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https://www.readbyqxmd.com/read/28938534/targeting-of-the-mapk-and-akt-pathways-in-conjunctival-melanoma-shows-potential-synergy
#1
Jinfeng Cao, Renier C Heijkants, Aart G Jochemsen, Mehmet Dogrusöz, Mark J de Lange, Pieter A van der Velden, Sjoerd H van der Burg, Martine J Jager, Robert M Verdijk
PURPOSE: Conjunctival melanoma (CM) is a rare but lethal form of cancer. Similar to cutaneous melanoma, CM frequently carries activating mutations in BRAF and NRAS. We studied whether CM as well as conjunctival benign and premalignant melanocytic lesions express targets in the mitogen-activated protein kinase (MAPK) and AKT pathways, and whether specific inhibitors can suppress CM growth in vitro. METHODS: 131 conjunctival lesions obtained from 129 patients were collected...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28935960/combined-activation-of-map-kinase-pathway-and-%C3%AE-catenin-signaling-cause-deep-penetrating-nevi
#2
Iwei Yeh, Ursula E Lang, Emeline Durieux, Meng Kian Tee, Aparna Jorapur, A Hunter Shain, Veronique Haddad, Daniel Pissaloux, Xu Chen, Lorenzo Cerroni, Robert L Judson, Philip E LeBoit, Timothy H McCalmont, Boris C Bastian, Arnaud de la Fouchardière
Deep penetrating nevus (DPN) is characterized by enlarged, pigmented melanocytes that extend through the dermis. DPN can be difficult to distinguish from melanoma but rarely displays aggressive biological behavior. Here, we identify a combination of mutations of the β-catenin and mitogen-activated protein kinase pathways as characteristic of DPN. Mutations of the β-catenin pathway change the phenotype of a common nevus with BRAF mutation into that of DPN, with increased pigmentation, cell volume and nuclear cyclin D1 levels...
September 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28925002/verrucous-epidermal-nevus-a-misleading-diagnosis-for-28-years
#3
Jorge Ocampo-Garza, Nilton Gioia Di Chiacchio, Eckart Haneke, Nilton Di Chiacchio, Leandro Fonseca Noriega
Epidermal nevi (EN) are hamartomas of the skin that result from mosaic post-zygotic mutations. There are several variants of EN, the verrucous epidermal nevus (VEN) being the most common. EN can be further subdivided into epidermolytic and nonepidermolytic, important since in contrast with nonepidermolytic EN, epidermolytic EN occurs sporadically (not heritable), and it is not associated with extracutaneous abnormalities. This article is protected by copyright. All rights reserved.
September 19, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28903138/improvement-of-genetic-testing-for-cutaneous-melanoma-in-countries-with-low-to-moderate-incidence-the-rule-of-2-vs-the-rule-of-3
#4
Juliette Delaunay, Ludovic Martin, Brigitte Bressac-de Paillerets, Gerard Duru, Olivier Ingster, Luc Thomas
Importance: Genetic testing for melanoma-prone mutation in France, a country with low to moderate incidence of melanoma, is proposed in cases with 2 invasive cutaneous melanomas and/or related cancers in the same patient, or in first- or second-degree relatives (rule of 2). In preclinical studies, these rules led to disclosure of mutation(s) in more than 10% of these families, the threshold widely accepted to justify genetic testing for cancers. Objective: To reconsider these criteria in a general population testing of patients...
September 13, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28902335/en-face-optical-coherence-tomography-angiography-imaging-versus-fundus-photography-in-the-measurement-of-choroidal-nevi
#5
Michele D Lee, Georgia Kaidonis, Alice Y Kim, Ryan A Shields, Theodore Leng
BACKGROUND AND OBJECTIVES: Choroidal nevi are common benign intraocular tumors with a small risk of malignant transformation. This retrospective study investigates the use of en face spectral-domain optical coherence tomography angiography (SD-OCTA) in determining the clinical features and measurement of choroidal nevi. PATIENTS AND METHODS: Patients with choroidal nevi were imaged with both OCTA and a fundus photography device. Greatest longitudinal dimension (GLD), perpendicular dimension (PD), and the GLD/PD ratio were assessed on each device...
