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PURPL Represses Radiation-Induced Apoptosis to Promote Radioresistance in Cutaneous Melanoma by Direct Interfering With BID Cleavage
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-14 DOI: 10.1111/pcmr.70018
Xue Li, Shuo Han, Xiaoting Liang, Jieyu Liu, Ke Wang, Yi Jin, Chunting Zhang, Minna Xu, Jiabin Liu, Li Ma, Liang Zhou
{"title":"PURPL Represses Radiation-Induced Apoptosis to Promote Radioresistance in Cutaneous Melanoma by Direct Interfering With BID Cleavage","authors":"Xue Li,&nbsp;Shuo Han,&nbsp;Xiaoting Liang,&nbsp;Jieyu Liu,&nbsp;Ke Wang,&nbsp;Yi Jin,&nbsp;Chunting Zhang,&nbsp;Minna Xu,&nbsp;Jiabin Liu,&nbsp;Li Ma,&nbsp;Liang Zhou","doi":"10.1111/pcmr.70018","DOIUrl":"https://doi.org/10.1111/pcmr.70018","url":null,"abstract":"<div>\u0000 \u0000 <p>The rise of radioresistance in treating cutaneous melanoma challenges the efficacy of radiotherapy. Transcriptomic sequencing highlights PURPL as one of the top upregulated long noncoding RNAs in response to ionizing radiation (IR) treatment in melanoma cells, suggesting its role in radioresistance. To explore such hypothesis, loss-of-function experiments were conducted to assess the impact of PURPL on melanoma cell viability, colony formation, and migration. Mechanistic studies using RNA pulldown identified BID as the interacting protein partner of PURPL. Further analysis explored the relationship among PURPL, BID, and Caspase-8 in the context of IR-induced DNA damage and apoptosis through loss-of- and gain-of-function experiments. The findings demonstrated that silencing PURPL significantly repressed melanoma cell viability, colony formation, migration, and invasiveness, indicating its potential role in promoting radioresistance. Moreover, PURPL was shown to repress IR-induced DNA damage and apoptosis, supporting its involvement in melanoma radioresistance. Mechanistically, PURPL inhibited the interaction between BID and Caspase-8, thereby modulating the mitochondrial apoptosis pathway and promoting radioresistance. In conclusion, this study provides evidence supporting the pro-radioresistance role of PURPL in melanoma. In vivo assays further corroborated the in vitro findings, highlighting the potential clinical relevance of targeting PURPL in radioresistant melanoma. By interfering with the association between BID and Caspase-8, PURPL may serve as a novel therapeutic target for clinical radiotherapy during the treatment of melanoma.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143831198","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
Oral Melanoma in Older Adults: Epidemiology, Molecular Landscape, and Treatment Strategies
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-14 DOI: 10.1111/pcmr.70017
José Alcides Almeida de Arruda, Victor Zanetti Drumond, Jefferson R. Tenório, Lucas Guimarães Abreu, Tarcília Aparecida Silva, Ricardo Alves Mesquita, Bruno Augusto Benevenuto de Andrade
{"title":"Oral Melanoma in Older Adults: Epidemiology, Molecular Landscape, and Treatment Strategies","authors":"José Alcides Almeida de Arruda,&nbsp;Victor Zanetti Drumond,&nbsp;Jefferson R. Tenório,&nbsp;Lucas Guimarães Abreu,&nbsp;Tarcília Aparecida Silva,&nbsp;Ricardo Alves Mesquita,&nbsp;Bruno Augusto Benevenuto de Andrade","doi":"10.1111/pcmr.70017","DOIUrl":"https://doi.org/10.1111/pcmr.70017","url":null,"abstract":"<p>Oral melanoma is an aggressive neoplasm arising from melanocytes in the mucosal epithelium, accounting for 0.2%–0.8% of all melanomas. Unlike cutaneous melanoma, it is not associated with UV exposure, and its pathogenesis involves complex genetic and molecular alterations. This neoplasm predominantly affects older adults (≥ 60 years). Clinically, lesions often present as macular or nodular with an exophytic growth pattern, sometimes ulcerated, and exhibit varied pigmentation. Diagnosis is further complicated by non-pigmented (amelanotic) variants that can resemble other oral pigmentations. Wide surgical excision remains the mainstay treatment, often combined with chemotherapy; however, recurrence and distant metastasis remain high. While immunotherapy has shown promise in other melanoma subtypes, its efficacy in oral melanoma remains uncertain. Treatment in older adults is particularly challenging due to comorbidities and treatment-related morbidity. This review summarizes the epidemiology, clinical features, and current treatment strategies for oral melanoma in older adults. Key advances in the molecular mechanisms underlying this neoplasm are also outlined. As a strategic approach, integrating oral melanoma screening into routine geriatric dental care, supported by diagnostic algorithms, may improve early detection, prognosis, and survival outcomes in this vulnerable population.