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Melanoma genetics

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https://www.readbyqxmd.com/read/27914105/genetic-variants-in-the-integrin-signaling-pathway-genes-predict-cutaneous-melanoma-survival
#1
Hongyu Li, Yanru Wang, Hongliang Liu, Qiong Shi, Yinghui Xu, Wenting Wu, Dakai Zhu, Christopher I Amos, Shenying Fang, Jeffrey E Lee, Jiali Han, Qingyi Wei
To identify genetic variants involved in prognosis of cutaneous melanoma (CM), we investigated associations of single nucleotide polymorphisms (SNPs) of genes in the integrin signaling pathway with CM survival by re-analyzing a published genome-wide association study (GWAS) from The University of Texas M.D. Anderson Cancer Center (MDACC), and then validated significant SNPs in another GWAS from Harvard University. In the MDACC study, 1,148 SNPs were significantly associated with CM-specific survival (CMSS) (P ≤ 0...
December 3, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27903500/primary-resistance-to-pd-1-blockade-mediated-by-jak%C3%A2-mutations
#2
Daniel Sanghoon Shin, Jesse M Zaretsky, Helena Escuin-Ordinas, Angel Garcia-Diaz, Siwen Hu-Lieskovan, Anusha Kalbasi, Catherine S Grasso, Willy Hugo, Salemiz Sandoval, Davis Y Torrejon, Nicolaos Palaskas, Gabriel Abril Rodriguez, Giulia Parisi, Ariel Azhdam, Bartosz Chmielowski, Grace Cherry, Elizabeth Seja, Beata Berent-Maoz, I Peter Shintaku, Dung Thi Le, Drew M Pardoll, Luis A Diaz, Paul C Tumeh, Thomas G Graeber, Roger S Lo, Begoña Comin-Anduix, Antoni Ribas
Loss of function mutations in JAK½ can lead to acquired resistance to anti-programmed death protein 1 (PD-1) therapy. We reasoned they may also be involved in primary resistance to anti-PD-1 therapy. JAK½ inactivating mutations were noted in tumor biopsies of 1 of 23 patients with melanoma and in 1 of 16 patients with mismatch repair deficient colon cancer treated with PD-1 blockade. Both cases had a high mutational load but did not respond to anti-PD-1 therapy. Two out of 48 human melanoma cell lines had JAK½ mutations, which led to lack of PD-L1 expression upon interferon gamma exposure mediated by inability to signal through the interferon gamma receptor pathway...
November 30, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27899960/genetics-and-epigenetics-of-melanoma
#3
Xiao-Ying Zhang, Pei-Ying Zhang
Cancer affects multiple organs in the body Malignant melanoma involves the invasion of skin and occasionally mucosal membrane or eye choroidal tissues. The incidence of cutaneous malignant melanoma is on the increase worldwide and is a major concern in current research. The increase is associated with UV irradiation-induced genetic aberrations that stimulate skin melanocytes to develop unlimited growth. This eventually leads to cell immortality, which in turn causes metastases. The present review examines the genetics and epigenetics of this pathological state together with recent perspectives of the therapeutic management of disease...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27899693/performance-testing-of-rreb1-myb-and-ccnd1-fluorescence-in-situ-hybridization-in-spindle-cell-and-desmoplastic-melanoma-argues-for-a-two-step-test-algorithm
#4
Stephanie E Weissinger, Manfred Frick, Peter Möller, Basil A Horst, Jochen K Lennerz
Background Diagnostic confirmation of spindle-cell melanoma (SM) or desmoplastic melanoma (DM) as a melanoma can be challenging. In conventional melanoma (CM), a recently established fluorescence in situ hybridization (FISH) assay for RREB1, MYB, CCND1 can be helpful. Here, we determined the presence of RREB1, MYB, and CCND1 abnormalities in an SM/DM/mixed cohort. Methods We assembled 49 cases and performed 3 separate hybridizations for RREB1/MYB/CCND1 We assessed clinical utility in diagnostically challenging cases and performed a cost and turnaround time analysis...
