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Molecular diagnostic melanoma

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https://www.readbyqxmd.com/read/29776637/an-update-regarding-the-molecular-genetics-of-melanocytic-neoplasms-and-the-current-applications-of-molecular-genetic-technologies-in-their-diagnosis-and-treatment
#1
REVIEW
Katrin Kiavash, Martin H Bluth, Andrew David Thompson
Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29742191/gene-expression-analysis-differentiates-melanomas-from-spitz-nevi
#2
Burkhard Jansen, Doyle Hansen, Ronald Moy, Maesa Hanhan, Zuxu Yao
INTRODUCTION: Pediatric Spitz nevi can pose significant diagnostic challenges to both clinicians and dermatopathologists when the current image-recognition based gold standard is employed. PRAME (preferentially expressed antigen in melanoma) and/or LINC (long intergeneic non-coding RNA 518) gene expression in adult patients in samples obtained non-invasively via adhesive patches differentiates primary melanomas from atypical nevi and other pigmented lesions with a NPV of over 99%, a sensitivity of 91%, and a specificity of 69%, to help clinicians rule out melanoma and the need for surgical biopsies of atypial pigmented lesions with suspicion for melanoma...
May 1, 2018: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29731876/mir-146a-promotes-cell-migration-and-invasion-in-melanoma-by-directly-targeting-smad4
#3
Wei Pu, Yongming Shang, Qiang Shao, Xinpeng Yuan
Previous studies have explored the functions of microRNA (miR)-146a in different types of cancer through mediating different targets. However, the roles of miR-146a in malignant melanoma (MM) cell migration and invasion remain largely elusive. In the present study, the potential molecular function of miR-146a in MM was investigated. Reverse transcription-quantitative polymerase chain reaction was utilized to detect miR-146a expression in MM tissues and cell lines. A Transwell assay was performed to confirm the ability of migration and invasion...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29665123/pilot-study-on-the-correlation-between-dermoscopic-patterns-and-fluorescence-in-situ-hybridization-findings-using-whole-slide-digital-imaging-for-acral-volar-melanocytic-lesions
#4
Dai Ogata, Eiichi Arai, Yoshiya Goto, Tetsuya Tsuchida
Dermoscopic evaluation of acral volar skin is helpful in differentiating malignant melanomas (MM) from benign melanocytic nevi. However, histological diagnosis remains difficult because sufficient evidence of histopathological changes to establish a diagnosis of MM are not easily obtained. The aim of the present study was to evaluate the effective use of fluorescence in situ hybridization (FISH) in the diagnosis of acral volar melanocytic lesions, and to determine whether acral volar melanocytic lesions show characteristic molecular biological features of malignant melanoma via FISH...
April 17, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29663897/computational-study-of-imidazolylporphyrin-derivatives-as-a-radiopharmaceutical-ligand-kit-for-melanoma
#5
Fransiska Kurniawan, Rahmana E Kartasasmita, Naoki Yoshioka, Abdul Mutalib, Daryono H Tjahjono
Melanoma is the most aggressive type of skin cancer. Metastatic melanoma is extremely difficult to treat with current therapy methods such as surgery. On the other hand, it is a good opportunity to develop a radiopharmaceutical using a radionuclide such as technetium (Tc) for diagnostic and rhenium (Re) for therapeutic purposes. T3,4BCPP has been be used as a radioimaging agent for melanoma cancers experimentally. The aim of the present research was to design new imidazolylporphyrin derivatives with better selectivity and higher affinity than those of T3,4BCPP by molecular modeling...
April 16, 2018: Current Computer-aided Drug Design
https://www.readbyqxmd.com/read/29623743/immunoexpression-of-bap1-ros1-and-alk-in-spitzoid-melanocytic-tumors
#6
Leonardo Cardili, Cristiano Ribeiro Viana, Andressa Germano, Mariana Fernandes, Denise Barcellos, Gilles Landman
BACKGROUND: Spitzoid tumors are a heterogeneous group of melanocytic neoplasms that frequently imposes diagnostic difficulties. Lately, several advances in molecular biology afforded significant discoveries on the pathogenesis of these tumors. BAP1 (BRCA-1 associated protein-1) inactivation and anomalous expression of kinase translocation-related proteins are among the main criteria launched by new classification proposals. Our aim was to systematically assess the immunoexpression of BAP1, ROS1 (receptor tyrosine kinase c-Ros oncogene 1), and ALK (anaplastic lymphoma receptor tyrosine kinase) proteins in an unpublished series of spitzoid tumors...
April 1, 2018: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29596374/dissecting-the-mutational-landscape-of-cutaneous-melanoma-an-omic-analysis-based-on-patients-from-greece
#7
Georgia Kontogianni, Georgia Piroti, Ilias Maglogiannis, Aristotelis Chatziioannou, Olga Papadodima
Melanoma is a lethal type of skin cancer, unless it is diagnosed early. Formalin-fixed, paraffin-embedded (FFPE) tissue is a valuable source for molecular assays after diagnostic examination, but isolated nucleic acids often suffer from degradation. Here, for the first time, we examine primary melanomas from Greek patients, using whole exome sequencing, so as to derive their mutational profile. Application of a bioinformatic framework revealed a total of 10,030 somatic mutations. Regarding the genes containing putative protein-altering mutations, 73 were common in at least three patients...