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70017","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143831199","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
Melanoma and Matrimony: Retrospective Study of Demographics, Marital Status, and Clinical Features of Patients With Acral Melanoma at a Single Academic Center 黑色素瘤与婚姻:单一学术中心口腔黑色素瘤患者人口统计学、婚姻状况和临床特征的回顾性研究
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-11 DOI: 10.1111/pcmr.70019
Samantha Jo Albucker, Amar D. Desai, Julianne M. Falotico, Cynthia Magro, Silvia Mancebo, Shari R. Lipner
{"title":"Melanoma and Matrimony: Retrospective Study of Demographics, Marital Status, and Clinical Features of Patients With Acral Melanoma at a Single Academic Center","authors":"Samantha Jo Albucker,&nbsp;Amar D. Desai,&nbsp;Julianne M. Falotico,&nbsp;Cynthia Magro,&nbsp;Silvia Mancebo,&nbsp;Shari R. Lipner","doi":"10.1111/pcmr.70019","DOIUrl":"https://doi.org/10.1111/pcmr.70019","url":null,"abstract":"<div>\u0000 \u0000 <p>Acral melanoma (AM) is localized to the hands and feet including the palms, soles, fingers, toes, and nails, and is associated with a high degree of morbidity and mortality. It has a greater proportional incidence in non-White patients and is often diagnosed at later stages than other cutaneous melanomas. Our study aimed to analyze demographic and clinical features associated with AM to better inform screening and early detection. Demographic and clinical data of patients with histopathologically confirmed AM seen at Weill Cornell Medicine were collected (6/1/2005–7/20/2022). ANOVA and <i>t</i>-tests assessed differences in time-to-treatment and Breslow depth by demographics/characteristics. Ninety-five AMs were analyzed from 88 distinct patients, with a mean age of 62.48 years (range: 18–98), 63.6% females, and 62.5% non-Whites. Time-to-treatment was longer for White versus non-White patients (41.8 vs. 29.1 days, <i>p</i> = 0.0007), with a similar Breslow depth (White 1.29 mm vs. non-White 0.94 mm, <i>p</i> = 0.26). On average, single/widowed versus married patients had greater Breslow depth (1.53 mm vs. 1.00 mm, <i>p</i> = 0.0041), as did patients &gt; 65 versus ≤ 65 years (1.26 mm vs. 0.93 mm, <i>p</i> = 0.0022). Since we found that AM is more common in non-White versus White patients, we recommend increased education and screening among non-White individuals. Also, since single/widowed patients had greater Breslow depth than married patients, marriage may play a protective role in earlier cancer diagnosis, and enhanced melanoma education and screening, particularly targeting single individuals, could benefit patient outcomes.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143818674","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 Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70010
Shatadru Ghosh Roy, Jindřich Brejcha, Peter Mojzeš, Moty Abdu, Uri Abdu
{"title":"The Role of Two Tyrosinase-Like Glycoenzymes in Defining the Final Hue of Parrot Plumage","authors":"Shatadru Ghosh Roy,&nbsp;Jindřich Brejcha,&nbsp;Peter Mojzeš,&nbsp;Moty Abdu,&nbsp;Uri Abdu","doi":"10.1111/pcmr.70010","DOIUrl":"https://doi.org/10.1111/pcmr.70010","url":null,"abstract":"<p>Recent advances in avian melanogenesis have pinpointed multiple genetic loci associated with color polymorphisms, predominantly in the plumage of chickens, quails, and pigeons. However, the genetic basis of melaninization in parrot plumage remains elusive. Previously, we showed that mutations in the melanosomal ion-transporter SLC45A2 lead to a complete loss of blue structural color in green parrot feathers, leaving only yellow psittacofulvin. Yet, several color morphs involving partial or complete melanin reduction are common in captive-bred parrots that have not been studied. To bridge this gap, we investigated two new color morphs