Pigment Cell & Melanoma Research最新文献_第9页

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma 芬兰葡萄膜黑色素瘤患者中葡萄膜黑色素瘤驱动基因和 BAP1 相关基因的致病性基因变异。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-09-30 DOI: 10.1111/pcmr.13198

Pauliina E. Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz-Tuikkanen, Reetta-Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T. Al-Jamal, Tero T. Kivelä, Joni A. Turunen

{"title":"Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma","authors":"Pauliina E. Repo, Eveliina Jakkula, Juho Hiltunen, Heidi Putkuri, Aleksandra Staskiewicz-Tuikkanen, Reetta-Stiina Järvinen, Martin Täll, Virpi Raivio, Rana'a T. Al-Jamal, Tero T. Kivelä, Joni A. Turunen","doi":"10.1111/pcmr.13198","DOIUrl":"10.1111/pcmr.13198","url":null,"abstract":"Uveal melanoma (UM) is a rare yet aggressive eye cancer causing over 50% mortality from metastasis. Familial UM, amounting to 1%–6% of patients in Finland and the United States, mostly lack identified genetic cause, while 8% show associations with other cancer syndromes. We searched novel genetic associations for predisposition to UM, additional to already studied BAP1 and MBD4, by using targeted amplicon sequencing of 19 genes associated with UM, BAP1, or renal cell carcinoma in 270 consecutively enrolled Finnish patients with UM. Key UM drivers GNAQ, GNA11, CYSLTR2, PLCB4, EIF1AX, and SF3B1 lacked pathogenic germline variants. One patient carried the pathogenic BRCA1 variant c.3626del p.(Leu1209*), and one harbored a novel truncating MET variant c.252C > G p.(Tyr84*), classified as likely pathogenic. FLCN and BRCA2, previously identified with pathogenic variants in patients with UM, did not have such variants in our cohort. Two patients were heterozygous for a pathogenic recessive BLM variant c.2824-2A > T. None of the carriers of identified variants had familial UM. We identified BRCA1 and MET as genes with pathogenic germline variants in Finnish UM patients, each with a frequency of 0.4% (95% confidence interval, 0–2).","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11681845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142338014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma 葡萄膜黑色素瘤和皮肤黑色素瘤患者的基因变异

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-09-24 DOI: 10.1111/pcmr.13199

Peter A. Johansson, Jane M. Palmer, Lindsay McGrath, Sunil Warrier, Hayley R. Hamilton, Timothy Beckman, Matthew G. D'Mellow, Kelly M. Brooks, William Glasson, Nicholas K. Hayward, Antonia L. Pritchard

{"title":"Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma","authors":"Peter A. Johansson, Jane M. Palmer, Lindsay McGrath, Sunil Warrier, Hayley R. Hamilton, Timothy Beckman, Matthew G. D'Mellow, Kelly M. Brooks, William Glasson, Nicholas K. Hayward, Antonia L. Pritchard","doi":"10.1111/pcmr.13199","DOIUrl":"10.1111/pcmr.13199","url":null,"abstract":"Uveal melanoma (UM) and nonacral cutaneous melanoma (CM) are distinct entities with varied genetic landscapes despite both arising from melanocytes. There are, however, similarities in that they most frequently affect people of European ancestry, and high penetrance germline variants in BAP1, POT1 and CDKN2A have been shown to predispose to both UM and CM. This study aims to further explore germline variants in patients affected by both UM and CM, shedding light on the underlying genetic mechanism causing these diseases. Using exome sequencing we analysed germline DNA samples from a cohort of 83 Australian patients diagnosed with both UM and CM. Eight (10%) patients were identified that carried pathogenic mutations in known melanoma predisposition genes POT1, MITF, OCA2, SLC45A2 and TYR. Three (4%) patients carried pathogenic variants in genes previously linked with other cancer syndromes (ATR, BRIP1 and MSH6) and another three cases carried monoallelic pathogenic variants in recessive cancer genes (xeroderma pigmentosum and Fanconi anaemia), indicating that reduced penetrance of phenotype in these individuals may contribute to the development of both UM and CM. These findings highlight the need for further studies characterising the role of these genes in melanoma susceptibility.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11681841/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142306808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Segregation Between an Ornamental and a Disease Driver Gene Provides Insights Into Pigment Cell Regulation 观赏基因与疾病驱动基因之间的分离为色素细胞调控提供了启示

