Insights into genetic alterations of liver metastases from uveal melanoma.


:The liver is the organ usually affected by metastatic uveal melanoma (MUM). Current treatments are almost always ineffective and mortality remains high. In this study, copy number variations (CNVs) were identified in 12 metastatic and five matched primary UMs (PUMs). Our data revealed a wide spectrum of genetic alterations in MUM. Most common were amplifications of chromosome (chr.) 8q; alterations on chr. 3 included monosomy, isodisomy, and large regions of homozygosity (ROH). Genomic profiles of PUM-MUM pairs varied in their degree of similarity and complexity. However, within the pairs, 135 genes were consistently altered. Protein expression of C-MYC and BAP1 was examined by immunohistochemistry (IHC); a positive association between IHC and CNVs was seen for C-MYC. This comprehensive catalogue of CNVs associated with MUM should facilitate the identification of key alterations that drive tumor growth. This would have the potential to select urgently needed novel, targeted, therapeutic regimens.


McCarthy C,Kalirai H,Lake SL,Dodson A,Damato BE,Coupland SE




Has Abstract


2016-01-01 00:00:00












  • Pathogenesis of a variant in the 5' untranslated region of ADAR1 in dyschromatosis symmetrica hereditaria.

    abstract::Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis caused by mutations in ADAR1. In this study, we performed mutation analysis on a family that included typical DSH patients. No mutations were found in any coding regions or exon-intron boundary regions of ADAR1, but a previously unreported non-...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Suganuma M,Kono M,Yamanaka M,Akiyama M

    更新日期:2020-07-01 00:00:00

  • The 308-nm excimer laser treatment does not increase the risk of skin cancer in patients with vitiligo: A population-based retrospective cohort study.

    abstract::A 308-nm excimer laser (EL) has been widely used to treat patients with localized vitiligo. However, data are rare on the influence of EL treatment on the risks of skin cancer. To evaluate the skin cancer risks after long-term EL treatment, we performed a nationwide population-based retrospective cohort study using th...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Bae JM,Eun SH,Oh SH,Shin JH,Kang HY,Kim KH,Lee SC,Choi CW

    更新日期:2019-09-01 00:00:00

  • BRAF mutations in cutaneous melanoma are independently associated with age, anatomic site of the primary tumor, and the degree of solar elastosis at the primary tumor site.

    abstract::Oncogenic BRAF mutations are more frequent in cutaneous melanoma occurring at sites with little or moderate sun-induced damage than at sites with severe cumulative solar ultraviolet (UV) damage. We studied cutaneous melanomas from geographic regions with different levels of ambient UV radiation to delineate the relati...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Bauer J,Büttner P,Murali R,Okamoto I,Kolaitis NA,Landi MT,Scolyer RA,Bastian BC

    更新日期:2011-04-01 00:00:00

  • Vitiligo as an inflammatory skin disorder: a therapeutic perspective.

    abstract::From a therapeutic standpoint, vitiligo is still regarded by many physicians as a simple problem of regenerative medicine, with the main aim to repopulate the depigmented skin with functional melanocytes from the margins of the lesions or from intact progenitors in hair follicles. However, recent research in vitiligo ...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Taïeb A

    更新日期:2012-01-01 00:00:00

  • Is it time to test biguanide metformin in the treatment of melanoma?

    abstract::Metformin is the most widely used antidiabetic drug that belongs to the biguanide class. It is very well tolerated and has the major clinical advantage of not inducing hypoglycemia. Metformin decreases hepatic glucose production via a mechanism requiring liver kinase B1, which controls the metabolic checkpoint, AMP-ac...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Cerezo M,Tomic T,Ballotti R,Rocchi S

    更新日期:2015-01-01 00:00:00

  • BRG1 promotes survival of UV-irradiated melanoma cells by cooperating with MITF to activate the melanoma inhibitor of apoptosis gene.

    abstract::Microphthalmia-associated transcription factor (MITF) is a survival factor in melanocytes and melanoma cells. MITF regulates expression of antiapoptotic genes and promotes lineage-specific survival in response to ultraviolet (UV) radiation and to chemotherapeutics. SWI/SNF chromatin-remodeling enzymes interact with MI...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Saladi SV,Wong PG,Trivedi AR,Marathe HG,Keenen B,Aras S,Liew ZQ,Setaluri V,de la Serna IL

