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https://www.readbyqxmd.com/read/29341232/histological-features-and-outcome-of-inverted-type-a-melanocytic-nevi
#1
Soheil S Dadras, Jun Lu, Artur Zembowicz, Thomas J Flotte, Martin C Mihm
The presence of enlarged epithelioid/spindled nests located deep in the reticular dermis of a biphasic melanocytic neoplasm can mimic melanoma arising in a preexisting nevus, causing over-interpretation of malignancy. We aimed to define the clinicopathologic significance of epithelioid/spindled nests in melanocytic nevi. Retrospectively using clinical and histologic information, we characterized 121 patients with a single lesion showing epithelioid/spindled melanocytes in the reticular dermis or subcutaneous fat, surrounded by melanophages, sometimes blending in with the adnexa...
January 17, 2018: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/29337423/the-next-generation-of-melanocyte-data-genetic-epigenetic-and-transcriptional-resource-datasets-and-analysis-tools
#2
Stacie K Loftus
Genomics is a common thread linking all aspects of pigment cell biology, including melanocyte- and melanosome-related functions, pigmentary disorders, normal human pigmentation variation and melanoma. Recently, genomic-scale Next Generation Sequencing (NGS) analyses have rapidly expanded, because of reductions in sequencing costs, increased assay sensitivity, and smaller sample requirement. These NGS technologies have been adapted to assay RNA transcript expression, chromatin accessibility, DNA methylation, histone modifications, and transcription factor binding...
January 16, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29337115/purification-of-gfr%C3%AE-1-and-gfr%C3%AE-1-spermatogonial-stem-cells-reveals-a%C3%A2-niche-dependent-mechanism-for-fate-determination
#3
Alina Garbuzov, Matthew F Pech, Kazuteru Hasegawa, Meena Sukhwani, Ruixuan J Zhang, Kyle E Orwig, Steven E Artandi
Undifferentiated spermatogonia comprise a pool of stem cells and progenitor cells that show heterogeneous expression of markers, including the cell surface receptor GFRα1. Technical challenges in isolation of GFRα1+ versus GFRα1- undifferentiated spermatogonia have precluded the comparative molecular characterization of these subpopulations and their functional evaluation as stem cells. Here, we develop a method to purify these subpopulations by fluorescence-activated cell sorting and show that GFRα1+ and GFRα1- undifferentiated spermatogonia both demonstrate elevated transplantation activity, while differing principally in receptor tyrosine kinase signaling and cell cycle...
January 9, 2018: Stem Cell Reports
https://www.readbyqxmd.com/read/29336782/loss-of-gpnmb-causes-autosomal-recessive-amyloidosis-cutis-dyschromica-in-humans
#4
Chi-Fan Yang, Shuan-Pei Lin, Chien-Ping Chiang, Yu-Hung Wu, Weng Siong H'ng, Chun-Ping Chang, Yuan-Tsong Chen, Jer-Yuarn Wu
Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound heterozygosity or homozygosity of GPNMB truncating alleles is the cause of autosomal-recessive ACD. Six nonsense or frameshift mutations were identified in nine individuals diagnosed with ACD...
January 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29336307/activation-of-g-protein-coupled-estrogen-receptor-signaling-inhibits-melanoma-and-improves-response-to-immune-checkpoint-blockade
#5
Christopher A Natale, Jinyang Li, Junqian Zhang, Ankit Dahal, Tzvete Dentchev, Ben Z Stanger, Todd W Ridky
Female sex and history of prior pregnancies are associated with favorable melanoma outcomes. Here, we show that much of the melanoma protective effect likely results from estrogen signaling through the G protein-coupled estrogen receptor (GPER) on melanocytes. Selective GPER activation in primary melanocytes and melanoma cells induced long-term changes that maintained a more differentiated cell state as defined by increased expression of well-established melanocyte differentiation antigens, increased pigment production, decreased proliferative capacity, and decreased expression of the oncodriver and stem cell marker c-Myc...
