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Melanoma genetics

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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/29774064/tumour-homing-chimeric-polypeptide-conjugated-polypyrrole-nanoparticles-for-imaging-guided-synergistic-photothermal-and-chemical-therapy-of-cancer
#2
Mengmeng Sun, Jianwen Guo, Hanjun Hao, Tong Tong, Kun Wang, Weiping Gao
Near-infrared (NIR)-absorbing conjugated polymer nanoparticles are interesting for imaging-guided combination therapy, especially for synergistic photothermal therapy and chemotherapy; however, most of them target tumours passively through the enhanced permeability and retention (EPR) effect, leading to low utilization efficiency. To address this problem, we report an active tumour-targeting strategy of tumour-homing chimeric polypeptide-conjugated NIR-absorbing conjugated-polymer nanoparticles as a new class of drug nanocarriers for imaging-guided combination therapy of cancer...
2018: Theranostics
https://www.readbyqxmd.com/read/29771690/heavily-pigmented-epithelioid-melanoma-with-loss-of-protein-kinase-a-regulatory-subunit-%C3%AE-expression
#3
Jarish N Cohen, Jessica A Spies, Fawn Ross, Angela Bohlke, Timothy H McCalmont
Heavily pigmented melanocytic neoplasms are genotypically and phenotypically diverse. Recently, a subset of this histopathologic spectrum was shown to harbor recurrent genetic alterations in the gene-encoding protein kinase A regulatory subunit-α (PRKAR1A). To date, no histopathologic descriptions of melanomas arising from this pathway have been described. We present a case of a darkly pigmented papule arising on the posterior neck of a 28-year-old man. Microscopically, the heavily pigmented compound melanocytic proliferation was centered in the dermis with permeation into the superficial subcutis...
May 16, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29769598/germline-mutation-in-the-tp53-gene-in-uveal-melanoma
#4
Nikola Hajkova, Jan Hojny, Kristyna Nemejcova, Pavel Dundr, Jan Ulrych, Katerina Jirsova, Johana Glezgova, Ivana Ticha
We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes. A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue. In three cases, pathogenic BAP1 mutation was detected together with germline missense variants of uncertain significance in ATM. All cases carried recurrent activating GNAQ or GNA11 mutation. Moreover, we analyzed samples from another 16 patients with primary UM by direct Sanger sequencing focusing only on TP53 coding region...
May 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29762513/spatiotemporal-labeling-of-melanocytes-in-mice
#5
REVIEW
Sarah Preston, Shweta Aras, M Raza Zaidi
Melanocytes are pigment producing cells in the skin that give rise to cutaneous malignant melanoma, which is a highly aggressive and the deadliest form of skin cancer. Studying melanocytes in vivo is often difficult due to their small proportion in the skin and the lack of specific cell surface markers. Several genetically-engineered mouse models (GEMMs) have been created to specifically label the melanocyte compartment. These models give both spatial and temporal control over the expression of a cellular 'beacon' that has an added benefit of inducible expression that can be activated on demand...
May 15, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29760085/mda-9-syntenin-regulates-protective-autophagy-in-anoikis-resistant-glioma-stem-cells
#6
Sarmistha Talukdar, Anjan K Pradhan, Praveen Bhoopathi, Xue-Ning Shen, Laura A August, Jolene J Windle, Devanand Sarkar, Frank B Furnari, Webster K Cavenee, Swadesh K Das, Luni Emdad, Paul B Fisher
Glioma stem cells (GSCs) comprise a small subpopulation of glioblastoma multiforme cells that contribute to therapy resistance, poor prognosis, and tumor recurrence. Protective autophagy promotes resistance of GSCs to anoikis, a form of programmed cell death occurring when anchorage-dependent cells detach from the extracellular matrix. In nonadherent conditions, GSCs display protective autophagy and anoikis-resistance, which correlates with expression of melanoma differentiation associated gene-9/Syntenin (MDA-9) (syndecan binding protein; SDCBP)...