September 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28895292/pathology-and-genomics-of-pediatric-melanoma-a-critical-reexamination-and-new-insights
#6
REVIEW
Armita Bahrami, Raymond L Barnhill
The clinicopathologic features of pediatric melanoma are distinct from those of the adult counterpart. For example, most childhood melanomas exhibit a uniquely favorable biologic behavior, save for those arising in large/giant congenital nevi. Recent studies suggest that the characteristically favorable biologic behavior of childhood melanoma may be related to extreme telomere shortening and dysfunction in the cancer cells. Herein, we review the genomic profiles that have been defined for the different subtypes of pediatric melanoma and particularly emphasize the potential prognostic value of telomerase reverse transcriptase alterations for these tumors...
September 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28890988/the-changing-landscape-of-dermatology-practice-melanoma-and-pump-probe-laser-microscopy
#7
REVIEW
Charles J Puza, Paul J Mosca
To present current melanoma diagnosis, staging, prognosis, and treatment algorithms and how recent advances in laser pump-probe microscopy will fill in the gaps in our clinical understanding. Expert opinion and significantly cited articles identified in SCOPUS were used in conjunction with a pubmed database search on Melanoma practice guidelines from the last 10 years. Significant advances in melanoma treatment have been made over the last decade. However, proper treatment algorithm and prognostic information per melanoma stage remain controversial...
September 11, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28886808/assessing-skin-cancer-using-epidermal-genetic-information-retrieved-by-adhesive-patch-skin-surface-sampling
#8
REVIEW
Nayoung Lee, Alon Scope, Harold Rabinovitz
The detection of melanoma can be challenging. Many patients have clinically equivocal lesions in cosmetically sensitive areas or have multiple suspicious lesions. Epidermal genetic information retrieval is a noninvasive diagnostic method involving the application of adhesive tape onto the skin's surface to recover genomic material from the epidermis. This genomic material can then be used in assays to determine gene expression profiles. Studies have shown the potential of this technology to aid clinicians in differentiating between melanomas and nevi...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28886807/proteomic-mass-spectrometry-imaging-for-skin-cancer-diagnosis
#9
REVIEW
Rossitza Lazova, Erin H Seeley
Mass spectrometry imaging can be successfully used for skin cancer diagnosis, particularly for the diagnosis of challenging melanocytic lesions. This method analyzes proteins within benign and malignant melanocytic tumor cells and, based on their differences, which constitute a unique molecular signature of 5 to 20 proteins, can render a diagnosis of benign nevus versus malignant melanoma. Mass spectrometry imaging may assist in the differentiation between metastases and nevi as well as between proliferative nodules in nevi and melanoma arising in a nevus...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28886799/mole-mapping-for-management-of-pigmented-skin-lesions
#10
REVIEW
Juliana Berk-Krauss, David Polsky, Jennifer A Stein
Identifying new or changing melanocytic lesions, particularly in patients with numerous or atypical nevi, can be challenging. Total-body photography and sequential digital dermoscopy imaging, together known as digital follow-up, are 2 prominent forms of noninvasive imaging technology used in mole mapping that have been found to improve diagnostic accuracy, detect earlier-stage melanomas, and reduce costs. Digital follow-up, in combination with direct-to-consumer applications and teledermatology, is already revolutionizing the ways in which physicians and patients participate in melanoma surveillance and will likely continue to enhance early detection efforts...
October 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/28870692/distinct-patterns-of-acral-melanoma-based-on-site-and-relative-sun-exposure
#11
Alexandra M Haugh, Bin Zhang, Victor L Quan, Erin M Garfield, Jeffrey A Bubley, Emily Kudalkar, Anna Elisa Verzi, Kara Walton, Timothy VandenBoom, Emily A Merkel, Christina Y Lee, Timothy Tan, Maria Cristina Isales, Betty Y Kong, Alexander T Wenzel, Christopher G Bunick, Jaehyuk Choi, Jeffrey Sosman, Pedram Gerami
Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n=21), volar (n=9), and subungual/interdigital (n=13) acral skin as well as acral nevi (n=24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared to volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (p=...