January 16, 2018: ELife
https://www.readbyqxmd.com/read/29332123/braf-nras-and-gnaq-mutations-in-conjunctival-melanocytic-nevi
#6
Jasmine H Francis, Hans E Grossniklaus, Larissa A Habib, Brian Marr, David H Abramson, Klaus J Busam
Purpose: To evaluate BRAF, NRAS, and GNAQ mutations in surgical specimens of common and blue conjunctival melanocytic nevi. Methods: Surgical specimens from 25 conjunctival melanocytic nevi (23 common and 2 blue) of 25 patients were evaluated. All common nevi were analyzed immunohistochemically for the expression of BRAF V600E or NRAS Q61R. One lesion with negative immunoreactivity and for all blue nevi, a hybridization capture-based next-generation sequencing method was employed for mutation analysis...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29330295/epigenetic-reprogramming-of-pericentromeric-satellite-dna-in-premalignant-and-malignant-lesions
#7
Nadine H Brueckmann, Christina B Pedersen, Henrik J Ditzel, Morten F Gjerstorff
Repression of repetitive DNA is important for maintaining genomic stability, but is often perturbed in cancer. For instance, the megabase satellite domain at chromosome 1q12 is a common site of genetic rearrangements, such as translocations and deletions. Polycomb-group (PcG) proteins can be observed as large subnuclear domains called polycomb bodies, the composition and cellular function of which has remained elusive. This study, demonstrates that polycomb bodies are canonical subunits of the multiprotein polycomb repressive complex 1 (PRC1) deposited on 1q12 pericentromeric satellite DNA, which are normally maintained as constitutive heterochromatin by other mechanisms...
January 12, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29330283/centriole-overduplication-is-the-predominant-mechanism-leading-to-centrosome-amplification-in-melanoma
#8
Ryan A Denu, Maria Shabbir, Minakshi Nihal, Chandra K Singh, B Jack Longley, Mark E Burkard, Nihal Ahmad
Centrosome amplification (CA) is common in cancer and can arise by centriole overduplication or by cell doubling events, including the failure of cell division and cell-cell fusion. To assess the relative contributions of these two mechanisms, the number of centrosomes with mature/mother centrioles was examined by immunofluorescence in a tissue microarray (TMA) of human melanomas and benign nevi (n=79 and 17, respectively). The centrosomal protein 170 (CEP170) was used to identify centrosomes with mature centrioles; this is expected to be present in most centrosomes with cell doubling, but on fewer centrosomes with overduplication...
January 12, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29324470/fibroma-like-pecoma-a-tuberous-sclerosis-complex-related-lesion
#9
Ana B Larque, Richard L Kradin, Ivan Chebib, G Petur Nielsen, Martin K Selig, Elizabeth A Thiele, Anat Stemmer-Rachamimov, Miriam A Bredella, Pawel Kurzawa, Vikram Deshpande
Perivascular epithelioid cell tumor (PEComa), mesenchymal tumors morphologically characterized by epithelioid cells, coexpress melanocytic and muscle markers. Herein, we describe a heretofore-undescribed tuberous sclerosis complex (TSC)-related neoplasm, morphologically resembling a soft tissue fibroma-like lesion, but showing an immunophenotype resembling PEComa. We identified 3 soft tissue fibroma-like lesions in individuals with TSC. We also evaluated 6 TSC-related periungual fibroma as well as a range of non-TSC fibroma-like lesions (n=19)...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29322633/preclinical-evaluation-of-melanocyte-transplantation-by-chitosan-based-melanocyte-spheroid-patch-to-skin-prepared-by-controlled-sunburn-blistering
#10
Sabrina Mai-Yi Fan, Po-Hua Chen, Yu-Ting Tseng, Jin-Bon Hong, Wannhsin Chen, Tsen-Fang Tsai, Sung-Jan Lin
Transplantation of autologous cultured melanocytes as cell suspension has been used for the treatment of vitiligo. The recipient site is often prepared by laser-mediated dermabrasion. Such procedures encounter disadvantages including prolonged transplantation duration, unsecured cell adherence to lesional skin and potential scarring. To improve this, here we propose a method by preparing recipient sites before transplantation by psoralen and ultraviolet A (PUVA)-induced sunburn followed by transplanting cells with a chitosan-based melanocyte spheroid patch...
