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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
#1
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/28864306/a-meta-analysis-of-nevus-associated-melanoma-prevalence-and-practical-implications
#2
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/28843749/evaluation-of-expression-of-genes-cadm1-twist1-and-cdh1-by-immunohistochemestry-in-melanocytic-lesions
#3
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/28748967/melanocytic-nevi-and-non-neoplastic-hyperpigmentations
#4
C Clemente
This is the first of three chapters that will be progressively published on Pathologica as updating activity of the Italian Study Group of Dermatopathology (GISD), Italian Society of Pathology and Cytology (SIAPeC IAP). The first chapter concerns non-neoplastic hyperpigmented skin lesions and nevi, the second will address the topics of dysplastic nevus, borderline and low malignant potential melanocytic proliferations and the third melanoma in its variants and differential diagnoses with a supplement on the immunohistochemistry and molecular support to diagnostic and prognostic definition of nevi and melanomas...
June 2017: Pathologica
https://www.readbyqxmd.com/read/28659278/pathologists-diagnosis-of-invasive-melanoma-and-melanocytic-proliferations-observer-accuracy-and-reproducibility-study
#5
MULTICENTER STUDY
Joann G Elmore, Raymond L Barnhill, David E Elder, Gary M Longton, Margaret S Pepe, Lisa M Reisch, Patricia A Carney, Linda J Titus, Heidi D Nelson, Tracy Onega, Anna N A Tosteson, Martin A Weinstock, Stevan R Knezevich, Michael W Piepkorn
Objective To quantify the accuracy and reproducibility of pathologists' diagnoses of melanocytic skin lesions.Design Observer accuracy and reproducibility study.Setting 10 US states.Participants Skin biopsy cases (n=240), grouped into sets of 36 or 48. Pathologists from 10 US states were randomized to independently interpret the same set on two occasions (phases 1 and 2), at least eight months apart.Main outcome measures Pathologists' interpretations were condensed into five classes: I (eg, nevus or mild atypia); II (eg, moderate atypia); III (eg, severe atypia or melanoma in situ); IV (eg, pathologic stage T1a (pT1a) early invasive melanoma); and V (eg, ≥pT1b invasive melanoma)...
June 28, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28562437/use-of-skin-biopsies-among-dermatologists
#6
David A Weinstein, Sasank Konda, Brett M Coldiron
BACKGROUND: Skin biopsies are essential to establish a diagnosis in many skin diseases. Utilization has been increasing rapidly and represents a significant health care cost. There are no benchmarks or baselines to guide the practice of skin biopsies. OBJECTIVE: To create a reference data set of biopsy behavior among dermatologists. METHODS: Five hundred eighty-eight dermatologists belonging to the American Dermatological Association (ADA) were surveyed...
May 25, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28480118/predictive-nuclear-chromatin-characteristics-of-melanoma-and-dysplastic-nevi
#7
Matthew G Hanna, Chi Liu, Gustavo K Rohde, Rajendra Singh
BACKGROUND: The diagnosis of malignant melanoma (MM) is among the diagnostic challenges pathologists encounter on a routine basis. Melanoma may arise in patients with preexisting dysplastic nevi (DN) and it is still the cause of 1.7% of all cancer-related deaths. Melanomas often have overlapping histological features with DN, especially those with severe dysplasia. Nucleotyping for identifying nuclear textural features can analyze nuclear DNA structure and organization. The aim of this study is to differentiate MM and DN using these methodologies...
2017: Journal of Pathology Informatics
https://www.readbyqxmd.com/read/28436290/topography-of-protein-kinase-c-%C3%AE-ii-in-benign-and-malignant-melanocytic-lesions
#8
Konstanin Krasagakis, Eleftheria Tsentelierou, Gregory Chlouverakis, Efstathios N Stathopoulos
BACKGROUND: Protein kinase C βII promotes melanogenesis and affects proliferation of melanocytic cells but is frequently absent or decreased in melanoma cells in vitro. OBJECTIVE: To investigate PKC-βII expression and spatial distribution within a lesion in various benign and malignant melanocytic proliferations. METHODS: Expression of PKC-βII was semiquantitatively assessed in the various existing compartments (intraepidermal [not nested], junctional [nested], and dermal) of benign (n = 43) and malignant (n = 28) melanocytic lesions by immunohistochemistry...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28389767/a-new-pot1-germline-mutation-expanding-the-spectrum-of-pot1-associated-cancers
#9
Tremika Le-Shan Wilson, Namita Hattangady, Antonio Marcondes Lerario, Carmen Williams, Erika Koeppe, Shane Quinonez, Jenae Osborne, Kelly B Cha, Tobias Else
Melanomas are associated with several hereditary conditions. We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant in POT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access...
