Pigment Cell & Melanoma Research最新文献

An Integrated Investigation of SOX10 in Feather Color in Domestic Rock Pigeon (Columba livia) 国内岩鸽羽毛颜色中SOX10的综合研究。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-10-16 DOI: 10.1111/pcmr.70061

Eric T. Domyan, Shannon Baker, Whitney Brownlee, Brittany Burton, Kendrick Kiggins, Emily Naylor, Harrison Piper, Tyrel Porter, Brittany Strobelt, Dian-Rong Tsai, Nathan Walker, Zachary Walton, Jonathon T. Hill

{"title":"An Integrated Investigation of SOX10 in Feather Color in Domestic Rock Pigeon (Columba livia)","authors":"Eric T. Domyan, Shannon Baker, Whitney Brownlee, Brittany Burton, Kendrick Kiggins, Emily Naylor, Harrison Piper, Tyrel Porter, Brittany Strobelt, Dian-Rong Tsai, Nathan Walker, Zachary Walton, Jonathon T. Hill","doi":"10.1111/pcmr.70061","DOIUrl":"10.1111/pcmr.70061","url":null,"abstract":"<div>\u0000 \u0000 The transcription factor SOX10 plays an important role in promoting determination and differentiation of melanocytes, and mutations affecting SOX10 expression or function often result in dramatic pigment phenotypes. In domestic rock pigeon, homozygosity for either of two regulatory mutations upstream of Sox10 known as recessive red causes birds to display bright red pheomelanic plumage instead of wild-type blue/black eumelanic plumage. In this study, we identify a common set of differentially expressed melanogenic genes in feathers from recessive red birds homozygous for either mutant allele, most notably a downregulation of Tyrp1, Slc24a5, Pmel, Mlana, and Hpgds and upregulation of Slc7a11. Collectively, these changes may promote pheomelanin synthesis and inhibit eumelanin synthesis. We also identify other altered pathways including genes involved in galactolipid synthesis and stem cell biology. We further examined the chromatin occupancy of SOX10 in pigeon melanocytes by ChIPseq to identify the subset of differentially expressed genes that are most likely to be direct targets of SOX10 function, and uncover evidence that SOX10 promotes its own expression by binding to the mcs7 melanocyte enhancer. Together, these data provide a more comprehensive picture of the role that SOX10 plays in melanocyte biology.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145306616","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

Chemiexcitation in Ex Vivo Porcine Skin Model 猪离体皮肤模型的化学激发。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-10-14 DOI: 10.1111/pcmr.70060

Pavel Pospíšil, Vendula Paculová, Ankush Prasad, Michal Berecka

{"title":"Chemiexcitation in Ex Vivo Porcine Skin Model","authors":"Pavel Pospíšil, Vendula Paculová, Ankush Prasad, Michal Berecka","doi":"10.1111/pcmr.70060","DOIUrl":"10.1111/pcmr.70060","url":null,"abstract":"Chemiexcitation, the formation of electronically excited states via oxidative chemical reactions, has emerged as a potentially important contributor to skin photobiology beyond direct damage caused by ultraviolet (UV) radiation. This study investigates the hypothesis that UV radiation induces chemiexcitation in skin through the formation of triplet excited carbonyls, which may transfer energy to melanin and contribute to oxidative stress even after the termination of UV exposure. Using porcine skin as a model, we demonstrate that UV exposure leads to lipid peroxidation and the subsequent formation of organic radicals, including carbon-centered (alkyl) and oxygen-centered (peroxyl and alkoxyl) species, as detected by EPR spin-trapping spectroscopy. HPLC-MS analysis revealed that short-chain carbonyl compounds, such as formaldehyde and acetaldehyde, are the predominant electronically excited species in direct chemiexcitation. These triplet carbonyls can transfer their excitation energy to melanin through photon emission (radiative transfer) or direct electron exchange (non-radiative transfer), forming melanin-based secondary excited states via indirect chemiexcitation. These findings highlight a novel, light-independent mechanism of post-UV exposure oxidative damage in the skin and suggest a possible role for chemiexcitation in processes such as photoaging and photocarcinogenesis.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12521798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145290457","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

Proceeding Report of the Sixth Vitiligo International Symposium—December 13–15, 2024, Cairo, Egypt 第六届白癜风国际研讨会会议报告- 2024年12月13-15日，埃及开罗