January 10, 2018: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/29321171/sgk1-foxo3-signaling-in-hypothalamic-pomc-neurons-mediates-glucocorticoid-increased-adiposity
#11
Yalan Deng, Yuzhong Xiao, Feixiang Yuan, Yaping Liu, Xiaoxue Jiang, Jiali Deng, Geza Fejes-Toth, Aniko Naray-Fejes-Toth, Shanghai Chen, Yan Chen, Hao Ying, Qiwei Zhai, Yousheng Shu, Feifan Guo
Although central nervous system has been implicated in glucocorticoid-induced fat mass gain, the underlying mechanisms are poorly understood. The aim of our current study was to investigate the possible involvement of hypothalamic serum- and glucocorticoid-regulated kinase 1 (SGK1) in glucocorticoid-increased adiposity. It is well-known that SGK1 expression is induced by acute glucocorticoid treatment, interestingly, we found its expression was decreased in the arcuate nucleus of the hypothalamus, including POMC neurons, following chronic dexamethasone (Dex) treatment...
January 10, 2018: Diabetes
https://www.readbyqxmd.com/read/29320480/pharmacological-activation-of-rev-erbs-is-lethal-in-cancer-and-oncogene-induced-senescence
#12
Gabriele Sulli, Amy Rommel, Xiaojie Wang, Matthew J Kolar, Francesca Puca, Alan Saghatelian, Maksim V Plikus, Inder M Verma, Satchidananda Panda
The circadian clock imposes daily rhythms in cell proliferation, metabolism, inflammation and DNA damage response. Perturbations of these processes are hallmarks of cancer and chronic circadian rhythm disruption predisposes individuals to tumour development. This raises the hypothesis that pharmacological modulation of the circadian machinery may be an effective therapeutic strategy for combating cancer. REV-ERBs, the nuclear hormone receptors REV-ERBα (also known as NR1D1) and REV-ERBβ (also known as NR1D2), are essential components of the circadian clock...
January 10, 2018: Nature
https://www.readbyqxmd.com/read/29318598/efficacy-and-safety-of-noncultured-melanocyte-keratinocyte-transplant-procedure-for-vitiligo-and-other-leukodermas-a-critical-analysis-of-the-evidence
#13
REVIEW
Paras P Vakharia, Dylan E Lee, Amor Khachemoune
Vitiligo is an acquired pigmentary skin of depigmentation occurring secondary to melanocyte destruction. Vitiligo and other leukodermas have a profound impact on quality of life. Current therapies include medical options, such as phototherapy, topical and systemic corticosteroids, topical calcineurin inhibitors, immunomodulators, and antioxidiants, and surgical options. Surgical options provide melanocytic cells to previously depigmented areas and use either tissue grafting or cellular grafting methods. Topical treatments are often insufficient, and many of the current surgical procedures have shown variable response rates...
January 10, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29318595/the-early-repigmentation-pattern-of-vitiligo-is-related-to-the-source-of-melanocytes-and-by-the-choice-of-therapy-a-retrospective-cohort-study
#14
Ke Yang, Xixi Xiong, Gorkhali Pallavi, Yuting Ling, Fei Ding, Weiwei Duan, Weiling Sun, Gaozhong Ding, Qingli Gong, Wenyuan Zhu, Yan Lu
BACKGROUND: Patients with vitiligo present with different repigmentation patterns in the early recovery stage. OBJECTIVES: To analyze the relationships between early repigmentation patterns in vitiliginous patches, their clinical characteristics, and therapeutic choices. METHODS: Patients with vitiligo seen in the Department of Dermatology, The First Affiliated Hospital of Nanjing Medical University from 2010 to 2015, were included, and their clinical records, especially photographs and medical treatments, were reviewed...
January 10, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29318585/dermoscopic-characterization-of-cutaneous-lymphomas-a-pilot-survey
#15
Grant K Ghahramani, Kirsten E Goetz, Vincent Liu
BACKGROUND: While substantial dermoscopic analysis of melanocytic lesions has been performed, dermoscopic characterization of cutaneous lymphoid proliferations has been limited. Cutaneous lymphoma, particularly early mycosis fungoides (MF) and its variants, is often challenging to clinically and pathologically distinguish from inflammatory processes of the skin. This study aimed to survey the dermoscopic findings of cutaneous lymphomas and to discern whether any patterns might potentially serve as specific signatures...