March 29, 2018: Cancers
https://www.readbyqxmd.com/read/29510820/the-interdisciplinary-diagnosis-and-treatment-of-intraocular-tumors
#8
Norbert Bornfeld, Eva Biewald, Sebastian Bauer, Petra Temming, Dietmar Lohmann, Michael Zeschnigk
BACKGROUND: Recent years have seen major changes in the diagnosis and treatment of solid intraocular tumors, mainly owing to an improved molecular biological understanding of their pathogenesis, new therapeutic approaches for the local treatment of tumors in children, and long-term follow-up observations in clinical trials. METHODS: This review is based on pertinent publications retrieved by a selective search in PubMed. RESULTS: Retinoblastoma is the most common type of primary intraocular tumor, with approximately 8000 new cases per year around the world, while malignant melanoma of the uvea is the most common primary intraocular tumor in adults, with approximately 7000 new cases per year around the world...
February 16, 2018: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/29492677/contemporary-treatment-approaches-to-sinonasal-mucosal-melanoma
#9
REVIEW
Moran Amit, Shorook Na'ara, Ehab Y Hanna
Sinonasal mucosal melanoma (SNMM) is a rare oncological entity that comprises most head and neck mucosal melanomas. SNMM has distinctive genetic background, different from cutaneous melanoma. Survival outcomes among SNMM patients are poor; while there is no clear consensus on the optimal management of SNMM, the primary treatment modality is generally considered to be wide surgical excision, and radiation therapy (RT) is often used in the postoperative adjuvant setting to improve locoregional control. Systemic therapies have demonstrated little or no survival benefit, and most SNMM patients die of distant metastatic disease...
February 28, 2018: Current Oncology Reports
https://www.readbyqxmd.com/read/29417221/reevaluation-of-established-and-new-criteria-in-differential-diagnosis-of-spitz-nevus-and-melanoma
#10
A Ritter, M Tronnier, B Vaske, C Mitteldorf
The histopathologic differentiation between Spitz nevus and melanoma is of particular interest in routine diagnostic procedures of melanocytic tumors. Atypical Spitz nevi are sometimes difficult to distinguish from melanoma. There is still no single criterion that ensures a distinction of melanoma and atypical Spitz nevus. The aim of this study was to reevaluate established and new criteria to differentiate Spitz nevus from melanoma more reliably. We analyzed 25 melanomas with a Breslow index ≥ 1 mm and 18 classical compound Spitz nevi concerning their histopathologic, immunohistochemical and molecular genetic characteristics...
May 2018: Archives of Dermatological Research
https://www.readbyqxmd.com/read/29389234/duration-of-anti-programmed-death-1-therapy-in-advanced-melanoma-how-much-of-a-good-thing-is-enough
#11
Nikhil I Khushalani
The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors' suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology, to patients seen in their own clinical practice...
February 1, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29377892/network-based-co-expression-analysis-for-exploring-the-potential-diagnostic-biomarkers-of-metastatic-melanoma
#12
Li-Xin Wang, Yang Li, Guan-Zhi Chen
Metastatic melanoma is an aggressive skin cancer and is one of the global malignancies with high mortality and morbidity. It is essential to identify and verify diagnostic biomarkers of early metastatic melanoma. Previous studies have systematically assessed protein biomarkers and mRNA-based expression characteristics. However, molecular markers for the early diagnosis of metastatic melanoma have not been identified. To explore potential regulatory targets, we have analyzed the gene microarray expression profiles of malignant melanoma samples by co-expression analysis based on the network approach...
2018: PloS One
https://www.readbyqxmd.com/read/29373944/using-gold-nanoparticles-in-diagnosis-and-treatment-of-melanoma-cancer
#13
Salman Bagheri, Maryam Yasemi, Elmira Safaie-Qamsari, Jamal Rashidiani, Morteza Abkar, Mahmoud Hassani, Seyed Ali Mirhosseini, Hamid Kooshki
Several studies have been devoted to clear functionalization of gold nanoparticles (AuNPs) in different fields such as cellular and molecular biology, microbiology, immunology and physiology. In line with the high diagnostic value of AuNPs, its therapeutic application has been intensively developed in tumour therapy, in recent years. One of the best clinical applications of AuNPs is its use in targeted delivery of anti-cancer drugs. Recent studies have focused on the application of AuNPs to treat melanoma - a malignant neoplasm sourced from melanocytes skin cells - with poor prognosis in advanced stages...
January 26, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29360813/development-and-validation-of-a-plasma-based-melanoma-biomarker-suitable-for-clinical-use
#14
Ryan Van Laar, Mitchel Lincoln, Barton Van Laar
This corrects the article DOI: 10.1038/bjc.2017.85.