    更新日期:2013-05-01 00:00:00

  • Leptomeningeal disease in melanoma patients: An update to treatment, challenges, and future directions.

    abstract::In February 2018, the Melanoma Research Foundation and the Moffitt Cancer Center hosted the Second Summit on Melanoma Central Nervous System Metastases in Tampa, Florida. The meeting included investigators from multiple academic centers and disciplines. A consensus summary of the progress and challenges in melanoma pa...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Glitza IC,Smalley KSM,Brastianos PK,Davies MA,McCutcheon I,Liu JKC,Ahmed KA,Arrington JA,Evernden BR,Smalley I,Eroglu Z,Khushalani N,Margolin K,Kluger H,Atkins MB,Tawbi H,Boire A,Forsyth P

    更新日期:2020-07-01 00:00:00

  • PLX3397 inhibits the accumulation of intra-tumoral macrophages and improves bromodomain and extra-terminal inhibitor efficacy in melanoma.

    abstract::Bromodomain and extra-terminal inhibitors (BETi) delay tumor growth, in part, through tumor cell intrinsic alterations and initiation of anti-tumor CD8+ T-cell responses. By contrast, BETi effects on pro-tumoral immune responses remain unclear. Here, we show that the next-generation BETi, PLX51107, delayed tumor growt...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Erkes DA,Rosenbaum SR,Field CO,Chervoneva I,Villanueva J,Aplin AE

    更新日期:2020-03-01 00:00:00

  • NRG1 / ERBB3 signaling in melanocyte development and melanoma: inhibition of differentiation and promotion of proliferation.

    abstract::Neuregulin (NRG) signaling through the receptor tyrosine kinase, ERBB3, is required for embryonic development, and dysregulated signaling has been associated with cancer progression. Here, we show that NRG1/ERBB3 signaling inhibits melanocyte (MC) maturation and promotes undifferentiated, migratory and proliferative c...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Buac K,Xu M,Cronin J,Weeraratna AT,Hewitt SM,Pavan WJ

    更新日期:2009-12-01 00:00:00

  • Advances in melanoma senescence and potential clinical application.

    abstract::Normal cells possess a limited proliferative life span, after which they enter a state of irreversible growth arrest, called replicative senescence, which acts as a potent barrier against transformation. Transformed cells have escaped the process of replicative senescence and theoretically can not re-enter senescence....

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Giuliano S,Ohanna M,Ballotti R,Bertolotto C

    更新日期:2011-04-01 00:00:00

  • Melasma, a photoaging disorder.

    abstract::Melasma is a common hyperpigmentary disorder. The impact on the quality of life of affected individuals is well demonstrated, demanding new therapeutic strategies. However, the treatment of melasma remains highly challenging. Melasma is often considered as the main consequence of female hormone stimulation on a predis...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Passeron T,Picardo M

    更新日期:2018-07-01 00:00:00

  • Distinct microRNA expression signatures are associated with melanoma subtypes and are regulated by HIF1A.

    abstract::The complex genetic changes underlying metastatic melanoma need to be deciphered to develop new and effective therapeutics. Previously, genome-wide microarray analyses of human melanoma identified two reciprocal gene expression programs, including transcripts regulated by either transforming growth factor, beta 1 (TGF...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Hwang HW,Baxter LL,Loftus SK,Cronin JC,Trivedi NS,Borate B,Pavan WJ

    更新日期:2014-09-01 00:00:00

  • Re-evaluation of insect melanogenesis research: Views from the dark side.

    abstract::Melanins (eumelanin and pheomelanin) are synthesized in insects for several purposes including cuticle sclerotization and color patterning, clot formation, organogenesis, and innate immunity. Traditional views of insect immunity detail the storage of pro-phenoloxidases inside specialized blood cells (hemocytes) and th...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Whitten MMA,Coates CJ

    更新日期:2017-07-01 00:00:00

  • Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF.

    abstract::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 (CMN) of the lower back, buttocks, and thighs was asympto...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Etchevers HC,Rose C,Kahle B,Vorbringer H,Fina F,Heux P,Berger I,Schwarz B,Zaffran S,Macagno N,Krengel S

    更新日期:2018-05-01 00:00:00

  • Bimodal effect of retinoic acid on melanocyte differentiation identified by time-dependent analysis.

