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familial melanoma

Nicole S Nicholas, Aikaterini Pipili, Michaela S Lesjak, Simon M Ameer-Beg, Jenny L C Geh, Ciaran Healy, Alistair D MacKenzie Ross, Maddy Parsons, Frank O Nestle, Katie E Lacy, Claire M Wells
Cancer cells are thought to use actin rich invadopodia to facilitate matrix degradation. Formation and maturation of invadopodia requires the co-ordained activity of Rho-GTPases, however the molecular mechanisms that underlie the invadopodia lifecycle are not fully elucidated. Previous work has suggested a formation and disassembly role for Rho family effector p-21 activated kinase 1 (PAK1) however, related family member PAK4 has not been explored. Systematic analysis of isoform specific depletion using in vitro and in vivo invasion assays revealed there are differential invadopodia-associated functions...
September 27, 2016: Oncotarget
Amanpreet Kaur, Marie R Webster, Ashani T Weeraratna
Although the clinical landscape of melanoma is improving rapidly, metastatic melanoma remains a deadly disease. Age remains one of the greatest risk factors for melanoma, and patients older than 55 have a much poorer prognosis than younger individuals, even when the data are controlled for grade and stage. The reasons for this disparity have not been fully uncovered, but there is some recent evidence that Wnt signalling may have a role. Wnt signalling is known to have roles both in cancer progression as well as in organismal ageing...
October 20, 2016: British Journal of Cancer
Raksha Rao, Renelle Pointdujour-Lim, Arupa Ganguly, Carol L Shields
PURPOSE: To report a case of unilateral multifocal melanoma in a patient with germ line BRCA-associated protein 1 mutation. METHODS: Case report. RESULTS: A 67-year-old white woman with a family history of lung and liver cancers developed blurred visual acuity of 20/30 in the left eye. She was discovered to have two independent pigmented choroidal melanomas in the macula and superotemporally, both demonstrating overlying subretinal fluid and orange pigment...
October 4, 2016: Retinal Cases & Brief Reports
Anne Vuadens, Simone Ackermann, Fabio Levi, Jean-Luc Bulliard
Switzerland, particularly its western region, has the highest incidence of melanoma in Europe. Although the risk of melanoma increases with sun overexposure during childhood, sun-related knowledge and attitudes of Swiss children are scarcely documented. We report the first investigation of the knowledge of the danger of ultraviolet radiation, attitudes towards a suntan and parental influence of schoolchildren in western Switzerland. All fifth, eighth and eleventh graders (average ages of 9, 12 and 15, respectively) in the 18 primary (fifth grade, n=431) and secondary (eighth and eleventh grades, n=837) public schools of La Chaux-de-Fonds were surveyed during regular school classes...
October 5, 2016: European Journal of Cancer Prevention
F Faião-Flores, D K Alves-Fernandes, P C Pennacchi, S Sandri, A L S A Vicente, C Scapulatempo-Neto, V L Vazquez, R M Reis, J Chauhan, C R Goding, K S Smalley, S S Maria-Engler
BRAF inhibitor (BRAFi) therapy for melanoma patients harboring the V600E mutation is initially highly effective, but almost all patients relapse within a few months. Understanding the molecular mechanisms underpinning BRAFi-based therapy is therefore an important issue. Here we identified a previously unsuspected mechanism of BRAFi resistance driven by elevated Hedgehog (Hh) pathway activation that is observed in a cohort of melanoma patients after vemurafenib treatment. Specifically, we demonstrate that melanoma cell lines, with acquired in vitro-induced vemurafenib resistance, show increased levels of glioma-associated oncogene homolog 1 and 2 (GLI1/GLI2) compared with naïve cells...
October 17, 2016: Oncogene
Tiantian Zhang, Yogesh R Suryawanshi, Dennis H Kordish, Helene M Woyczesczyk, David Jeng, Karim Essani
Neuregulin (NRG), an epidermal growth factor is known to promote the growth of various cell types, including human melanoma cells through ErbB family of tyrosine kinases receptors. Tanapoxvirus (TPV)-encoded protein TPV-15L, a functional mimic of NRG, also acts through ErbB receptors. Here, we show that the TPV-15L protein promotes melanoma proliferation. TPV recombinant generated by deleting the 15L gene (TPVΔ15L) showed replication ability similar to that of wild-type TPV (wtTPV) in owl monkey kidney cells, human lung fibroblast (WI-38) cells, and human melanoma (SK-MEL-3) cells...