April 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28332777/diagnostic-performance-of-the-melafind-device-in-a-real-life-clinical-setting
#10
Christine Fink, Claudia Jaeger, Katharina Jaeger, Holger A Haenssle
BACKGROUND: MelaFind is a multispectral computer vision system intended to -provide additional information on melanocytic lesions suspected of being melanoma by -objectively assessing their three-dimensional morphology. OBJECTIVES: Analysis of the diagnostic performance of MelaFind in a real-life clinical setting. PATIENTS AND METHODS: In this observational study, 360 pigmented skin lesions (PSL) in 111 patients were assessed by office-based dermatologists using MelaFind...
April 2017: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/28331853/melanomas-and-dysplastic-nevi-differ-in-epidermal-cd1c-dendritic-cell-count
#11
Grzegorz Dyduch, Katarzyna Ewa Tyrak, Anna Glajcar, Joanna Szpor, Magdalena Ulatowska-Białas, Krzysztof Okoń
Background. Dendritic cells could be involved in immune surveillance of highly immunogenic tumors such as melanoma. Their role in the progression melanocytic nevi to melanoma is however a matter of controversy. Methods. The number of dendritic cells within epidermis, in peritumoral zone, and within the lesion was counted on slides immunohistochemically stained for CD1a, CD1c, DC-LAMP, and DC-SIGN in 21 of dysplastic nevi, 27 in situ melanomas, and 21 invasive melanomas. Results. We found a significant difference in the density of intraepidermal CD1c+ cells between the examined lesions; the mean CD1c cell count was 7...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28266027/risks-of-unregulated-use-of-alpha-melanocyte-stimulating-hormone-analogues-a-review
#12
REVIEW
Louis Habbema, Anne Berthe Halk, Martino Neumann, Wilma Bergman
Recently, the unregulated use of untested synthetic alpha-melanocyte-stimulating hormone (α-MSH) analogues, commonly known as melanotan I and II, appears to have increased. These analogues are primarily used for their tan-stimulating effects. Dermatologists see many patients in their clinic who tan. This review provides an overview of the risks of the unregulated use of these substances. Other topics discussed here include the history and safety of afamelanotide, which is the only α-MSH analogue that is approved for use in a limited number of medical indications...
March 7, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28255385/reelin-and-its-receptors-vldlr-and-apoer2-in-melanocytic-nevi
#13
A Mihail, G Coman, F Staniceanu, L Coman, S Zurac, O A Coman
Reelin is an extracellular signaling protein synthesized by Cajal-Retius cells in utero and early after birth, its presence being signaled in adult life too. Reelin acts on its receptors, VLDLR and ApoER2, acting on cytoskeleton, controlling migration and subsequently positioning and stabilizing the cortical neurons. We investigated the reelin presence and its receptors, VLDLR and ApoER2, in melanocytic nevi considering the neural crest origin of the nevus cells and their migration into skin during embrionary period...
January 2017: Journal of Medicine and Life
https://www.readbyqxmd.com/read/28223743/dermoscopic-features-of-small-medium-and-large-sized-congenital-melanocytic-nevi
#14
Fatma Pelin Cengiz, Nazan Emiroglu, Dilek Biyik Ozkaya, Ozlem Su, Nahide Onsun
BACKGROUND: Congenital melanocytic nevi (CMN) are present at birth. It is well known that the presence of large-sized congenital nevus in early life could predict a major risk of developing melanoma. OBJECTIVE: To investigate the clinical and dermoscopic features of the CMN, to search for and highlight any differences between small-sized, medium-sized, large-sized CMN. METHODS: A nonrandomized observational study was performed. A total of 108 melanocytic nevi were analysed by clinical and dermoscopic examination...
February 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28218741/identification-of-micrornas-associated-with-invasive-and-aggressive-phenotype-in-cutaneous-melanoma-by-next-generation-sequencing
#15
Sankhiros Babapoor, Rong Wu, James Kozubek, Donna Auidi, Jane M Grant-Kels, Soheil S Dadras
A comprehensive repertoire of human microRNAs (miRNAs) that could be involved in early melanoma invasion into the dermis remains unknown. To this end, we sequenced small RNAs (18-30 nucleotides) isolated from an annotated series of invasive melanomas (average invasive depth, 2.0 mm), common melanocytic nevi, and matched normal skin (n=28). Our previously established bioinformatics pipeline identified 765 distinct mature known miRNAs and defined a set of top 40 list that clearly segregated melanomas into thin (0...