January 10, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29316744/anti-pigmentation-effect-of-phellinus-linteus-fermented-eight-traditional-crude-herbalextracts-in-brown-guinea-pigsof-ultraviolet-b-uvb-induced-hyperpigmentation
#16
Hee-Young Ahn, Young-Moo Choo, Young-Su Cho
We have previously found that mycelia culture broth of eight kinds of traditional herbal extracts fermented with Phellinus linteus (previously named as 8-HsPLCB) not only inhibited melanin and tyrosinase activity, but also reduced the contents of melanogenesis-related proteins including tyrosinase and microphthalmia-associated transcription factor (MITF) in 3- isobutyl-1-methylxanthine (IBMX)-stimulated B16F0 melanoma cells. For a further study, the effect of 8-HsPLCB against skin pigmentation in brown guinea pigs of ultraviolet B (UVB)-induced hyperpigmentation was investigated...
January 11, 2018: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/29316344/widespread-dynamic-and-pleiotropic-expression-of-the-melanocortin-1-receptor-mc1r-system-is-conserved-across-chick-mouse-and-human-embryonic-development
#17
Anna C Thomas, Pauline Heux, Chloe Santos, Wisenave Arulvasan, Nita Solanky, Magalie E Carey, Dianne Gerrelli, Veronica A Kinsler, Heather C Etchevers
BACKGROUND: MC1R, a G-protein coupled receptor with high affinity for alpha-melanocyte stimulating hormone (αMSH), modulates pigment production in melanocytes from many species and is associated with human melanoma risk. MC1R mutations affecting human skin and hair color also have pleiotropic effects on the immune response and analgesia. Variants affecting human pigmentation in utero alter the congenital phenotype of both oculocutaneous albinism and congenital melanocytic naevi, and have a possible effect on birthweight...
January 8, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29316280/giant-congenital-melanocytic-nevus-with-vascular-malformation-and-epidermal-cysts-associated-with-a-somatic-activating-mutation-in-braf
#18
Heather C Etchevers, Christian Rose, Birgit Kahle, Helmuth Vorbringer, Frédéric Fina, Pauline Heux, Irina Berger, Benjamin Schwarz, Stéphane Zaffran, Nicolas Macagno, Sven Krengel
Giant congenital melanocytic nevi may be symptomatically isolated, or syndromic. Associations with capillary malformations are exceptional, and development of epidermal cysts has not been described. A 71-year old patient with a giant congenital melanocytic nevus of the lower back, buttocks and thighs was asymptomatic except for unexpected hemorrhage during partial surgical excision years before. Blunt trauma at age 64 initiated recurrent, severe pain under the nevus; multiple large epidermal cysts then developed within it...
January 5, 2018: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/29315345/identification-and-functional-analysis-of-sox10-phosphorylation-sites-in-melanoma
#19
Julia C Cronin, Stacie K Loftus, Laura L Baxter, Steve Swatkoski, Marjan Gucek, William J Pavan
The transcription factor SOX10 plays an important role in vertebrate neural crest development, including the establishment and maintenance of the melanocyte lineage. SOX10 is also highly expressed in melanoma tumors, and SOX10 expression increases with tumor progression. The suppression of SOX10 in melanoma cells activates TGF-β signaling and can promote resistance to BRAF and MEK inhibitors. Since resistance to BRAF/MEK inhibitors is seen in the majority of melanoma patients, there is an immediate need to assess the underlying biology that mediates resistance and to identify new targets for combinatorial therapeutic approaches...
2018: PloS One
https://www.readbyqxmd.com/read/29314428/mosaic-nrasopathy-n-a-child-with-giant-melanocytic-congenital-naevus-epidermal-hamartoma-and-bilateral-nephroblastomatosis-clinical-implication-for-follow-up
#20
C Maridet, F Morice-Picard, A Gros, L Crivelli, A de la Fouchardière, B Vergier, A Taïeb
Various nevoid proliferations result from postzygotic mutation in genes within the RAF/RAS/MAPK pathway, supporting the term "mosaic RASopathy"(1). Giant congenital melanocytic naevus (GCMN) and neurocutaneous melanosis are rare mosaic RASopathies mainly known to be at risk for the development of melanoma and skeletal anomalies are variably recorded (2,3). This article is protected by copyright. All rights reserved.
January 5, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
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