May 14, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29755733/recent-advancements-in-the-management-of-retinoblastoma-and-uveal-melanoma
#7
REVIEW
Amy C Schefler, Ryan S Kim
Retinoblastoma and uveal melanoma are the most common intraocular malignancies observed in pediatric and adult populations, respectively. For retinoblastoma, intra-arterial chemotherapy has dramatically improved treatment outcomes and eye salvage rates compared with traditional salvage rates of systemic chemotherapy and external beam radiation therapy. Intravitreal injections of chemotherapy have also demonstrated excellent efficacy for vitreous seeds. Uveal melanoma, on the other hand, is treated predominantly with iodine-125 plaque brachytherapy or with proton beam therapy...
2018: F1000Research
https://www.readbyqxmd.com/read/29755525/quality-of-life-depression-and-anxiety-in-patients-with-uveal-melanoma-a-review
#8
REVIEW
Mario Miniati, Maria Grazia Fabrini, Federica Genovesi Ebert, Maricia Mancino, Alessandra Maglio, Gabriele Massimetti, Enrico Massimetti, Donatella Marazziti
The aim is to summarize current knowledge on both QoL and depressive/anxious symptoms in patients with UM, including studies on the effect on QoL and psychological status of genetic testing related to the risk of metastatic disease. A review from the last 25 years by using the databases "PsycInfo," "Medline," and "Science Direct" was performed. As a total result, eighteen papers were retrieved. Eight studies (44.4%) used a prospective design methodology: two were retrospective observations (11...
2018: Journal of Oncology
https://www.readbyqxmd.com/read/29753029/inherited-genetic-variants-associated-with-melanoma-braf-nras-subtypes
#9
Nancy E Thomas, Sharon N Edmiston, Irene Orlow, Peter A Kanetsky, Li Luo, David C Gibbs, Eloise A Parrish, Honglin Hao, Klaus J Busam, Bruce K Armstrong, Anne Kricker, Anne E Cust, Hoda Anton-Culver, Stephen B Gruber, Richard P Gallagher, Roberto Zanetti, Stefano Rosso, Lidia Sacchetto, Terence Dwyer, David W Ollila, Colin B Begg, Marianne Berwick, Kathleen Conway
BRAF and NRAS mutations arise early in melanoma development but their associations with low-penetrance melanoma susceptibility loci remain unknown. In the Genes, Environment and Melanoma (GEM) Study, 1223 European-origin participants had their incident invasive primary melanomas screened for BRAF/NRAS mutations and germline DNA genotyped for 47 single-nucleotide polymorphisms (SNPs) identified as low-penetrant melanoma risk variants. We used multinomial logistic regression to simultaneously examine each SNP's relationship to BRAF V600E, BRAF V600K, BRAF other, and NRAS+ relative to BRAF-/NRAS- melanoma adjusted for study features...
May 9, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29752733/the-difficulty-in-interpreting-gene-expression-profiling-in-bap1-negative-melanocytic-tumors
#10
Andrew S Fischer, Whitney A High
BACKGROUND: BAP1 negative melanocytic tumors were unrecognized in the medical literature until 2011. While the clinical significance of these tumors is poorly understood, there is concern such lesions represent processes in transition, and malignant degeneration is a concern. We investigated use of a 23-gene expression profiling (23-GEP) test for distinction from melanoma with the aim of better characterizing the biologic potential of such tumors. METHODS: Twenty BAP1 negative melanocytic tumors, subjected to 23-GEP (Myriad Genetic Laboratories, Inc...
May 12, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29752262/cd4-t-cell-mediated-rejection-of-mhc-class-ii-positive-tumor-cells-is-dependent-on-antigen-secretion-and-indirect-presentation-on-host-apcs
#11
Ole Audun Werner Haabeth, Marte Fauskanger, Melanie Manzke, Katrin U Lundin, Alexandre Corthay, Bjarne Bogen, Anders Aune Tveita
Tumor-specific CD4+ T cells have been shown to mediate efficient anti-tumor immune responses against cancer. Such responses can occur through direct binding to MHC class II (MHC II)-expressing tumor cells or indirectly via activation of professional antigen-presenting cells (APC) that take up and present the tumor antigen. We have previously shown that CD4+ T cells reactive against an epitope within the Ig light chain variable region of a murine B cell lymphoma can reject established tumors. Given the presence of MHC II molecules at the surface of lymphoma cells, we investigated whether MHC II-restricted antigen presentation on tumor cells alone was required for rejection...