September 1, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28864306/a-meta-analysis-of-nevus-associated-melanoma-prevalence-and-practical-implications
#12
REVIEW
Riccardo Pampena, Athanassios Kyrgidis, Aimilios Lallas, Elvira Moscarella, Giuseppe Argenziano, Caterina Longo
The reported prevalence of nevus-associated melanoma varies substantially. We performed a systematic review and meta-analysis to determine the incidence and prevalence of this disease; we also performed subanalyses considering age, tumor thickness, and nevus-type classification. In 38 observational cohort and case-control studies, 29.1% of melanomas likely arose from a preexisting nevus and 70.9% de novo. Any given melanoma was 64% less likely to be nevus-associated than de novo (risk ratio 0.36, 95% confidence interval [CI] 0...
August 22, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28862771/oral-melanoma-and-other-pigmentations-when-to-biopsy
#13
REVIEW
M Lambertini, A Patrizi, P A Fanti, B Melotti, U Caliceti, C Magnoni, C Misciali C, C Baraldi, G M Ravaioli, E Dika
Oral pigmentations (OPs) are often neglected, although a meticulous examination of the oral cavity is important not only in the diagnosis of oral melanoma, but also for the detection of important clinical findings that may indicate the presence of a systemic disease. OPs may be classified into two major groups on the basis of their clinical appearance: focal and diffuse pigmentations, even though this distinction may not appear so limpid in some cases. The former include amalgam tattoo, melanocytic nevi, melanoacanthoma, melanosis, while the latter include physiological/racial pigmentations, smoker's melanosis, drug induced hyperpigmentations, post-inflammatory hyperpigmentations, and OPs associated with systemic diseases...
September 1, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28852061/cd271-determines-migratory-properties-of-melanoma-cells
#14
Josefine Radke, Florian Roßner, Torben Redmer
Melanoma cell expression of the nerve growth factor receptor CD271 is associated with stem-like properties. However, the contributing role of the receptor in melanoma cell migration is elusive. Here, we explored extracranial (skin, soft tissue, lymph node and liver, n = 13) and matched brain metastases (BM, n = 12) and observed a heterogeneous distribution of phenotypically distinct subsets of CD271(+) cells. In addition, we observed that CD271 expression gradually rises along with melanoma progression and metastasis by exploration of publicly available expression data of nevi, primary melanoma (n = 31) and melanoma metastases (n = 54)...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28843749/evaluation-of-expression-of-genes-cadm1-twist1-and-cdh1-by-immunohistochemestry-in-melanocytic-lesions
#15
Karina Munhoz de Paula Alves Coelho, Jaqueline Stall, Hercílio Fronza Júnior, Rodrigo Blasius, Paulo Henrique Condeixa de França
AIM: Malignant melanoma is an aggressive disease and its incidence is increasing worldwide. Genetic predisposition and exposure to environmental factors, especially sunlight, are risk factors. Histopathologic distinction between nevi and melanomas can be difficult. It is anticipated that the evaluation of the immunohistochemical expression of some genes could contribute to the differential diagnosis of questionable histologically lesions. The objective of this study was to investigate wether the evaluation of the immunohistochemical expression of genes CADM1, TWIST1 and CDH1 (E-cadherin), that take part in mechanisms of cell adhesion and epithelial-mesenchymal transition, contributes to the differential diagnosis of melanocytic lesions difficult to diagnose...
August 1, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28842324/associations-of-mc1r-genotype-and-patient-phenotypes-with-braf-and-nras-mutations-in-melanoma
#16
Nancy E Thomas, Sharon N Edmiston, Peter A Kanetsky, Klaus J Busam, Anne Kricker, Bruce K Armstrong, Anne E Cust, Hoda Anton-Culver, Stephen B Gruber, Li Luo, Irene Orlow, Anne S Reiner, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, Eloise A Parrish, Honglin Hao, David C Gibbs, Jill S Frank, David W Ollila, Colin B Begg, Marianne Berwick, Kathleen Conway
Associations of MC1R with BRAF mutations in melanoma have been inconsistent between studies. We sought to determine for 1227 participants in the international population-based Genes, Environment and Melanoma (GEM) study whether MC1R and phenotypes were associated with melanoma BRAF/NRAS subtypes. We used logistic regression adjusted by age, sex, and study design features and examined effect modifications. BRAF+ were associated with younger age, blond/light brown hair, increased nevi, and less freckling and NRAS+ with older age relative to WT (BRAF-/NRAS-) melanomas (all P<0...
