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Melanocyte evolution

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https://www.readbyqxmd.com/read/29156643/melanoma-genetic-abnormalities-tumor-progression-clonal-evolution-and-tumor-initiating-cells
#1
REVIEW
Ugo Testa, Germana Castelli, Elvira Pelosi
Melanoma is an aggressive neoplasia issued from the malignant transformation of melanocytes, the pigment-generating cells of the skin. It is responsible for about 75% of deaths due to skin cancers. Melanoma is a phenotypically and molecularly heterogeneous disease: cutaneous, uveal, acral, and mucosal melanomas have different clinical courses, are associated with different mutational profiles, and possess distinct risk factors. The discovery of the molecular abnormalities underlying melanomas has led to the promising improvement of therapy, and further progress is expected in the near future...
November 20, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#2
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28851604/regulatory-logic-underlying-diversification-of-the-neural-crest
#3
REVIEW
Megan L Martik, Marianne E Bronner
The neural crest is a transient, multipotent population of cells that arises at the border of the developing nervous system. After closure of the neural tube, these cells undergo an epithelial-to-mesenchymal transition (EMT) to delaminate and migrate, often to distant locations in the embryo. Neural crest cells give rise to a diverse array of derivatives including neurons and glia of the peripheral nervous system, melanocytes, and bone and cartilage of the face. A gene regulatory network (GRN) controls the specification, delamination, migration, and differentiation of this fascinating cell type...
October 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28763337/folliculotropic-metastatic-melanoma-a-case-report-and-review-of-the-literature
#4
Elizabeth L McKinnon, Kelly L West, Russell A Ball, Nathan Wright, Raymond L Barnhill
Folliculotropic metastasis of cutaneous melanoma is rare, with only 5 published case reports in the English language literature since it was first described in 2009. We report a 41-year-old man with a primary cutaneous melanoma of the right upper preauricular region with metastatic spread to the parotid gland and pulmonary lymph nodes. Excision of the primary lesion was performed and immunotherapy was initiated. Sixteen months later, the patient presented with 2 new lesions of the left forehead and left neck...
September 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28729899/evolutionary-loss-of-melanogenesis-in-the-tunicate-molgula-occulta
#5
Claudia Racioppi, Maria Carmen Valoroso, Ugo Coppola, Elijah K Lowe, C Titus Brown, Billie J Swalla, Lionel Christiaen, Alberto Stolfi, Filomena Ristoratore
BACKGROUND: Analyzing close species with diverse developmental modes is instrumental for investigating the evolutionary significance of physiological, anatomical and behavioral features at a molecular level. Many examples of trait loss are known in metazoan populations living in dark environments. Tunicates are the closest living relatives of vertebrates and typically present a lifecycle with distinct motile larval and sessile adult stages. The nervous system of the motile larva contains melanized cells associated with geotactic and light-sensing organs...
2017: EvoDevo
https://www.readbyqxmd.com/read/28707403/melanocytic-lesion-evolution-patterns-with-targeted-therapies-and-immunotherapies-for-advanced-metastatic-melanoma-an-observational-study
#6
Cathy Yunjia Zhao, Shelley Ji Eun Hwang, Deepal Wakade, Giuliana Carlos, Rachael Anforth, Pablo Fernández-Peñas
BACKGROUND/OBJECTIVES: Various cutaneous side-effects have been reported with anti-melanoma systemic therapies. This study investigated the changes in melanocytic lesion pigmentation in patients on four different therapies. METHODS: We analysed the serial dermatoscopic photographs of atypical melanocytic lesions taken from patients with advanced metastatic melanoma on four different systemic therapies (selective BRAF-inhibitor monotherapy, dabrafenib combined with trametinib [D&T], anti-programmed cell death protein 1 [anti-PD1] therapies, and anti-PD1 combined with ipilimumab) seen from February 2013 to May 2016...