    abstract::Retinoic acid (RA) is considered to control melanocytes; however, its precise mechanism remains unclear because of a bimodal effect, which promotes or inhibits melanin synthesis depending on the cell type, culture condition of melanocytes and skin conditions. In this study, we examined the effects of RA throughout eac...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Inoue Y,Hasegawa S,Yamada T,Date Y,Mizutani H,Nakata S,Matsunaga K,Akamatsu H

    更新日期:2012-05-01 00:00:00

  • Genetics of human iris colour and patterns.

    abstract::The presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits ha...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Sturm RA,Larsson M

    更新日期:2009-10-01 00:00:00

  • Identification of PLX4032-resistance mechanisms and implications for novel RAF inhibitors.

    abstract::BRAF inhibitors improve melanoma patient survival, but resistance invariably develops. Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing whole-exome sequencing of drug-resistant BRAF(V600K) melanoma cells. We further describe a new screening approach, a genome-wide pigg...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Choi J,Landrette SF,Wang T,Evans P,Bacchiocchi A,Bjornson R,Cheng E,Stiegler AL,Gathiaka S,Acevedo O,Boggon TJ,Krauthammer M,Halaban R,Xu T

    更新日期:2014-03-01 00:00:00

  • Cyclical training enhances the melanophore responses of zebrafish to background colours.

    abstract::Zebrafish respond to visual stimuli to adapt their body colour to the background. If, rather than being a simple on/off reaction to visual stimulation, the colour change involves cognitive and memory-related processes, training fish with cyclical changes of the background would be expected to increase its ability to c...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Hatamoto K,Shingyoji C

    更新日期:2008-06-01 00:00:00

  • Mechanism of action of 4-substituted phenols to induce vitiligo and antimelanoma immunity.

    abstract::Monobenzone is a 4-substituted phenol that can induce vitiligo and antimelanoma immunity. We investigated the influence of the chemical structure on the biological activity of a series of structurally related 4-substituted phenols. All phenols inhibited cellular melanin synthesis, and eight of ten phenols inhibited ty...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Kammeyer A,Willemsen KJ,Ouwerkerk W,Bakker WJ,Ratsma D,Pronk SD,Smit NPM,Luiten RM

    更新日期:2019-07-01 00:00:00

  • T-type calcium channel blockers inhibit autophagy and promote apoptosis of malignant melanoma cells.

    abstract::We have recently reported that human melanoma cells express a variety of voltage-gated calcium (Ca(2+) ) channel types, including low-voltage-activated T-type channels that play a significant role in melanoma cell cycle progression. Here, we challenged melanoma metastatic cells with T-type channel blockers of clinical...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Das A,Pushparaj C,Herreros J,Nager M,Vilella R,Portero M,Pamplona R,Matias-Guiu X,Martí RM,Cantí C

    更新日期:2013-11-01 00:00:00

  • LIGR, a protease-activated receptor-2-derived peptide, enhances skin pigmentation without inducing inflammatory processes.

    abstract::The protease-activated receptor-2 (PAR-2) is a seven transmembrane G-protein-coupled receptor that could be activated by serine protease cleavage or by synthetic peptide agonists. We showed earlier that activation of PAR-2 with Ser-Leu-Ile-Gly-Arg-Leu-NH(2) (SLIGRL), a known PAR-2 activating peptide, induces keratinoc...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Lin CB,Chen N,Scarpa R,Guan F,Babiarz-Magee L,Liebel F,Li WH,Kizoulis M,Shapiro S,Seiberg M

    更新日期:2008-04-01 00:00:00

  • Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

    abstract::Oculocutaneous albinism type 1 (OCA1) is an autosomal recessive disorder caused by mutations in the tyrosinase gene. Two subtypes of OCA1 have been described: severe OCA1A with complete absence of tyrosinase activity and less severe OCA1B with residual tyrosinase activity. Here, we characterize the recombinant human t...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Dolinska MB,Kus NJ,Farney SK,Wingfield PT,Brooks BP,Sergeev YV

    更新日期:2017-01-01 00:00:00

  • Beta-catenin regulates melanocyte dendricity through the modulation of PKCzeta and PKCdelta.

    abstract::The Wnt/beta-catenin signaling pathway is involved in the melanocyte differentiation and melanoma development. However, the effect of beta-catenin for dendrite formation has not been clearly elucidated yet in normal human epidermal melanocytes (NHEM). To investigate the effect of beta-catenin, we transduced NHEM with ...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Kim JH,Sohn KC,Choi TY,Kim MY,Ando H,Choi SJ,Kim S,Lee YH,Lee JH,Kim CD,Yoon TJ