November 29, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27899192/genetic-predisposition-to-melanoma
#5
REVIEW
Jason E Hawkes, Amanda Truong, Laurence J Meyer
Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient's overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5%-10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. Additionally, most familial melanomas lack germ-line mutations in genes that are commonly mutated in sporadic melanoma...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27892516/in-vivo-coherent-raman-imaging-of-the-melanomagenesis-associated-pigment-pheomelanin
#6
Hequn Wang, Sam Osseiran, Vivien Igras, Alexander J Nichols, Elisabeth M Roider, Joachim Pruessner, Hensin Tsao, David E Fisher, Conor L Evans
Melanoma is the most deadly form of skin cancer with a yearly global incidence over 232,000 patients. Individuals with fair skin and red hair exhibit the highest risk for developing melanoma, with evidence suggesting the red/blond pigment known as pheomelanin may elevate melanoma risk through both UV radiation-dependent and -independent mechanisms. Although the ability to identify, characterize, and monitor pheomelanin within skin is vital for improving our understanding of the underlying biology of these lesions, no tools exist for real-time, in vivo detection of the pigment...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27890240/melanocytic-nevi-and-the-genetic-and-epigenetic-control-of-oncogene-induced-senescence
#7
REVIEW
Jennifer M Huang, Ijeuru Chikeka, Thomas J Hornyak
Melanocytic nevi represent benign clonal proliferations of the melanocytes in the skin that usually remain stable in size and behavior or disappear during life. Infrequently, melanocytic nevi undergo malignant transformation to melanoma. Understanding molecular and cellular mechanisms underlying oncogene-induced senescence should help identify pathways underlying melanoma development, leading to the development of new strategies for melanoma prevention and early detection.
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27889875/development-of-an-educational-program-integrating-concepts-of-genetic-risk-and-preventive-strategies-for-children-with-a-family-history-of-melanoma
#8
Yelena P Wu, Lisa G Aspinwall, Elizabeth Nagelhout, Wendy Kohlmann, Kimberly A Kaphingst, Sheila Homburger, Ryan D Perkins, Douglas Grossman, Garrett Harding, Pamela Cassidy, Sancy A Leachman
Efforts to prevent melanoma, especially for those at elevated risk for the disease, should ideally begin during childhood. However, there are few preventive interventions targeting children who are at higher risk for melanoma due to a family history of the disease. Further, there are no educational interventions that aim to help these at-risk children understand their risk for melanoma and the ways in which preventive behaviors, such as sun protection, can mitigate their risk. The current paper describes a multidisciplinary team's process for creating a developmentally appropriate educational intervention about melanoma risk and prevention for children ages 8-17 years who have a family history of melanoma...
November 26, 2016: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/27889782/molecular-pathology-a-requirement-for-precision-medicine-in-cancer
#9
Manfred Dietel
The increasing importance of targeting drugs and check-point inhibitors in the treatment of several tumor entities (breast, colon, lung, malignant melanoma, lymphoma, etc.) and the necessity of a companion diagnostic (HER2, (pan)RAS, EGFR, ALK, BRAF, ROS1, MET, PD-L1, etc.) is leading to new challenges for surgical pathology. Since almost all the biomarkers to be specifically detected are tissue based, a precise and reliable diagnostic is absolutely crucial. To meet this challenge surgical pathology has adapted a number of molecular methods (semi-quantitative immunohistochemistry, fluorescence in situ hybridization, PCR and its multiple variants, (pyro/Sanger) sequencing, next generation sequencing (amplicon, whole exome, whole genome), DNA arrays, methylation analyses, etc...
2016: Oncology Research and Treatment
https://www.readbyqxmd.com/read/27883926/application-of-genetically-engineered-salmonella-typhimurium-for-interferon-gamma-induced-therapy-against-melanoma
#10
Wonsuck Yoon, Yoo Chang Park, Jinseok Kim, Yang Seok Chae, Jung Hye Byeon, Sang-Hyun Min, Sungha Park, Young Yoo, Yong Keun Park, Byeong Mo Kim
Salmonella have been experimentally used as anti-cancer agents, because they show selective growth in tumours. In this study, we genetically modified attenuated Salmonella typhimurium to express and secrete interferon-gamma (IFN-γ) as a tumouricidal agent to enhance the therapeutic efficacy of Salmonella. IFN-γ was fused to the N-terminal region (residues 1-160) of SipB (SipB160) for secretion from bacterial cells. Attenuated S. typhimurium expressing recombinant IFN-γ (S. typhimurium (IFN-γ)) invaded the melanoma cells and induced cytotoxicity...