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-10-10 DOI: 10.1111/pcmr.70059

Samia Esmat, Marwa Abdallah, Dalia Bassiony, Lamia H. Elgarhy, Rania M. Mogawer

引用次数: 0

Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction 利用rna锚定多重聚合酶链反应检测驱动突变阴性黑色素瘤中的融合基因

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-30 DOI: 10.1111/pcmr.70056

Tokimasa Hida, Masashi Idogawa, Sayuri Sato, Yukiko Kiniwa, Junji Kato, Kohei Horimoto, Shintaro Sugita, Shoichiro Tange, Masae Okura, Ryuhei Okuyama, Takashi Tokino, Hisashi Uhara

{"title":"Fusion Gene Detection in Driver Mutation-Negative Melanomas Using RNA-Based Anchored Multiplex Polymerase Chain Reaction","authors":"Tokimasa Hida, Masashi Idogawa, Sayuri Sato, Yukiko Kiniwa, Junji Kato, Kohei Horimoto, Shintaro Sugita, Shoichiro Tange, Masae Okura, Ryuhei Okuyama, Takashi Tokino, Hisashi Uhara","doi":"10.1111/pcmr.70056","DOIUrl":"https://doi.org/10.1111/pcmr.70056","url":null,"abstract":"<div>\u0000 \u0000 Advanced melanoma is typically treated with immune checkpoint inhibitors (ICIs) and targeted therapies. However, their efficacy is limited in acral and mucosal melanomas, which are more prevalent in non-White populations and often exhibit low tumor mutational burden and lack BRAF mutations. Fusion genes, widely used as therapeutic targets in other cancers, may represent alternative targets in these melanoma subtypes. This study aimed to detect fusion genes in Japanese melanomas lacking major driver mutations (BRAF, RAS, NF1, or KIT) using a custom RNA-based anchored multiplex polymerase chain reaction (AMP) panel. RNA extracted from 14 tumors, primarily formalin-fixed paraffin-embedded specimens, was analyzed using a custom Archer FUSIONPlex panel. Libraries were successfully generated in 80% of cases, and two in-frame fusions—MAD1L1::BRAF and CIC::MEGF8—were identified (17%). MAD1L1::BRAF retained the BRAF kinase domain and may be targetable by MEK inhibitors. CIC::MEGF8, a novel fusion in melanoma, may result in transcriptional dysregulation through CIC loss of function. This Method paper outlines the AMP workflow, including troubleshooting strategies and quality control criteria, and demonstrates its applicability to clinical samples. Our findings support the utility of RNA-based fusion detection in driver-negative melanomas and the potential of fusion genes as actionable targets.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197202","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

Noninvasive Assessment of Melasma Pathological Features: Side-By-Side Comparison of Two-Photon Microscopy and Reflectance Confocal Microscopy 黄褐斑病理特征的无创评估：双光子显微镜与反射共聚焦显微镜的对比

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-30 DOI: 10.1111/pcmr.70057

Xiaoli Ning, Jungang Yang, Hongfei Ouyang, Lingfan Jiang, Jiahui Han, Ziyuan Tian, Jingkai Xu, Yujun Sheng, Xianbo Zuo, Yong Cui

{"title":"Noninvasive Assessment of Melasma Pathological Features: Side-By-Side Comparison of Two-Photon Microscopy and Reflectance Confocal Microscopy","authors":"Xiaoli Ning, Jungang Yang, Hongfei Ouyang, Lingfan Jiang, Jiahui Han, Ziyuan Tian, Jingkai Xu, Yujun Sheng, Xianbo Zuo, Yong Cui","doi":"10.1111/pcmr.70057","DOIUrl":"https://doi.org/10.1111/pcmr.70057","url":null,"abstract":"<div>\u0000 \u0000 Melasma, a refractory hyperpigmentation disorder, requires noninvasive tools for accurate pathological assessment. This study compared two-photon microscopy (TPM) and reflectance confocal microscopy (RCM) for the in vivo characterization of melasma pathology. In this cross-sectional study, TPM and RCM features and imaging clarity were evaluated in 130 melasma patients. Spearman correlation analyses were performed between TPM-quantified epidermal melanin, the melanin index (MI), and the individual typology angle (ITA). Features were also compared between active and stable disease stages. TPM and RCM showed substantial agreement in detecting increased epidermal melanin (κ = 0.651), activated melanocytes at the dermal-epidermal junction (DEJ) (κ = 0.711), and flattened rete ridges (κ = 0.691) (all p < 0.001). TPM excelled in visualizing intracellular melanin distribution, pendulous melanocytes under the DEJ, and solar elastosis, while RCM better identified activated melanocytes at the DEJ. TPM-quantified epidermal melanin content correlated positively with MI and negatively with ITA. RCM-detected dermal inflammatory cells were more prevalent in active than in stable melasma. In conclusion, TPM and RCM synergistically capture critical melasma features, with TPM assessing disease severity via epidermal melanin quantification, whereas RCM reflects disease activity by detecting inflammatory cells. This provides clinicians with tailored imaging tools for precision management.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145197203","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