June 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28191661/combined-in-vivo-reflectance-confocal-microscopy-and-digital-dermoscopy-for-follow-up-of-patients-at-high-risk-of-malignant-melanoma-a-prospective-case-series-study
#16
Uxúa Floristán Muruzábal, Reyes Gamo Villegas, Ana Pampín Franco, Fernando Pinedo Moraleda, Elia Pérez Fernández, José Luis López-Estebaranz
Digital dermoscopy (DD) follow up is a useful strategy for monitoring patients at high risk of melanoma. Reflectance confocal microscopy (RCM) is a valuable second-level examination after dermoscopy for the evaluation of difficult to diagnose lesions. The aim of this study was to assess the value of RCM in routine DD monitoring of patients at high risk of melanoma. In this prospective study, performed over 22 months, changing melanocytic lesions were detected by DD and excised. RCM imaging was performed before surgical excision of all the lesions, and histopathology used as the gold standard diagnostic test...
February 13, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28166613/melanocytic-nevus-count-and-dermoscopic-features-do-not-differ-in-psoriatic-patients-undergoing-biological-agent-versus-conventional-drug-therapy
#17
COMPARATIVE STUDY
Serpil Pirmit, Nahide Onsun, Ozlem Su, Dilek B Ozkaya
BACKGROUND: Psoriasis is a chronic immune-mediated disease and treatment of psoriasis includes conventional immunosuppressive agents and biological agents. There are a few data on the relationship between psoriasis and melanocytic lesions. Either benign or malignant proliferations may be seen with immunosuppressive treatment. Eruptive nevi and malignant melanoma (MM) have been reported also associated with biological agents There is raising link biological treatment and malignancies. The objective of this paper is to examine the effects of biological agents versus conventional drugs on melanocytic nevi count and dermoscopical features...
April 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28079340/serum-tryptase-levels-in-melanoma-patients-case-control-study-and-review-of-the-literature
#18
Giovanni Paolino, Elisa Moliterni, Dario Didona, Michele Cardone, Teresa Lopez, Valentina Garelli, Antonio G Richetta, Ugo Bottoni, Carmen Cantisani, Alfredo Rossi, Stefano Calvieri
BACKGROUND: Serum tryptase results from the constant release of the enzyme from mast cells and serum tryptase levels are commonly considered to be related to the total number of mast cells. They are increased in several malignancies, as pancreatic carcinoma, angiosarcoma, hepatic carcinoma and proliferative and/or non- proliferative hematological disorders. Contrariwise, it has been reported that the number of tryptase+ and chymase+ mast cells was lower in deeply invasive melanoma compared to in-situ melanoma and dysplastic nevi...
January 12, 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28065683/cutaneous-features-of-myotonic-dystrophy-types-1-and-2-implication-of-premature-aging-and-vitamin-d-homeostasis
#19
Elena Campione, Annalisa Botta, Monia Di Prete, Emanuele Rastelli, Manuela Gibellini, Antonio Petrucci, Sergio Bernardini, Giuseppe Novelli, Luca Bianchi, Augusto Orlandi, Roberto Massa, Chiara Terracciano
Skin changes have been described in myotonic dystrophy type 1 (DM1). However, whether and in which way skin is a target of specific disease alterations in DM1 and DM2 has not been yet clarified. This study aims to explore cutaneous features of DM1 and DM2 patients. Skin examination was performed in 60 DM1, 15 DM2, and 103 control, unselected patients by means of dermoscopy. It revealed quantitative and qualitative abnormalities of nevi and typical signs of premature aging in both DM1 and DM2 patients, with a significantly higher frequency of dysplastic nevi, alopecia, xerosis and seborrheic dermatitis...
February 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28060055/genetic-counselling-and-high-penetrance-susceptibility-gene-analysis-reveal-the-novel-cdkn2a-p-d84v-c-251a-t-mutation-in-melanoma-prone-families-from-italy
#20
Riccardo G Borroni, Ausilia M Manganoni, Sara Grassi, Maurizia Grasso, Marta Diegoli, Carmela Giorgianni, Valentina Favalli, Laura Pavoni, Maddalena Cespa, Eloisa Arbustini
Genetic susceptibility to primary cutaneous melanoma (PCM) may account for up to 12% of PCMs, presenting as the familial atypical mole/multiple melanoma syndrome (FAMMM), an autosomal dominant condition with incomplete penetrance and variable expressivity, characterized by PCM in at least two relatives and/or more than one PCMs in the same patient. To identify individuals at high genetic risk of PCM, from 1 January 2012 to 31 December 2015, we offered genetic counselling and molecular analysis of the two high-penetrance FAMMM susceptibility genes, cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), to 92 consecutive, unrelated patients with FAMMM...
January 4, 2017: Melanoma Research
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