July 14, 2017: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/28664989/evolution-of-spitz-nevi
#7
Nazan Emiroglu, Pelin Yıldız, Dilek Biyik Ozkaya, Anıl Gulsel Bahalı, Ozlem Su, Nahide Onsun
BACKGROUND/OBJECTIVES: Spitz nevi are melanocytic lesions with clinical, dermoscopic, and histopathologic presentations that may resemble those of melanoma. The evolution of Spitz nevi is a well-known feature. The objectives of this study were to investigate the clinical and dermoscopic features of Spitz nevi and define their evolution. METHODS: A retrospective observational study was performed and 70 Spitz nevi were analyzed using clinical and dermoscopic examination...
June 30, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28544727/ultraviolet-radiation-accelerates-nras-mutant-melanomagenesis-a-cooperative-effect-blocked-by-sunscreen
#8
Rebecca C Hennessey, Andrea M Holderbaum, Anamaria Bonilla, Conor Delaney, James E Gillahan, Kathleen L Tober, Tatiana M Oberyszyn, Jonathan H Zippin, Christin E Burd
To mitigate melanoma risk, sunscreen use is widely advocated; yet, the ability of sunscreens to prevent melanoma remains controversial. Here, we test the tenet that sunscreens limit melanoma risk by blocking ultraviolet radiation (UV)-induced DNA damage using murine models that recapitulate the genetics and spontaneous evolution of human melanoma. We find that a single, non-erythematous dose of UV dramatically accelerates melanoma onset and increases tumor multiplicity in mice carrying an endogenous, melanocyte-specific NRas(61R) allele...
September 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28447347/abundance-of-the-benign-melanocytic-universe-dermoscopic-histopathological-correlation-in-nevi
#9
REVIEW
Nora Woltsche, Karin Schmid-Zalaudek, Teresa Deinlein, Katrin Rammel, Rainer Hofmann-Wellenhof, Iris Zalaudek
The broad universe of "melanocytic nevi" includes a variety of different subtypes, which can be classified either due to their morphology, epidemiology, genetic alterations or risk for developing melanoma. Regarding morphology, on the one hand macroscopic/clinical and on the other hand histopathological appearance were used to subdivide in the past, often resulting in confusion and poor interobserver agreement, while nowadays dermoscopy presents the clinician's precious bridge between naked-eye examination and histopathological diagnostics, allowing prediction of the lesions' histopathology, follow up and monitoring over time without need of excision...
May 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28388616/the-evolution-of-sex-linked-barring-alleles-in-chickens-involves-both-regulatory-and-coding-changes-in-cdkn2a
#10
Doreen Schwochow Thalmann, Henrik Ring, Elisabeth Sundström, Xiaofang Cao, Mårten Larsson, Susanne Kerje, Andrey Höglund, Jesper Fogelholm, Dominic Wright, Per Jemth, Finn Hallböök, Bertrand Bed'Hom, Ben Dorshorst, Michèle Tixier-Boichard, Leif Andersson
Sex-linked barring is a fascinating plumage pattern in chickens recently shown to be associated with two non-coding and two missense mutations affecting the ARF transcript at the CDKN2A tumor suppressor locus. It however remained a mystery whether all four mutations are indeed causative and how they contribute to the barring phenotype. Here, we show that Sex-linked barring is genetically heterogeneous, and that the mutations form three functionally different variant alleles. The B0 allele carries only the two non-coding changes and is associated with the most dilute barring pattern, whereas the B1 and B2 alleles carry both the two non-coding changes and one each of the two missense mutations causing the Sex-linked barring and Sex-linked dilution phenotypes, respectively...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28292959/multiepitope-tissue-analysis-reveals-sppl3-mediated-adam10-activation-as-a-key-step-in-the-transformation-of-melanocytes
#11
Christian Ostalecki, Jung-Hyun Lee, Jochen Dindorf, Lena Collenburg, Stephan Schierer, Beate Simon, Stefan Schliep, Elisabeth Kremmer, Gerold Schuler, Andreas S Baur
The evolution of cancer is characterized by the appearance of specific mutations, but these mutations are translated into proteins that must cooperate to induce malignant transformation. Using a systemic approach with the multiepitope ligand cartography (MELC) technology, we analyzed protein expression profiles (PEPs) in nevi and BRAF(V600E)-positive superficial spreading melanomas (SSMs) from patient tissues to identify key transformation events. The PEPs in nevi and SSMs differed predominantly in the abundance of specific antigens, but the PEPs of nevi- and melanoma-associated keratinocytes gradually changed during the transformation process...