November 21, 2016: European Journal of Cancer
https://www.readbyqxmd.com/read/27883322/molecular-biology-and-genetic-mechanisms-in-the-progression-of-the-malignant-skin-melanoma
#11
Sofija Pejkova, Gjorgje Dzokic, Smilja Tudzarova-Gjorgova, Sasho Panov
Malignant skin melanoma is a tumor deriving from transformed skin melanocytes as a result of complex interactions between genetic and environmental factors. This melanoma has a potential to metastasize early and very often it is resistant to the existing modalities of the systemic therapy. As in any other neoplasms, certain types of melanoma may skip certain stages of progression. The progression from one stage to another is accompanied by specific biological changes. Several key changes in the melanoma tumorogenesis influence the regulation of the cell proliferation and vitality, including the RAS-RAF-ERK, PI3K-AKT, and p16INK4/CDK4/RB pathways...
November 1, 2016: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/27875557/socioeconomic-status-and-poor-health-outcome-at-10-years-of-follow-up-in-the-multi-ethnic-study-of-atherosclerosis
#12
Steven Shea, Joao Lima, Ana Diez-Roux, Neal W Jorgensen, Robyn L McClelland
BACKGROUND/OBJECTIVES: Predictors of healthy aging have not been well-studied using longitudinal data with demographic, clinical, subclinical, and genetic information. The objective was to identify predictors of poor health outcome at 10 years of follow-up in the Multi-Ethnic Study of Atherosclerosis (MESA). DESIGN: Prospective cohort study. SETTING: Population-based sample from 6 U.S. communities. PARTICIPANTS: 4,355 participants In the MESA Study...
2016: PloS One
https://www.readbyqxmd.com/read/27875276/cancer-cells-become-less-deformable-and-more-invasive-with-activation-of-%C3%AE-adrenergic-signaling
#13
Tae-Hyung Kim, Navjot Kaur Gill, Kendra D Nyberg, Angelyn V Nguyen, Sophia V Hohlbauch, Nicholas A Geisse, Cameron J Nowell, Erica K Sloan, Amy C Rowat
Invasion by cancer cells is a critical step in metastasis. An oversimplified view in the literature is that cancer cells become more deformable as they become more invasive. β-adrenergic receptor (βAR) signaling drives invasion and metastasis, but the effects on cell deformability are not known. Here we show that activation of β-adrenergic signaling by βAR agonists reduces the deformability of highly metastatic human breast cancer cells, and that these stiffer cells are more invasive in vitro We find that βAR activation also reduces the deformability of ovarian, prostate, melanoma, and leukemia cells...
November 14, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27874206/spitz-nevi-and-other-spitzoid-neoplasms-in-children-overview-of-incidence-data-and-diagnostic-criteria
#14
REVIEW
Emi Dika, Giulia Maria Ravaioli, Pier Alessandro Fanti, Iria Neri, Annalisa Patrizi
Spitz nevi are benign melanocytic neoplasms characterized by epithelioid or spindle melanocytes or both. In some rare cases their presentation overlaps with the clinical and histopathologic features of malignant melanoma, so a differential diagnosis can be difficult to make. Intermediate forms between Spitz nevi and malignant melanoma, with unpredictable behavior, have been called atypical Spitz tumors. A literature search was performed to review the clinical, dermoscopic, genetic, and histopathologic aspects of spitzoid tumors...
November 22, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27869370/conjunctival-malignant-melanoma-in-denmark-epidemiology-treatment-and-prognosis-with-special-emphasis-on-tumorigenesis-and-genetic-profile
#15
Ann-Cathrine Larsen
No abstract text is available yet for this article.
December 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27868139/clinical-genetic-and-innate-immunity-characteristics-of-melanoma-in-organ-transplant-recipients
#16
Anabelle Brocard, Anne-Chantal Knol, Céline Bossard, Marc G Denis, Gaëlle Quéreux, Mélanie Saint-Jean, Lucie Peuvrel, Amir Khammari, Gilles Blancho, Jacques Dantal, Brigitte Dréno
The aims of this study were to determine the clinical and histological characteristics of melanoma in transplant recipients, the mutation profile (BRAF, NRAS and c-KIT genes), and the immune tolerance of the tumour microenvironment by immunohistochemical study of the expression of IDO, PD1, PD-L1, CD8 and FoxP3. The study population comprised patients who had undergone a renal transplant in Nantes University Hospital who developed post-transplantation melanoma. Twenty cases of melanoma out of 4,663 transplant recipients were studied...