October 13, 2016: Virus Genes
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
Karan Rai, Robert Pilarski, Getachew Boru, Muneeb Rehman, Ahmad H Saqr, James B Massengill, Arun Singh, Meghan J Marino, Frederick H Davidorf, Colleen M Cebulla, Mohamed Abdel-Rahman
Uveal melanoma (UM) is the most commonly diagnosed primary intraocular tumor in adults. Familial UM (FUM), defined as two or more family members diagnosed with UM, is rare and estimated at less than 1% of all UM. Currently, BAP1 is the only gene known to contribute significant risk for UM. In this study we aimed to estimate the frequency of BAP1 mutation in FUM and to characterize the family and personal histories of other cancers in these families. We identified 32 families with FUM, including seven families previously reported by our group...
October 8, 2016: Genes, Chromosomes & Cancer
Chen Feng, Wei-Kiat Wee, Huizhi Chen, Li-Teng Ong, Jing Qu, Hui-Foon Tan, Suet-Mien Tan
Kindlins are a small family of 4.1-ezrin-radixin-moesin (FERM)-containing cytoplasmic proteins. Kindlin-3 is expressed in platelets, hematopoietic cells, and endothelial cells. Kindlin-3 promotes integrin activation, clustering and outside-in signaling. Aberrant expression of kindlin-3 was reported in melanoma and breast cancer. Intriguingly, kindlin-3 has been reported to either positively or negatively regulate cancer cell metastasis. In this study, we sought to clarify the expression of kindlin-3 in melanoma cells and its role in melanoma metastasis...
October 7, 2016: Cell Adhesion & Migration
Gaurav Shrivastava, Moisés León-Juárez, Julio García-Cordero, David Eduardo Meza-Sánchez, Leticia Cedillo-Barrón
A complex interplay between pathogen and host determines the immune response during viral infection. A set of cytosolic sensors are expressed by immune cells to detect viral infection. NOD-like receptors (NLRs) comprise a large family of intracellular pattern recognition receptors. Members of the NLR family assemble into large multiprotein complexes, termed inflammasomes, which induce downstream immune responses to specific pathogens, environmental stimuli, and host cell damage. Inflammasomes are composed of cytoplasmic sensor molecules such as NLRP3 or absent in melanoma 2 (AIM2), the adaptor protein ASC (apoptosis-associated speck-like protein containing caspase recruitment domain), and the effector protein procaspase-1...
October 3, 2016: Immunologic Research
Thekkinghat Anantharaman Arvind, Pundi N Rangarajan
Mouse Apolipoprotein L9 (ApoL9) is an understudied cytoplasmic, interferon-inducible protein. The details of its intracellular localization and normal cellular functions are unclear. We report here that ApoL9 localizes to small puncta diffusely distributed in the cytoplasm, as well as to larger granules of varying size and number that are similar to aggresome-like induced structures (ALIS) and contain the autophagy receptor Sqstm1/p62, the autophagosome marker Lc3, and ubiquitin. Transfection of B16F10 mouse melanoma cells stably expressing ApoL9 (B16F10(L9)) with certain liposome-based transfection reagents causes dramatic disturbances in its subcellular distribution...
October 28, 2016: Biochemical and Biophysical Research Communications
Isabel Mérida, Pedro Torres-Ayuso, Antonia Ávila-Flores, Javier Arranz-Nicolás, Elena Andrada, María Tello-Lafoz, Rosa Liébana, Raquel Arcos
Diacylglycerol kinases (DGK) are a family of enzymes that catalyze the transformation of diacylglycerol into phosphatidic acid. In T lymphocytes, DGKα and ζ limit the activation of the PLCγ/Ras/ERK axis, providing a critical checkpoint to inhibit T cell responses. Upregulation of these isoforms limits Ras activation, leading to hypo-responsive, anergic states similar to those caused by tumors. Recent studies have identified DGKα upregulation in tumor lymphocyte infiltrates, and cells from DGKα and ζ deficient mice show enhanced antitumor activity, suggesting that limitation of DAG based signals by DGK is used by tumors to evade immune attack...