    更新日期:2010-06-01 00:00:00

  • Human hair melanins: what we have learned and have not learned from mouse coat color pigmentation.

    abstract::Hair pigmentation is one of the most conspicuous phenotypes in humans. Melanocytes produce two distinct types of melanin pigment: brown to black, indolic eumelanin and yellow to reddish brown, sulfur-containing pheomelanin. Biochemically, the precursor tyrosine and the key enzyme tyrosinase and the tyrosinase-related ...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Ito S,Wakamatsu K

    更新日期:2011-02-01 00:00:00

  • Integrins: versatile receptors controlling melanocyte adhesion, migration and proliferation.

    abstract::From the onset of melanocyte specification from the neural crest, throughout their migration during embryogenesis and until they reside in their niche in the basal keratinocyte layer, melanocytes interact in dynamic ways with the extracellular environment of the growing embryo. To recognize and to adhere to their envi...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Pinon P,Wehrle-Haller B

    更新日期:2011-04-01 00:00:00

  • Loss of Klotho during melanoma progression leads to increased filamin cleavage, increased Wnt5A expression, and enhanced melanoma cell motility.

    abstract::We have previously shown that Wnt5A-mediated signaling can promote melanoma metastasis. It has been shown that Wnt signaling is antagonized by the protein Klotho, which has been implicated in aging. We show here that in melanoma cells, expressions of Wnt5A and Klotho are inversely correlated. In the presence of recomb...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Camilli TC,Xu M,O'Connell MP,Chien B,Frank BP,Subaran S,Indig FE,Morin PJ,Hewitt SM,Weeraratna AT

    更新日期:2011-02-01 00:00:00

  • Osteoblasts contribute to a protective niche that supports melanoma cell proliferation and survival.

    abstract::Melanoma is the deadliest form of skin cancer; a primary driver of this high level of morbidity is the propensity of melanoma cells to metastasize. When malignant tumours develop distant metastatic lesions the new local tissue niche is known to impact on the biology of the cancer cells. However, little is known about ...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Ferguson J,Wilcock DJ,McEntegart S,Badrock AP,Levesque M,Dummer R,Wellbrock C,Smith MP

    更新日期:2020-01-01 00:00:00

  • Inflammation and melanoma metastasis.

    abstract::Metastatic melanoma is extremely refractory to existing chemotherapeutic drugs and bioimmune adjuvant therapies, and the life span of patients with metastatic melanoma is often measured in months. Understanding the mechanisms responsible for the development of tumor metastasis is critical for finding successful curati...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章,评审


    authors: Melnikova VO,Bar-Eli M

    更新日期:2009-06-01 00:00:00

  • The state of melanoma: challenges and opportunities.

    abstract::The Melanoma Research Foundation (MRF) has charted a comprehensive assessment of the current state of melanoma research and care. Intensive discussions among members of the MRF Scientific Advisory Council and Breakthrough Consortium, a group that included clinicians and scientists, focused on four thematic areas - dia...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Merlino G,Herlyn M,Fisher DE,Bastian BC,Flaherty KT,Davies MA,Wargo JA,Curiel-Lewandrowski C,Weber MJ,Leachman SA,Soengas MS,McMahon M,Harbour JW,Swetter SM,Aplin AE,Atkins MB,Bosenberg MW,Dummer R,Gershenwald JE,Ha

    更新日期:2016-07-01 00:00:00

  • MicroRNA-125a promotes resistance to BRAF inhibitors through suppression of the intrinsic apoptotic pathway.

    abstract::Melanoma patients with BRAFV600E -mutant tumors display striking responses to BRAF inhibitors (BRAFi); however, almost all invariably relapse with drug-resistant disease. Here, we report that microRNA-125a (miR-125a) expression is upregulated in human melanoma cells and patient tissues upon acquisition of BRAFi resist...

    journal_title:Pigment cell & melanoma research

    pub_type: 杂志文章


    authors: Koetz-Ploch L,Hanniford D,Dolgalev I,Sokolova E,Zhong J,Díaz-Martínez M,Bernstein E,Darvishian F,Flaherty KT,Chapman PB,Tawbi H,Hernando E

    更新日期:2017-05-01 00:00:00