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-09-17 DOI: 10.1111/pcmr.13196

Erika Soria, Qiusheng Lu, Will Boswell, Kang Du, Yanting Xing, Mikki Boswell, Korri S. Weldon, Zhao Lai, Markita Savage, Manfred Schartl, Yuan Lu

{"title":"Segregation Between an Ornamental and a Disease Driver Gene Provides Insights Into Pigment Cell Regulation","authors":"Erika Soria, Qiusheng Lu, Will Boswell, Kang Du, Yanting Xing, Mikki Boswell, Korri S. Weldon, Zhao Lai, Markita Savage, Manfred Schartl, Yuan Lu","doi":"10.1111/pcmr.13196","DOIUrl":"10.1111/pcmr.13196","url":null,"abstract":"Genetic interactions are adaptive within a species. Hybridization can disrupt such species-specific genetic interactions and creates novel interactions that alter the hybrid progeny overall fitness. Hybrid incompatibility, which refers to degenerative genetic interactions that decrease the overall hybrid survival and sterility, is one of the results from combining two diverged genomes in hybrids. The discovery of spontaneous lethal tumorigenesis and underlying genetic interactions in select hybrids between diverged Xiphophorus species showed that lethal pathological process can result from degenerative genetic interactions. Such genetic interactions leading to lethal phenotype are thought to shield gene flow between diverged species. However, hybrids between certain Xiphophorus species do not develop such tumors. Here we report the identification of a locus residing in the genome of one Xiphophorus species that represses an oncogene from a different species. Our finding provides insights into normal and pathological pigment cell development, regulation and a molecular mechanism in hybrid incompatibility.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.13196","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142247998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

An In Vivo Study of LNS8801, a GPER Agonist, in a Spontaneous Melanoma-Prone Mouse Model, TGS GPER 激动剂 LNS8801 在自发性黑色素瘤小鼠模型中的体内研究，TGS.

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-09-16 DOI: 10.1111/pcmr.13197

Christina Marinaro, John Sauer, Christopher A. Natale, Todd Ridky, Suzie Chen

引用次数: 0

MetFinder: A Tool for Automated Quantitation of Metastatic Burden in Histological Sections From Preclinical Models MetFinder：临床前模型组织切片转移负荷自动定量工具

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-09-10 DOI: 10.1111/pcmr.13195

Alcida Karz, Nicolas Coudray, Erol Bayraktar, Kristyn Galbraith, George Jour, Arman Alberto Sorin Shadaloey, Nicole Eskow, Andrey Rubanov, Maya Navarro, Rana Moubarak, Gillian Baptiste, Grace Levinson, Valeria Mezzano, Mark Alu, Cynthia Loomis, Daniel Lima, Adam Rubens, Lucia Jilaveanu, Aristotelis Tsirigos, Eva Hernando