May 11, 2018: Cancer Research
https://www.readbyqxmd.com/read/29752127/implementation-of-next-generation-sequencing-technology-for-somatic-mutation-detection-in-routine-laboratory-practice
#12
Tindaro Giardina, Cleo Robinson, Fabienne Grieu-Iacopetta, Michael Millward, Barry Iacopetta, Dominic Spagnolo, Benhur Amanuel
The introduction of next generation sequencing (NGS) in the routine diagnostic setting is still in the development phase and has been limited by its complexity. Targeted NGS offers an attractive alternative to performing multiple single target assays and is very useful in meeting the increasing clinical demand for testing of multiple genetic aberrations in cancer specimens. To this end, we carried out a blinded validation study on 113 tumours in a diagnostic laboratory and compared mutation results from targeted NGS with those from Sanger sequencing, pyrosequencing, competitive allele specific TaqMan polymerase chain reaction (CAST PCR) and Cobas assays...
May 8, 2018: Pathology
https://www.readbyqxmd.com/read/29746652/malignant-melanoma-metastatic-to-oligodendroglioma-case-report-and-literature-review-of-tumor-to-tumor-metastasis-to-gliomas
#13
Alexandra Giantini Larsen, Benjamin L Grannan, Christine K Lee, Matthew J Koch, Erik A Williams, Matthew P Frosch, Daniel P Cahill
Tumor-to-tumor metastasis is an uncommon phenomenon, and a metastasis from an extracranial donor tumor to an intracranial recipient tumor is extremely rare. In particular, there are only 14 cases reported in the literature that describe a tumor-to-tumor metastasis involving a glioma. We present a rare case of an 83-year-old man with an 11-year history of lentigo maligna melanoma who presented with impaired balance and cognitive slowing and was found to have rapid progression of a previously known indolent right frontal brain mass...
May 8, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29746316/the-clinical-significance-of-kit-mutations-in-melanoma-a-meta-analysis
#14
Hui Z Gong, He Y Zheng, Jun Li
This study aimed to evaluate the association of KIT mutations with clinicopathologic features of melanomas using a meta-analysis and to identify differences between Asian and White populations using subgroup analyses. We selected 32 studies from the literature including 5224 patients. The pooled data were combined, and odds ratios (ORs) and 95% confidence intervals (CIs) were calculated. Heterogeneity and publication bias were also determined. KIT mutations were reported in 497 (9.5%) of 5224 patients with melanomas, and were associated significantly with age, clinical melanoma subtype, anatomic location, and chronic sun-damage (CSD), but not with sex, histological type, Breslow thickness, ulceration, mitotic rate, or tumor stage...
May 9, 2018: Melanoma Research
https://www.readbyqxmd.com/read/29739929/genome-wide-association-study-in-176-678-europeans-reveals-genetic-loci-for-tanning-response-to-sun-exposure
#15
Alessia Visconti, David L Duffy, Fan Liu, Gu Zhu, Wenting Wu, Yan Chen, Pirro G Hysi, Changqing Zeng, Marianna Sanna, Mark M Iles, Peter A Kanetsky, Florence Demenais, Merel A Hamer, Andre G Uitterlinden, M Arfan Ikram, Tamar Nijsten, Nicholas G Martin, Manfred Kayser, Tim D Spector, Jiali Han, Veronique Bataille, Mario Falchi
The skin's tendency to sunburn rather than tan is a major risk factor for skin cancer. Here we report a large genome-wide association study of ease of skin tanning in 176,678 subjects of European ancestry. We identify significant association with tanning ability at 20 loci. We confirm previously identified associations at six of these loci, and report 14 novel loci, of which ten have never been associated with pigmentation-related phenotypes. Our results also suggest that variants at the AHR/AGR3 locus, previously associated with cutaneous malignant melanoma the underlying mechanism of which is poorly understood, might act on disease risk through modulation of tanning ability...