of parrot plumage: non-sex-linked recessive <i>lutino</i> (<i>NSL</i>), which entirely inhibits blue structural coloration, and the sex-linked recessive <i>cinnamon</i>, which reduces the intensity of blue structural coloration. Our genotypic analysis revealed that tyrosinase (TYR) variants are responsible for the <i>NSL</i> phenotype in Fischer's lovebird and green-cheeked parakeet, while tyrosinase related protein 1 (TYRP1) variants are associated with the <i>cinnamon</i> phenotype in the rose-ringed parakeet. When transfected into HEK293T cells, the candidate substitutions significantly affected tyrosinase enzymatic activity. This study underscores tyrosinase and related enzymes' role in parrot feather coloration, enhancing our understanding of avian melanogenesis as well as the conserved functions of melanogenic components across different species.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143793459","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
Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70013
Yingzi Zhang, Teng Liu, Qingsong Yang, Xuyun Hu, Wei Li, Aihua Wei
{"title":"Unusual Autosomal Dominant Inheritance of Oculocutaneous Albinism Type 4 (OCA-4): Clinical and Functional Features From A Chinese Family","authors":"Yingzi Zhang,&nbsp;Teng Liu,&nbsp;Qingsong Yang,&nbsp;Xuyun Hu,&nbsp;Wei Li,&nbsp;Aihua Wei","doi":"10.1111/pcmr.70013","DOIUrl":"https://doi.org/10.1111/pcmr.70013","url":null,"abstract":"<div>\u0000 \u0000 <p>Oculocutaneous albinism (OCA) is a complex genetic disorder characterized by reduced or absent pigmentation in the skin, hair, and eyes. Among the eight known subtypes, OCA-4 is caused by a mutation in <i>SLC45A2</i>, which plays a crucial role in melanin biosynthesis. While autosomal recessive inheritance is the most common pattern for all OCA subtypes, autosomal dominant cases are extremely rare. We report three patients from a Chinese family exhibiting autosomal dominant OCA-4. Clinical assessments evaluated pigmentation and ocular features in affected family members. Next-generation sequencing was performed to identify pathogenic variants, and functional studies in MNT-1 cells were performed to explore the variant's biological effects. Patients exhibited mild hypopigmentation and foveal hypoplasia, consistent with the OCA-4 phenotype. Genetic analysis identified a heterozygous c.208T&gt;C (p.Tyr70His) variant in <i>SLC45A2</i>, the same variant that has been previously reported in association with autosomal dominant OCA-4. Functional studies demonstrated that this variant caused protein retention in the endoplasmic reticulum, resulting in reduced melanin production. This family represents the first documented cases of autosomal dominant OCA-4 in the Chinese population and only the second reported worldwide. Our findings confirm that the p.Tyr70His variant causes autosomal dominant OCA-4. This study deepens our understanding of OCA-4's genetic mechanisms and increases the complexity of its inheritance patterns in genetic counseling.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143793395","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
Dominant Negative Mitf Allele Impacts Melanophore and Xanthophore Development and Reveals Collaborative Interactions With Tfec in Zebrafish Chromatophore Lineages 显性负Mitf等位基因影响斑马鱼色素体和黄质体的发育,并揭示了斑马鱼色素体系中与Tfec的协同作用
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-03-23 DOI: 10.1111/pcmr.70009
Katia G. Korzeniwsky, Pietro L.H. de Mello, Yipeng Liang, McKenna Feltes, Steven A. Farber, David M. Parichy
{"title":"Dominant Negative Mitf Allele Impacts Melanophore and Xanthophore Development and Reveals Collaborative Interactions With Tfec in Zebrafish Chromatophore Lineages","authors":"Katia G. Korzeniwsky,&nbsp;Pietro L.H. de Mello,&nbsp;Yipeng Liang,&nbsp;McKenna Feltes,&nbsp;Steven A. Farber,&nbsp;David M. Parichy","doi":"10.1111/pcmr.70009","DOIUrl":"https://doi.org/10.1111/pcmr.70009","url":null,"abstract":"<p>Ectothermic vertebrates exhibit a diverse array of pigment cell types—chromatophores—that provide valuable opportunities to uncover mechanisms of fate specification and how they evolve. Like melanocytes of mammals, the melanophores of teleosts and other ectotherms depend on basic helix–loop–helix leucine zipper transcription factors encoded by