March 14, 2017: Science Signaling
https://www.readbyqxmd.com/read/28132411/a-case-report-of-disappearing-pigmented-skin-lesions-associated-with-pembrolizumab-treatment-for-metastatic-melanoma
#12
Z J Wolner, A A Marghoob, M P Pulitzer, M A Postow, M A Marchetti
Pembrolizumab is an immune checkpoint inhibitor that targets the programmed cell death (PD)-1 receptor. Common cutaneous adverse side-effects of PD-1 inhibitors include maculopapular rash, pruritus, vitiligo and lichenoid skin and mucosal reactions. Here we describe a man in his sixties with metastatic melanoma treated with pembrolizumab who subsequently developed fading or disappearance of pigmented skin lesions, lightening of the skin, and poliosis of the eyebrows, eyelashes and scalp and body hair. Compared with baseline high-resolution three-dimensional total-body photography, we observed fading or disappearance of solar lentigines, seborrhoeic keratoses and melanocytic naevi, suggesting that PD-1 inhibitors may affect the evolution of these benign skin lesions...
January 28, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28067428/hotair-role-in-melanoma-progression-and-its-identification-in-the-blood-of-patients-with-advanced-disease
#13
Monica Cantile, Giosuè Scognamiglio, Laura Marra, Gabriella Aquino, Chiara Botti, Maria Rosaria Falcone, Maria Gabriella Malzone, Giuseppina Liguori, Maurizio Di Bonito, Renato Franco, Paolo Antonio Ascierto, Gerardo Botti
The molecular mechanisms responsible for the metastatic progression of melanoma have not been fully defined yet. We have recently shown that an important role in this process is certainly played by HOX genes, whose regulation is under control of particular non-coding RNAs, some of which are present within the HOX locus. HOTAIR is the most studied among them, whose aberrant expression is associated with the metastatic progression of many malignancies. The aim of this study was to verify the role played by HOTAIR in metastatic progression of melanoma and to evaluate the circulating levels of HOTAIR in the blood of patients with metastatic melanoma...
December 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28054069/challenge-and-perspective-the-relevance-of-ultraviolet-uv-radiation-and-the-vitamin-d-endocrine-system-vdes-for-psoriasis-and-other-inflammatory-skin-diseases
#14
Jörg Reichrath, Roman Saternus, Thomas Vogt
During evolution, the ability of many organisms to synthesize vitamin D photochemically represented, and still represents, a major driving factor for the development of life on earth. In humans because not more than 10-20% of the requirement of vitamin D can be satisfied by the diet (under most living conditions in the US and Europe), the remaining 80-90% need to be photochemically synthesized in the skin through the action of solar or artificial ultraviolet-B (UV-B) radiation. The skin is a key organ of the human body's vitamin D endocrine system (VDES), representing both the site of vitamin D synthesis and a target tissue for biologically active vitamin D metabolites...
January 5, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/27806375/developmental-mechanisms-of-stripe-patterns-in-rodents
#15
Ricardo Mallarino, Corneliu Henegar, Mercedes Mirasierra, Marie Manceau, Carsten Schradin, Mario Vallejo, Slobodan Beronja, Gregory S Barsh, Hopi E Hoekstra
Mammalian colour patterns are among the most recognizable characteristics found in nature and can have a profound impact on fitness. However, little is known about the mechanisms underlying the formation and subsequent evolution of these patterns. Here we show that, in the African striped mouse (Rhabdomys pumilio), periodic dorsal stripes result from underlying differences in melanocyte maturation, which give rise to spatial variation in hair colour. We identify the transcription factor ALX3 as a regulator of this process...
