyqxmd.com/read/29542807/unscheduled-visits-of-patients-with-familial-melanoma-to-a-pigmented-lesion-clinic-evaluation-of-patients-characteristics-and-suspicious-lesions
#20
Rania Nabil, Elsemieke Plasmeijer, Remco van Doorn, Wilma Bergman, Nicole A Kukutsch
Approximately 10% of all melanomas occur in subjects with a family history of melanoma. This retrospective follow-up study investigated the characteristics of patients with familial melanoma who made unscheduled visits to our pigmented lesions clinic, and the diagnosis of excised lesions. A total of 110 out of 1,267 (9%) patients made at least one unscheduled visit between May 2011 and February 2016. Histopathology was taken from 59 patients. Thirty-four naevi, 7 melanomas and 3 basal cell carcinomas were detected...
March 15, 2018: Acta Dermato-venereologica
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