September 23, 2016: Advances in Biological Regulation
Qiulian Li, Chao Zhang, Ruichao Chen, Hanzhen Xiong, Fuman Qiu, Shaoyan Liu, Minfen Zhang, Fang Wang, Yu Wang, Xuan Zhou, Guohong Xiao, Xudong Wang, Qingping Jiang
Endometrioid endometrial carcinoma (EEC) is the most common gynecologic malignancy around the world. Epithelial-to-mesenchymal transition (EMT) is a core process during EEC cell invasion. The abnormal expression of the long noncoding RNA metastasis associated lung adenocarcinoma transcript 1 (MALAT1) or miR-200 family members were shown to facilitate EMT in multiple human cancers, but the regulatory mechanism by which MALAT1 and miR-200 act remains unknown. Previous studies have shown that miR-200 family members are enriched in EEC as well as melanoma and some ovarian carcinomas...
September 28, 2016: Cancer Letters
Feng Su, Yifei Chen, Shilin Zhu, Fangfang Li, Shuang Zhao, Lisa Wu, Xiang Chen, Juan Su
Malignant melanoma is the most aggressive type of skin cancer. RAB22A, a member of RAS oncogene family, has been found to be significantly upregulated in multiple human cancers. In the present study, we found that RAB22A mRNA expression was significantly upregulated in melanoma tissues (including 60 primary melanomas and 84 metastatic melanomas) compared to benign nevi (n = 20), which were significantly higher in metastatic melanoma tissues than primary tissues. Immunohistochemistry data further showed that the positive immunoreactivity of RAB22A was detected in 66% (95/144) melanoma tissues, but not in benign nevi...
September 28, 2016: Oncotarget
Leona Rohrbeck, Jia-Nan Gong, Erinna F Lee, Andrew J Kueh, Andreas Behren, Lin Tai, Guillaume Lessene, David C S Huang, Walter D Fairlie, Andreas Strasser, Marco J Herold
A large proportion of melanomas harbour the activating BRAF(V600E) mutation that renders these cells dependent on MAPK signalling for their survival. Although the highly specific and clinically approved BRAF(V600E) kinase inhibitor, PLX4032, induces apoptosis of melanoma cells bearing this mutation, the underlying molecular mechanisms are not fully understood. Here, we reveal that PLX4032-induced apoptosis depends on the induction of the pro-apoptotic BH3-only protein PUMA with a minor contribution of its relative BIM...
September 30, 2016: Cell Death and Differentiation
Martin Hagedorn, Géraldine Siegfried, Katarzyna B Hooks, Abdel-Majid Khatib
Tissue regeneration requires expression of a large, unknown number of genes to initiate and maintain cellular processes such as proliferation, extracellular matrix synthesis, differentiation and migration. A unique model to simulate this process in a controlled manner is the re-growth of the caudal fin of zebrafish after amputation. Within this tissue stem cells differentiate into fibroblasts, epithelial and endothelial cells as well as melanocytes. Many genes implicated in the regeneration process are deregulated in cancer...
September 26, 2016: Oncotarget
C M Madronio, B K Armstrong, C G Watts, C Goumas, R L Morton, A Curtin, S W Menzies, G J Mann, J F Thompson, A E Cust
BACKGROUND: Guidelines recommend that health professionals identify and manage individuals at high risk of developing melanoma, but there is limited population-based evidence demonstrating real-world practices. OBJECTIVE: A population-based, observational study was conducted in the state of New South Wales, Australia to determine doctors' knowledge of melanoma patients' risk and to identify factors associated with better identification and clinical management. METHODS: Data were analysed for 1889 patients with invasive, localised melanoma in the Melanoma Patterns of Care study...
September 27, 2016: Cancer Epidemiology
Anke Ruedel, Mandy Schott, Thomas Schubert, Anja Katrin Bosserhoff
BACKGROUND: The transmembrane receptor family Roundabout (Robo) was described to have an essential role in the developing nervous system. Recent studies demonstrated that Robo3 shows an altered expression in rheumatoid arthritis as well as in melanoma. CONTEXT AND PURPOSE OF THE STUDY: Until today no detailed studies of the two Robo3 isoforms (Robo3A and Robo3B) and their roles in rheumatoid arthritis synovial fibroblasts, respectively malignant melanoma are available...
2016: Cancer Cell International
Hildur Helgadottir, Veronica Höiom
Uveal melanoma (UM) is the most common malignant eye tumor in adults affecting ~7,000 individuals per year worldwide. UM is a rare subtype of melanoma with distinct clinical and molecular features as compared to other melanoma subtypes. UMs lack the most typical cutaneous melanoma-associated mutations (BRAF, NRAS, and NF1) and are instead characterized by a different set of genes with oncogenic or loss-of-function mutations. By next-generation sequencing efforts on UM tumors, several driver genes have been detected...
2016: Application of Clinical Genetics
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