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype Correlation 四代种系CDKN2A变异级联检测揭示家族性黑色素瘤-乳腺癌基因型-表型相关性

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-26 DOI: 10.1111/pcmr.70055

Jennifer Berkman, Ellie J. Maas, E. DeBortoli, Clare A. Primiero, H. Peter Soyer, Aideen McInerney-Leo

引用次数: 0

The Roles of PTEN in Melanoma Suppression PTEN在黑色素瘤抑制中的作用

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-21 DOI: 10.1111/pcmr.70054

Gennie L. Parkman, Xiaonan Xu, Sheri L. Holmen, Florian A. Karreth

引用次数: 0

Germline MC1R Variant Status and Efficacy of Immune Checkpoint Inhibitors in Patients With Advanced Melanoma 晚期黑色素瘤患者生殖系MC1R变异状态和免疫检查点抑制剂的疗效

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-09 DOI: 10.1111/pcmr.70050

Muyi Yang, Suzanne Egyhazi Brage, Jan Lapins, Vitali Grozman, Fernanda Costa Svedman, Veronica Höiom, Hildur Helgadottir

{"title":"Germline MC1R Variant Status and Efficacy of Immune Checkpoint Inhibitors in Patients With Advanced Melanoma","authors":"Muyi Yang, Suzanne Egyhazi Brage, Jan Lapins, Vitali Grozman, Fernanda Costa Svedman, Veronica Höiom, Hildur Helgadottir","doi":"10.1111/pcmr.70050","DOIUrl":"https://doi.org/10.1111/pcmr.70050","url":null,"abstract":"The melanocortin-1-receptor (MC1R) has a key role in melanocyte pigmentation regulation. Certain MC1R germline genetic variants (R alleles) result in deficient melanin production and are associated with red hair, freckling, UV sensitivity, and melanoma susceptibility. We aimed to address whether inherited polymorphisms in MC1R impact the efficacy of immune checkpoint inhibitors (ICI) in patients with metastatic melanoma. Patients with advanced melanoma undergoing ICI treatment were genotyped for MC1R variants. The patients were grouped by their germline MC1R R variants (≥ 1 or 0) and followed for treatment response, progression-free survival (PFS) and overall survival (OS). Of the 103 patients included, 39 (37.9%) had at least one MC1R R allele (MC1R-R-carriers), whereas 64 patients did not harbor any R allele (MC1R-R-non-carriers). The hazard ratio (HR) for PFS in MC1R-R-carriers was 0.60, (95% CI 0.37–0.98, p = 0.043). The HR for OS was 0.63 (95% CI 0.37–1.08, p = 0.091). While MC1R is closely associated with melanoma susceptibility, its impact on ICI efficacy has not been explored previously. MC1R-R-carriers with metastatic melanoma had improved PFS when treated with ICIs. If validated in larger cohorts, MC1R genotyping may serve as a factor helping to predict response to ICIs in melanoma patients.","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145022240","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

Rapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis Hermansky-Pudlak综合征的快速诊断与分型

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-05 DOI: 10.1111/pcmr.70048

Yingzi Zhang, Teng Liu, Qingsong Yang, Qiaorong Huang, Jiayi Ai, Yefeng Yuan, Wei Li, Aihua Wei