orthologues of <i>MITF</i>. A different chromatophore, the iridescent iridophore, depends on the closely related transcription factor Tfec. Requirements for the specification of other chromatophore lineages remain largely uncertain. Here we identify a new allele of the zebrafish Mitf gene, <i>mitfa</i>, that results in a complete absence of not only melanophores but also yellow-orange xanthophores. Harboring a missense substitution in the DNA-binding domain identical to previously isolated alleles of mouse, we show that this new allele has defects in chromatophore precursor survival and xanthophore differentiation that extend beyond those of <i>mitfa</i> loss-of-function. Additional genetic analyses revealed interactions between Mitfa and Tfec as a likely basis for the observed phenotypes. Our findings point to collaborative roles for Mitfa and Tfec in promoting chromatophore development, particularly in xanthophore lineages, and provide new insights into evolutionary aspects of MITF functions across vertebrates.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70009","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143689797","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
Piceatannol—Can It Be Used to Treat Hyperpigmentation of the Skin?
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-03-16 DOI: 10.1111/pcmr.70008
Ravi Kumar Rajan
{"title":"Piceatannol—Can It Be Used to Treat Hyperpigmentation of the Skin?","authors":"Ravi Kumar Rajan","doi":"10.1111/pcmr.70008","DOIUrl":"https://doi.org/10.1111/pcmr.70008","url":null,"abstract":"<p>Over the years, the cosmetic industry has shifted its focus from synthtic to natural compounds. This change is driven not only by the safety profile of natural ingredients but also by increased consumer awareness about the products they use. As a result, many natural skincare products have been launched in recent years. Hyperpigmentation disorders, such as melasma, age spots (solar lentigines), post-inflammatory hyperpigmentation, freckles, and acanthosis nigricans, are significant concerns. These conditions not only pose pathological issues but also affect individuals' self-esteem. Consequently, treating hyperpigmentation by reducing melanogenesis has become a key area of interest in cosmetology. Among various natural compounds, piceatannol (PCT) shows great potential in treating hyperpigmentation. The primary mechanism previously explored is the inhibition of the tyrosinase enzyme, which is one of the most researched strategies for combating melanogenesis. Additionally, PCT has been shown to downregulate MITF expression, a key gene responsible for the transcription of various melanogenic proteins and enzymes. However, beyond these two mechanisms, little is known about how PCT may inhibit melanogenesis. In this review, we aim to bridge that gap. We will explore and speculate on the possible upstream signaling pathways to MITF, such as Nrf, FOXO3a, CREB, MAPK signaling, etc., where PCT could potentially act to inhibit melanogenesis. This review will not only pave the way for future research related to PCT and hyperpigmentation but also highlight pathways that could be targeted for developing cosmetics and treatments for hyperpigmentation disorders.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633041","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
Conjunctival Melanoma: A Narrative Review of Current Knowledge
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-03-09 DOI: 10.1111/pcmr.70006
Michail Angelos Papaoikonomou, Leonidas Pavlidis, Zoi Apalla, Athanasios Papas
{"title":"Conjunctival Melanoma: A Narrative Review of Current Knowledge","authors":"Michail Angelos Papaoikonomou,&nbsp;Leonidas Pavlidis,&nbsp;Zoi Apalla,&nbsp;Athanasios Papas","doi":"10.1111/pcmr.70006","DOIUrl":"https://doi.org/10.1111/pcmr.70006","url":null,"abstract":"<p>This review explores the current literature on conjunctival melanoma, a rare and complex periocular neoplasm, emphasizing the absence of a standardized treatment protocol and the associated management challenges. It examines the clinical, genetic, and histological features of conjunctival melanoma, alongside diagnostic methodologies and treatment strategies, drawing on the most recent bibliographic data. The literature was systematically reviewed using the PubMed database, offering insights into future research directions and highlighting innovative treatment approaches, particularly for advanced-stage disease.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143581509","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
Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-03-05 DOI: 10.1111/pcmr.70007
Isabella Ribaudo, Michelle Arbesman, Ying Ni, James Isaacs, Lucy Boyce Kennedy, Jennifer Ko, Pauline Funchain, Thach-Giao Truong, Joshua Arbesman
{"title":"Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants","authors":"Isabella Ribaudo,&nbsp;Michelle Arbesman,&nbsp;Ying Ni,&nbsp;James Isaacs,&nbsp;Lucy Boyce Kennedy,&nbsp;Jennifer Ko,&nbsp;Pauline Funchain,&nbsp;Thach-Giao Truong,&nbsp;Joshua Arbesman","doi":"10.1111/pcmr.70007","DOIUrl":"https://doi.org/10.1111/pcmr.70007","url":null,"abstract":"<div>\u0000 \u0000 <p>Mucosal melanomas (MM) are rare but aggressive malignancies, comprising only 1.3% of all melanoma diagnoses, with a poor 5-year survival rate below 20%. MM lacks identifiable risk factors, presents with distinct mutational profiles, and is often diagnosed at an advanced stage, contributing to worse outcomes. This study explores the prevalence of pathogenic germline variants associated with melanoma and general cancer susceptibility in a cohort of 16 MM patients enrolled in the Gross Family Melanoma Registry at Cleveland Clinic between 2017 and 2023. Germline testing was performed using an ≥ 81 gene panel, including 12 genes with established or preliminary melanoma predisposition evidence. Our findings reveal a high prevalence (50%) of pathogenic germline variants among MM patients, with CHEK2 and APC variants identified in 12.5% of cases each, and individual variants detected in MUTYH, ATM, RB1, and RECQL4. These results suggest a germline-driven cancer susceptibility in MM, exceeding the 15% prevalence observed in cutaneous melanoma using the same inclusion criteria.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143554787","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 Skin Microbiome: A New Key Player in Melanoma, From Onset to Metastatic Stage
IF 3.9 3区 医学
Pigment Cell & Melanoma Research Pub Date : 2025-02-27 DOI: 10.1111/pcmr.13224
Jean-Matthieu L'Orphelin, Anne Dompmartin, Brigitte Dréno
{"title":"The Skin Microbiome: A New Key Player in Melanoma, From Onset to Metastatic Stage","authors":"Jean-Matthieu L'Orphelin,&nbsp;Anne Dompmartin,&nbsp;Brigitte Dréno","doi":"10.1111/pcmr.13224","DOIUrl":"https://doi.org/10.1111/pcmr.13224","url":null,"abstract":"<p>The skin microbiome plays a crucial role in maintaining skin health, defending the body against harmful pathogens, and interacting with melanoma. The composition of the skin microbiome can be affected by factors like age, gender, ethnicity, lifestyle, diet, and UV exposure. Certain bacteria like <i>Staphylococcus</i> and <i>Veillonella</i> are important for wound healing, while <i>Cutibacterium acnes</i> can play a role in dermatoses. UV radiation alters the skin microbiome, originates a “UV-resistome” and can lead to skin cancer initiation. Specifically, <i>Staphylococcus epidermidis</i> has shown protective effects against skin cancer, whereas <i>Cutibacterium acnes</i> can induce apoptosis in melanocytes postirradiation. The microbiome also interacts with melanoma treatment, affecting responses to immune checkpoint inhibitors. Strategies like bacteriotherapy, involving the manipulation of the gut microbiome but also the skin microbiome (with the gut–skin axis or through topical treatment) could improve treatment outcomes and show promise in melanoma therapy. Understanding the complex interplay between the skin microbiome, UV exposure, and melanoma development is crucial for developing personalized therapeutic approaches. Investigation into the skin microbiome and its potential role in melanoma progression continues to be an exciting area of research with implications for future therapeutic interventions.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 2","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.13224","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143513841","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
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