March 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29341162/impact-of-genomics-on-the-surgical-management-of-melanoma
#15
REVIEW
P M Ferguson, G V Long, R A Scolyer, J F Thompson
BACKGROUND: Although surgery for early-stage melanoma offers the best chance of cure, recent advances in molecular medicine have revolutionized the management of late-stage melanoma, leading to significant improvements in clinical outcomes. Research into the genomic drivers of disease and cancer immunology has not only ushered in a new era of targeted and immune-based therapies for patients with metastatic melanoma, but has also provided new tools for monitoring disease recurrence and selecting therapeutic strategies...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29304903/locked-nucleic-acid-technology-for-highly-sensitive-detection-of-somatic-mutations-in-cancer
#16
Takayuki Ishige, Sakae Itoga, Kazuyuki Matsushita
The molecular diagnosis of the cancer mutational status is essential for modern clinical laboratory medicine. Mutations in EGFR, KRAS, BRAF, and PIK3CA genes are widely analyzed in solid tumors such as lung cancer, colorectal cancer, breast cancer, and melanoma. The allele-specific polymerase chain reaction, high-resolution melting, and Sanger sequencing are used for detecting and identifying gene mutations in many clinical laboratories. The locked nucleic acid (LNA) is a class of nucleic acid analogs that contain a methylene bridge connecting the 2' oxygen and 4' carbon in the ribose moiety...
2018: Advances in Clinical Chemistry
https://www.readbyqxmd.com/read/29288729/extracellular-vesicles-or-free-circulating-dna-where-to-search-for-braf-and-ckit-mutations
#17
Jennifer Klump, Ulrike Phillipp, Marie Follo, Anna Eremin, Hannes Lehmann, Sigrun Nestel, Nikolas von Bubnoff, Irina Nazarenko
Clinical evidence in oncology argues for the advantages of performing molecular analysis of blood biomarkers to provide information about systemic changes and tumor heterogeneity. Whereas the diagnostic value of cell-free circulating DNA (fcDNA) has successfully been demonstrated in several studies, DNA enclosed in extracellular vesicles (EV) has only recently been described, and its potential diagnostic value is unclear. We established a protocol for separation of EV and fc fractions and tested for presence of mutant BRAFV600E mediating resistance to Vemurafenib and cKITD816V mediating resistance to Imatinib in blood of patients with melanoma and mastocytosis...
December 27, 2017: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/29226953/micrornas-in-cutaneous-melanoma-role-as-diagnostic-and-prognostic-biomarkers
#18
REVIEW
Casey L Ross, Shivani Kaushik, Rodrigo Valdes-Rodriguez, Rina Anvekar
Melanoma is the leading cause of skin cancer deaths in the United States, and its incidence has been rising steadily for the past 30 years (Aftab, Dinger, & Perera, 2014). A more complete understanding of the molecular mechanisms that drive melanomagenesis is crucial to improve diagnosis, prognostication, and treatment of this disease. Given that melanoma survival rates are better when the disease is detected early, precise diagnostic tests for early melanoma detection would be extremely useful. In addition, as survival rates decrease drastically when the disease becomes metastatic, improved tools to more precisely identify high-risk patients as well as to predict treatment response are necessary...
December 11, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29156734/pax3d-mrna-over-2-76-copies-%C3%A2%C2%B5l-in-the-bloodstream-predicts-cutaneous-malignant-melanoma-relapse
#19
Chiara Autilio, Carmela Paolillo, Maria Michela Lavieri, Krizia Pocino, Elisa De Paolis, Enrico Di Stasio, Paolo Marchetti, Cappellini Antonini Gian Carlo, Ettore Capoluongo
Objective: The aim of this study was to evaluate if our molecular algorithm, based on tumor circulating transcripts, may predict relapse risk in cutaneous malignant melanoma (CMM). Results: The multi-marker panel was able to differentiate patients with CMM from HC with high diagnostic sensitivity and specificity, especially for MITF-m and TGFB2 (91-100%) whose levels decreased during follow-up of recurrence-free patients, and remained stable in the case of relapse...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29148538/molecular-testing-for-braf-mutations-to-inform-melanoma-treatment-decisions-a-move-toward-precision-medicine
#20
REVIEW
Liang Cheng, Antonio Lopez-Beltran, Francesco Massari, Gregory T MacLennan, Rodolfo Montironi
Approximately one-half of advanced (unresectable or metastatic) melanomas harbor a mutation in the BRAF gene, with V600E being the most common mutation. Targeted therapy with BRAF and MEK inhibitors is associated with significant long-term treatment benefit in patients with BRAF V600-mutated melanoma. Therefore, molecular testing for BRAF mutations is a priority in determining the course of therapy. A literature search was performed using MEDLINE/PubMed and scientific congress databases using the terms 'BRAF,' 'mutation,' and 'cancer/tumor...
January 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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