November 24, 2016: Nature
https://www.readbyqxmd.com/read/27699140/an-orbital-malignant-melanoma-arising-in-cellular-blue-nevus-in-a-patient-with-nevus-of-ota
#16
Talayesa Buntinx-Krieg, Jie Ouyang, Mont Cartwright
Melanomas arising from orbital melanocytic proliferations are exceedingly rare. Many questions remain regarding their development and malignant transformation. We report on a 45-year-old Caucasian woman with a nevus of Ota that presented with visual disturbances involving her right eye and was found to have a biopsy-proven cellular blue nevus in the orbital space. Five years later, she presented with proptosis and worsening symptoms. Biopsy at that time showed a cellular blue nevus with areas of melanoma. We conclude that patients with a nevus of Ota or an orbital cellular blue nevus, particularly Caucasians, should be monitored for ocular/orbital involvement and followed closely for signs of rapid growth...
July 18, 2016: Curēus
https://www.readbyqxmd.com/read/27698666/in-silico-analysis-of-gene-expression-network-components-underlying-pigmentation-phenotypes-in-the-python-identified-evolutionarily-conserved-clusters-of-transcription-factor-binding-sites
#17
Kristopher J L Irizarry, Randall L Bryden
Color variation provides the opportunity to investigate the genetic basis of evolution and selection. Reptiles are less studied than mammals. Comparative genomics approaches allow for knowledge gained in one species to be leveraged for use in another species. We describe a comparative vertebrate analysis of conserved regulatory modules in pythons aimed at assessing bioinformatics evidence that transcription factors important in mammalian pigmentation phenotypes may also be important in python pigmentation phenotypes...
2016: Advances in Bioinformatics
https://www.readbyqxmd.com/read/27680950/molecular-bases-of-k-secretory-cells-in-the-inner-ear-shared-and-distinct-features-between-birds-and-mammals
#18
Viviane Wilms, Christine Köppl, Chris Söffgen, Anna-Maria Hartmann, Hans Gerd Nothwang
In the cochlea, mammals maintain a uniquely high endolymphatic potential (EP), which is not observed in other vertebrate groups. However, a high [K(+)] is always present in the inner ear endolymph. Here, we show that Kir4.1, which is required in the mammalian stria vascularis to generate the highly positive EP, is absent in the functionally equivalent avian tegmentum vasculosum. In contrast, the molecular repertoire required for K(+) secretion, specifically NKCC1, KCNQ1, KCNE1, BSND and CLC-K, is shared between the tegmentum vasculosum, the vestibular dark cells and the marginal cells of the stria vascularis...
September 29, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27638875/commentary-on-almassalha-et-al-the-greater-genomic-landscape-the-heterogeneous-evolution-of-cancer
#19
COMMENT
Henry T Lynch, Marc Rendell, Trudy G Shaw, Peter Silberstein, Binh T Ngo
In this issue of Cancer Research, Almassalha and colleagues have proposed a new concept of the development of malignancy, that of the greater genomic landscape. They propose a stressor-related exploration of intracellular genomic sites as a response mechanism. This process can express sites with beneficial or deleterious effects, among them those that promote cell proliferation. They point out that their conception is broader, although certainly inclusive, of the process of gene induction. The authors view the physical process of chromatin reorganization as central to the exploration of the genomic landscape...
October 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27447175/targeting-the-vitamin-d-endocrine-system-vdes-for-the-management-of-inflammatory-and-malignant-skin-diseases-an-historical-view-and-outlook
#20
REVIEW
Jörg Reichrath, Christos C Zouboulis, Thomas Vogt, Michael F Holick
Vitamin D represents one of the major driving factors for the development of life on earth and for human evolution. While up to 10-20 % of the human organism's requirements in vitamin D can be obtained by the diet (under most living conditions in the USA and Europe), approximately 90 % of all needed vitamin D has to be photosynthesized in the skin through the action of the sun (ultraviolet-B (UV-B)). The skin represents a key organ of the human body's vitamin D endocrine system (VDES), being both the site of vitamin D synthesis and a target tissue for biologically active vitamin D metabolites...
September 2016: Reviews in Endocrine & Metabolic Disorders
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