{"title":"Rapid Diagnosis and Subtyping of Hermansky-Pudlak Syndrome With Flow Cytometry Analysis","authors":"Yingzi Zhang, Teng Liu, Qingsong Yang, Qiaorong Huang, Jiayi Ai, Yefeng Yuan, Wei Li, Aihua Wei","doi":"10.1111/pcmr.70048","DOIUrl":"https://doi.org/10.1111/pcmr.70048","url":null,"abstract":"<div>\u0000 \u0000 The diagnostic approaches for Hermansky-Pudlak Syndrome (HPS) include genetic sequencing, immunoblotting, electron microscopy (EM), and flow cytometry with mepacrine staining. However, these methods are often impractical for routine clinical use due to high cost, technical complexity, and limited availability. In this study, we evaluated dense granules (DGs) function in HPS mouse models using flow cytometry with mepacrine and FluoZin-3 staining. We then developed a standardized, practical flow cytometry-based protocol and validated it in patients with HPS and oculocutaneous albinism (OCA), which were confirmed by whole-mount EM. In HPS mouse models (BLOC-1, BLOC-2, BLOC-3, and AP-3 deficient mutants), mepacrine uptake was consistently reduced. FluoZin-3 fluorescence showed subtype-specific zinc dysregulation, with elevated levels in BLOC-1, BLOC-2, and AP-3 mutants but decreased levels in the BLOC-3 mutant. In contrast, the OCA-6 mouse mutant showed no significant changes in either mepacrine or FluoZin-3 uptake. Similar patterns were observed in HPS and non-syndromic OCA patients. Our findings indicate that the protocol can enable the precise diagnosis and preliminary subtype classification of HPS, while also facilitating differential diagnosis between HPS and OCA. This method offers a rapid, clinically accessible alternative to conventional diagnostic techniques and may also be applicable to other storage pool disorders with DG defects.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998937","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

Treatment of Acquired Dermal Macular Hyperpigmentation With Oral Isotretinoin: A Multi-Institutional Retrospective Study of 121 Cases 口服异维甲酸治疗获得性皮肤黄斑色素沉着：121例多机构回顾性研究

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-09-05 DOI: 10.1111/pcmr.70052

Zhongyi Xu, Yuecen Ding, Chengfeng Zhang, Davinder Parsad, Michelle Rodrigues, Muthu Sendhil Kumaran, Nawaf Almutairi, Iltefat Hamzavi, Jharna Amin, Houda Hammami Ghorbel, Leihong Xiang, Thierry Passeron

{"title":"Treatment of Acquired Dermal Macular Hyperpigmentation With Oral Isotretinoin: A Multi-Institutional Retrospective Study of 121 Cases","authors":"Zhongyi Xu, Yuecen Ding, Chengfeng Zhang, Davinder Parsad, Michelle Rodrigues, Muthu Sendhil Kumaran, Nawaf Almutairi, Iltefat Hamzavi, Jharna Amin, Houda Hammami Ghorbel, Leihong Xiang, Thierry Passeron","doi":"10.1111/pcmr.70052","DOIUrl":"https://doi.org/10.1111/pcmr.70052","url":null,"abstract":"<div>\u0000 \u0000 The term acquired dermal macular hyperpigmentation (ADMH) was introduced to unify Riehl's melanosis (RM), lichen planus pigmentosus (LPP), and related entities. These are cosmetically distressing pigmentary disorders that pose therapeutic challenges. To investigate the efficacy and safety of oral isotretinoin in treating ADMH, we conducted a muticenter retrospective study of patients with ADMH treated with oral isotretinoin between 2014 and 2024. Patients from Australia, China, Europe, India, Middle East, North America, and North Africa were included. Patients lost to follow-up before two visits were excluded. The response was graded by a 5-point Investigator's Global Assessment (IGA) scale. A total of 121 patients were included. Most patients (64.5%) were treated with a dose of 20 mg/d for an average of 8 months. Oral isotretinoin improved the severity of pigmentation in all RM and 85 (90.4%) LPP patients, with 17 (63.0%) RM and 31 (33.0%) LPP patients achieving marked improvement. RM patients responded better than LPP patients (p = 0.005). Patients with localized lesions (p = 0.0012), disease duration of less than 5 years (p = 0.046 for RM, p = 0.0272 for LPP), Fitzpatrick skin phototypes III-VI (p = 0.0081), or longer duration of treatment (p = 0.0178) responded better. Oral isotretinoin appears to be a promising treatment modality for ADMH.\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998939","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