May 8, 2018: Nature Communications
https://www.readbyqxmd.com/read/29738114/oncogenic-signaling-in-uveal-melanoma
#16
REVIEW
John J Park, Russell J Diefenbach, Anthony M Joshua, Richard F Kefford, Matteo S Carlino, Helen Rizos
Uveal melanoma is the most common primary cancer of the eye, and despite rapidly emerging insights into the molecular profile of this disease, prognosis of patients with metastatic uveal melanoma remains poor with mortality rates unchanged in over 35 years. Early genetic events activate G-protein coupled receptor signaling in nearly all uveal tumors via mutually exclusive mutations in the GNAQ, GNA11, CYSLTR2 or PLCB4 genes. A multitude of signaling cascades downstream of G-protein activation, including protein kinase C and mitogen activated protein kinase activity are actionable and many ongoing clinical trials are targeting these pathways...
May 8, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29732557/overexpression-of-ezh2-in-conjunctival-melanoma-offers-a-new-therapeutic-target
#17
Jinfeng Cao, Kelly C S Pontes, Renier C Heijkants, Niels J Brouwer, Arwin Groenewoud, Ekaterina S Jordanova, Marina Marinkovic, Sjoerd van Duinen, Amina F A S Teunisse, Robert M Verdijk, Ewa Snaar-Jagalska, Aart G Jochemsen, Martine J Jager
Malignant melanoma of the conjunctiva (CM) is an uncommon but potentially deadly disorder. Many malignancies show an increased activity of the epigenetic modifier Enhancer of zeste homolog 2 (EZH2). We studied whether EZH2 is expressed in CM, and whether it may be a target for therapy in this malignancy. Immunohistochemical analysis showed that EZH2 protein expression was absent in normal conjunctival melanocytes and primary acquired melanosis, while EZH2 was highly expressed in 13 (50%) of 26 primary CM and seven (88%) of eight lymph node metastases...
May 7, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29726589/chromosomal-rearrangements-in-uveal-melanoma-chromothripsis
#18
Natasha M van Poppelen, Serdar Yavuzyigitoglu, Kyra N Smit, Jolanda Vaarwater, Bert Eussen, Tom Brands, Dion Paridaens, Emine Kiliç, Annelies de Klein
Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX and SF3B1 are described as well as non-random chromosomal aberrations. Chromothripsis is a rare event in which chromosomes are shattered and rearranged and has been reported in a variety of cancers including UM. SNP arrays of 249 UM from patients who underwent enucleation, biopsy or endoresection were reviewed for the presence of chromothripsis. Chromothripsis was defined as ten or more breakpoints per chromosome involved...
May 4, 2018: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/29722002/genetics-of-metastasis-melanoma-and-other-cancers
#19
Noel Turner, Olivia Ware, Marcus Bosenberg
Melanoma is a malignant neoplasm of melanocytes that accounts for the majority of skin cancer deaths despite comprising less than 5% of all cutaneous malignancies. Its incidence has increased faster than that of any other cancer over the past half-century and the annual costs of treatment in the United States alone have risen rapidly. Although the majority of primary melanomas are cured with local excision, metastatic melanoma historically carries a grim prognosis, with a median survival of 9 months and a long-term survival rate of 10%...
May 2, 2018: Clinical & Experimental Metastasis
https://www.readbyqxmd.com/read/29714599/unresectable-and-metastatic-melanoma-of-the-skin-literature-review-of-clinical-trials-and-efficacy-endpoints-since-2000
#20
Susan Jin, Pallavi S Mishra-Kalyani, Rajeshwari Sridhara
Advanced and metastatic melanoma has historically been one of the most difficult cancers to treat, with few treatment options. For over 20 years, dacarbazine chemotherapy was the only treatment approved by the US Food and Drug Administration for melanoma. In recent years, breakthroughs have been made in the areas of monoclonal antibody immunotherapies and genetically targeted therapies, leading to FDA approval of several new drugs for metastatic melanoma that have demonstrated improved patient response and survival...
January 1, 2018: Therapeutic Innovation & Regulatory Science
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