{"title":"MetFinder: A Tool for Automated Quantitation of Metastatic Burden in Histological Sections From Preclinical Models","authors":"Alcida Karz, Nicolas Coudray, Erol Bayraktar, Kristyn Galbraith, George Jour, Arman Alberto Sorin Shadaloey, Nicole Eskow, Andrey Rubanov, Maya Navarro, Rana Moubarak, Gillian Baptiste, Grace Levinson, Valeria Mezzano, Mark Alu, Cynthia Loomis, Daniel Lima, Adam Rubens, Lucia Jilaveanu, Aristotelis Tsirigos, Eva Hernando","doi":"10.1111/pcmr.13195","DOIUrl":"10.1111/pcmr.13195","url":null,"abstract":"<div>\u0000 \u0000 As efforts to study the mechanisms of melanoma metastasis and novel therapeutic approaches multiply, researchers need accurate, high-throughput methods to evaluate the effects on tumor burden resulting from specific interventions. We show that automated quantification of tumor content from whole slide images is a compelling solution to assess in vivo experiments. In order to increase the outflow of data collection from preclinical studies, we assembled a large dataset with annotations and trained a deep neural network for the quantitative analysis of melanoma tumor content on histopathological sections of murine models. After assessing its performance in segmenting these images, the tool obtained consistent results with an orthogonal method (bioluminescence) of measuring metastasis in an experimental setting. This AI-based algorithm, made freely available to academic laboratories through a web-interface called MetFinder, promises to become an asset for melanoma researchers and pathologists interested in accurate, quantitative assessment of metastasis burden.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142215777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

X and Y Differences in Melanoma Survival Between the Sexes 男女黑色素瘤存活率的 X 和 Y 差异。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-23 DOI: 10.1111/pcmr.13194

Peter Hersey, Hsin-Yi Tseng, Sara Alavi, Jessamy Tiffen

{"title":"X and Y Differences in Melanoma Survival Between the Sexes","authors":"Peter Hersey, Hsin-Yi Tseng, Sara Alavi, Jessamy Tiffen","doi":"10.1111/pcmr.13194","DOIUrl":"10.1111/pcmr.13194","url":null,"abstract":"Marked differences in survival from melanoma are noted between men and women that cannot be accounted for by behavioral differences. We and others have provided evidence that this difference may be due to increased expression of immune-related genes from the second X chromosome because of failure of X inactivation. In the present review, we have examined evidence for the contrary view that survival differences are due to weaker immune responses in males. One reason for this may be the loss of Y chromosomes (LOY), particularly in older males. The genes involved may have direct roles in immune responses or be noncoding RNAs that regulate both sex and autosomal genes involved in immune responses or tumor growth. Loss of the KDM6C and KDM5D demethylases appeared to common genes involved. The second factor appears to be the activation of androgen receptors (AR) on melanoma cells that increase their invasiveness and growth. Induction of T-cell exhaustion by AR that limits immune responses against melanoma appeared a common finding. The development of treatments to overcome effects related to gene loss on Y poses challenges, but several avenues related to AR signaling appear worthy of further study in the treatment of metastatic disease.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 1","pages":""},"PeriodicalIF":3.9,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11681842/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Photobiomodulation Using 830 nm Lighting-Emitting Diode Inhibits Melanogenesis via FOXO3a in Human Melanocyte 使用 830 纳米发光二极管进行光生物调节可通过 FOXO3a 抑制人类黑色素细胞的黑色素生成

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-21 DOI: 10.1111/pcmr.13193

Yanjun Dan, Li Chen, Shanglin Jin, Xiaoxue Xing, Yijian Zhu, Min Jiang, Chengfeng Zhang, Leihong Flora Xiang