August 22, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28833506/a-case-of-congenital-lipomatous-overgrowth-vascular-malformations-epidermal-nevi-spinal-skeletal-anomalies-and-or-scoliosis-syndrome-with-lipoatrophy-as-an-important-clinical-manifestation
#17
Ariane Schreiber, Pierre-Olivier Grenier, Isabelle Auger
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies and/or scoliosis syndrome is a PIK3CA-related overgrowth spectrum presenting with congenital, asymmetric, disproportionate overgrowth associated with dysregulated adipose tissue, enlarged bony structures, and mixed primarily truncal vascular malformations. We present this case to raise awareness that very thin body habitus (lipoatrophy) contrasting with areas of overgrowth can be an important clinical feature of this syndrome and, if not recognized, can lead to unnecessary investigations...
August 22, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28830827/germline-variation-at-cdkn2a-and-associations-with-nevus-phenotypes-among-members-of-melanoma-families
#18
Nicholas J Taylor, Nandita Mitra, Alisa M Goldstein, Margaret A Tucker, Marie-Françoise Avril, Esther Azizi, Wilma Bergman, D Timothy Bishop, Brigitte Bressac-de Paillerets, William Bruno, Donato Calista, Lisa A Cannon-Albright, Francisco Cuellar, Anne E Cust, Florence Demenais, David E Elder, Anne-Marie Gerdes, Paola Ghiorzo, Thais C Grazziotin, Johan Hansson, Mark Harland, Nicholas K Hayward, Marko Hocevar, Veronica Höiom, Christian Ingvar, Maria Teresa Landi, Gilles Landman, Alejandra Larre-Borges, Sancy A Leachman, Graham J Mann, Eduardo Nagore, Håkan Olsson, Jane M Palmer, Barbara Perić, Dace Pjanova, Antonia Pritchard, Susana Puig, Nienke van der Stoep, Karin A W Wadt, Linda Whitaker, Xiaohong R Yang, Julia A Newton Bishop, Nelleke A Gruis, Peter A Kanetsky
Germline mutations in the cyclin-dependent kinase inhibitor 2A gene (CDKN2A) are frequently identified among melanoma kindreds, and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2 mm, 5 mm, and atypical nevus counts among blood-related members of melanoma families...
August 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28822558/wilms-tumor-screening-in-diffuse-capillary-malformation-with-overgrowth-and-macrocephaly-capillary-malformation-a-retrospective-study
#19
Caitlin M Peterman, Sophie Vadeboncoeur, John B Mulliken, Steven J Fishman, Marilyn G Liang
BACKGROUND: CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft tissue overgrowth, capillary malformation, and an increased risk for Wilms tumor. OBJECTIVE: To evaluate the frequency of Wilms tumor in patients with 2 similar conditions: diffuse capillary malformation with overgrowth (DCMO) and macrocephaly-capillary malformation (M-CM). METHODS: Culling our Vascular Anomalies Center database, we retrospectively reviewed patients in whom DCMO and M-CM had been diagnosed and who were evaluated between 1998 and 2016 for possible development of Wilms tumor...
August 16, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28809862/gnaq-and-gna11-mutations-and-downstream-yap-activation-in-choroidal-nevi
#20
M J C Vader, M C Madigan, M Versluis, H M Suleiman, G Gezgin, N A Gruis, J J Out-Luiting, W Bergman, R M Verdijk, M J Jager, P A van der Velden
BACKGROUND: Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations. METHODS: We investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions...
September 5, 2017: British Journal of Cancer
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