November 10, 2016: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/27864417/tumor-thickness-and-mitotic-rate-robustly-predict-melanoma-specific-survival-in-patients-with-primary-vulvar-melanoma-a-retrospective-review-of-100-cases
#17
Priyadharsini Nagarajan, Jonathan L Curry, Jing Ning, Jin Piao, Carlos A Torres Cabala, Phyu P Aung, Doina Ivan, Merrick I Ross, Charles F Levenback, Michael Frumovitz, Jeffrey E Gershenwald, Michael A Davies, Anais Malpica, Victor Prieto, Michael T Tetzlaff
PURPOSE: Primary vulvar melanoma (PVM) is the second most common vulvar malignancy. Despite their distinct anatomic site and unique molecular-genetic alterations, PVMs are staged according to the American Joint Committee on Cancer (AJCC) guidelines for primary cutaneous melanomas (PCM). However, whether parameters derived for PCM also apply to PVM remains a critical yet largely unexplored clinical question. The objective of this study was to determine the parameters predictive of survival in PVM...
November 18, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27859308/resatorvid-based-pharmacological-antagonism-of-cutaneous-tlr4-blocks-uv-induced-nf-%C3%AE%C2%BAb-and-ap-1-signaling-in-keratinocytes-and-mouse-skin
#18
Jaroslav Janda, Nichole Burkett, Karen Blohm-Mangone, Vivian Huang, Clara Curiel-Lewandrowski, David S Alberts, Emanuel F Petricoin, Valerie S Calvert, Janine Einspahr, Zigang Dong, Ann M Bode, Georg T Wondrak, Sally E Dickinson
Cutaneous exposure to solar ultraviolet (UV) radiation is a major causative factor in skin carcinogenesis, and improved molecular strategies for efficacious chemoprevention of non-melanoma skin cancer (NMSC) are urgently needed. Toll-like receptor 4 (TLR4) signaling has been shown to drive skin inflammation, photoimmunosuppression and chemical carcinogenesis. Here we have examined the feasibility of genetic and pharmacological antagonism targeting cutaneous TLR4 for the suppression of UV-induced NF-κB and AP-1 signaling in keratinocytes and mouse skin...
November 10, 2016: Photochemistry and Photobiology
https://www.readbyqxmd.com/read/27856220/the-biology-of-beta-human-papillomaviruses
#19
REVIEW
Massimo Tommasino
The beta genus comprises more than 50 beta human papillomavirus (HPV) types that are suspected to be involved, together with ultraviolet (UV) irradiation, in the development of non-melanoma skin cancer (NMSC), the most common form of human cancer. Two members of the genus beta, HPV5 and HPV8, were first identified in patients with a genetic disorder, epidermodysplasia verruciformis (EV), that confers high susceptibility to beta HPV infection and NMSC development. The fact that organ transplant recipients (OTRs) with an impaired immune system have an elevated risk of NMSC raised the hypothesis that beta HPV types may also be involved in skin carcinogenesis in non-EV patients...
November 14, 2016: Virus Research
https://www.readbyqxmd.com/read/27847622/clinical-application-of-genetic-testing-for-posterior-uveal-melanoma
#20
REVIEW
Victoria J Schopper, Zelia M Correa
Uveal melanoma is the most common primary intraocular tumor in adults, and it has a strong potential to metastasize. Traditionally, clinicopathological features of these tumors were used to provide a limited prediction of the metastatic risk. However, early genetic studies using karyotype analysis, fluorescence in situ hybridization, and comparative genetic hybridization of posterior uveal melanoma samples identified multiple chromosomal abnormalities associated with a higher risk of fatal metastasis. This correlation between specific genetic abnormalities in uveal melanoma and a patient's risk for development of metastasis has recently been widely studied, and the development of new prognostic tests has allowed clinicians to predict this metastatic risk with increased accuracy...
2016: International Journal of Retina and Vitreous
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