{"title":"Photobiomodulation Using 830 nm Lighting-Emitting Diode Inhibits Melanogenesis via FOXO3a in Human Melanocyte","authors":"Yanjun Dan, Li Chen, Shanglin Jin, Xiaoxue Xing, Yijian Zhu, Min Jiang, Chengfeng Zhang, Leihong Flora Xiang","doi":"10.1111/pcmr.13193","DOIUrl":"10.1111/pcmr.13193","url":null,"abstract":"<div>\u0000 \u0000 Photobiomodulation (PBM) using 830 nm light-emitting diode (LED) benefits tissue regeneration, wound healing and neural stimulation. However, there is not much exploration of its effect on melanocytes and ex vivo skin model. This study aims to investigate the mechanism behind the anti-melanogenic activity of 830 nm LED and provides evidence for its activity in human ex vivo skin model. Our results showed that 830 nm LED at fluences ranging from 5 to 20 J/cm2 inhibited melanosome maturation and reduced melanin content, tyrosinase activity and melanogenesis-related proteins. 830 nm LED inhibited the phosphorylation of AKT and its downstream FOXO3a, leading to nuclear translocation of FOXO3a. Furthermore, FOXO3a knockdown and AKT activator like SC79 could reverse the melanogenesis inhibition phenotype induced by 830 nm LED. In human ex vivo skin model, Fontana–Masson staining revealed a decrease in epidermal basal pigmentation after 830 nm LED irradiation. Taken together, 830 nm LED demonstrated the anti-melanogenic activity via FOXO3a.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 5","pages":"681-692"},"PeriodicalIF":3.9,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142015817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative Transcriptome Analysis Reveals Differential Cutaneous Gene Expression in the Color Variation of Two Ornamental Discus, Red Melon and Red Cover 比较转录组分析揭示了红瓜和红盖两种观赏蝶形花颜色变异中不同的皮肤基因表达。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-14 DOI: 10.1111/pcmr.13190

Tian Tsyh Ng, Cher Chien Lau, Min Pau Tan, Li Lian Wong, Yeong Yik Sung, Tengku Sifzizul Tengku Muhammad, Sui Liying, Muhd Danish-Daniel

{"title":"Comparative Transcriptome Analysis Reveals Differential Cutaneous Gene Expression in the Color Variation of Two Ornamental Discus, Red Melon and Red Cover","authors":"Tian Tsyh Ng, Cher Chien Lau, Min Pau Tan, Li Lian Wong, Yeong Yik Sung, Tengku Sifzizul Tengku Muhammad, Sui Liying, Muhd Danish-Daniel","doi":"10.1111/pcmr.13190","DOIUrl":"10.1111/pcmr.13190","url":null,"abstract":"<div>\u0000 \u0000 Red Melon (RM) and Red Cover (RC) discus (Symphysodon spp.) are ornamental fish varieties that were selectively bred from the wild parental lineages of the brown discus S. aquafaciatus over many generations, resulting in distinct cutaneous patterns from juveniles to adults. To better understand the underlying mechanisms, skin samples were collected from juveniles aged 60 days and adults aged 1 year from RM and RC for investigations. Microscopic observation detected xanthophores and erythrophores in all samples, except RC juveniles with no erythrophores. Melanophores were presented only in RC. The comparative analysis revealed that genes involved in pteridine synthesis (gch1 and zgc:153031), one-carbon metabolism (aldh1l2 and zgc153031), and lipid metabolism (apoda and klf1) were differentially expressed in RM juveniles, which may be associated with the development of erythrophores and xanthophores. The temporal inhibition of melanophore differentiation and development was observed in RM juveniles, coupled with elevated expression of notum2 and sost, two antagonist genes in Wnt-signaling, suggesting their roles in melanophore development. Distinct pigment pattern between RM and RC since the juvenile stage may be driven by the differential expression of multiple axial developmental genes, including GATA, ankyrin, and mitotic spindle orientation proteins. This is the first report to describe the differential growth of cutaneous pigments and the molecular processes involved in red discus. The results provided valuable insights into pigment pattern differences in an interesting ornamental fish model.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"881-888"},"PeriodicalIF":3.9,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141974693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The prognostic implications of cuproptosis-related gene signature and the potential of PPIC as a promising biomarker in cutaneous melanoma 杯突相关基因特征对预后的影响以及 PPIC 作为皮肤黑色素瘤生物标志物的潜力。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-08-08 DOI: 10.1111/pcmr.13185

Bin Zhou, Shanshan Sha, Qi Wang, Shuomin Sun, Juan Tao, Jinjin Zhu, Liyun Dong

{"title":"The prognostic implications of cuproptosis-related gene signature and the potential of PPIC as a promising biomarker in cutaneous melanoma","authors":"Bin Zhou, Shanshan Sha, Qi Wang, Shuomin Sun, Juan Tao, Jinjin Zhu, Liyun Dong","doi":"10.1111/pcmr.13185","DOIUrl":"10.1111/pcmr.13185","url":null,"abstract":"Cutaneous melanoma is the most lethal of all skin tumors. Recently, cuproptosis, a novel form of cell death linked to oxidative phosphorylation, has emerged as an important factor. However, the precise role of cuproptosis in melanoma remains unclear. Our research explored the potential links between cuproptosis-related genes, prognosis, immune microenvironments, and melanoma treatments. Significantly, cuproptosis regulators showed remarkable differences between melanoma and normal tissues, establishing their relevance to melanoma. The newly developed cuproptosis-related gene signature (CGS) demonstrated a robust ability to predict overall survival (OS) in melanoma. We constructed a novel nomogram that combined clinical features with CGS to improve predictive accuracy. In addition, the study revealed correlations between CGS and immune cell populations, including CD8+T cells, Tfh cells, B cells, and myeloid-derived suppressor cells. Within the CGS, Peptidylprolyl isomerase C (PPIC) emerged as the most strongly associated with poor prognosis and drug resistance in melanoma. PPIC was identified as a promoter of melanoma progression, enhancing cell invasiveness while concurrently suppressing CD8+T cell activation. This comprehensive study not only elucidated the intricate connections between CGS, melanoma prognosis, immune microenvironment, and drug resistance but also provided compelling evidence supporting PPIC as a promising biomarker for predicting OS in melanoma treatment.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"864-880"},"PeriodicalIF":3.9,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141900259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The classification of melanocytic gene signatures 黑色素细胞基因特征的分类。

IF 3.9 3区医学

Pigment Cell & Melanoma Research Pub Date : 2024-07-28 DOI: 10.1111/pcmr.13189

Min Hu, Samuel Coleman, Robert L. Judson-Torres, Aik Choon Tan

{"title":"The classification of melanocytic gene signatures","authors":"Min Hu, Samuel Coleman, Robert L. Judson-Torres, Aik Choon Tan","doi":"10.1111/pcmr.13189","DOIUrl":"10.1111/pcmr.13189","url":null,"abstract":"Gene expression profiling technologies have revolutionized cell biology, enabling researchers to identify gene signatures linked to various biological attributes of melanomas, such as pigmentation status, differentiation state, proliferative versus invasive capacity, and disease progression. Although the discovery of gene signatures has significantly enhanced our understanding of melanocytic phenotypes, reconciling the numerous signatures reported across independent studies and different profiling platforms remains a challenge. Current methods for classifying melanocytic gene signatures depend on exact gene overlap and comparison with unstandardized baseline transcriptomes. In this study, we aimed to categorize published gene signatures into clusters based on their similar patterns of expression across clinical cutaneous melanoma specimens. We analyzed nearly 800 melanoma samples from six gene expression repositories and developed a classification framework for gene signatures that is resilient against biases in gene identification across profiling platforms and inconsistencies in baseline standards. Using 39 frequently cited published gene signatures, our analysis revealed seven principal classes of gene signatures that correlate with previously identified phenotypes: Differentiated, Mitotic/MYC, AXL, Amelanotic, Neuro, Hypometabolic, and Invasive. Each class is consistent with the phenotypes that the constituent gene signatures represent, and our classification method does not rely on overlapping genes between signatures. To facilitate broader application, we created WIMMS (what is my melanocytic signature, available at https://wimms.tanlab.org/), a user-friendly web application. WIMMS allows users to categorize any gene signature, determining its relationship to predominantly cited signatures and its representation within the seven principal classes.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"37 6","pages":"854-863"},"PeriodicalIF":3.9,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.13189","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141786667","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0