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Quality Analysis of Measurement Properties of Patient-Reported Outcome Measures for Vitiligo and of the Studies Assessing Them: A Systematic Review
IF 3.9 3区 医学 Q2 CELL BIOLOGY Pub Date : 2025-04-21 DOI: 10.1111/pcmr.70014
Jolien Duponselle, Sandrine Herbelet, Liesbeth Delbaere, Zoë De Schryver, Caroline B. Terwee, Albert Wolkerstorfer, Julien Seneschal, Phyllis Spuls, Amit Garg, Iltefat Hamzavi, Reinhart Speeckaert, Nanja van Geel

Evaluating measurement properties (MPs) of Patient Reported Outcome Measures (PROMs) in vitiligo is essential for evidence-based recommendations and identifying research gaps. This study assesses the quality of PROMs used in vitiligo. A systematic search of PubMed, Embase, and the Cochrane Library (up to 20 February 2024) included studies on PROM analysis or development, excluding those validating other tools. Quality assessments followed the COSMIN guidelines. PROMs with the highest number MPs rated sufficient (supported by moderate/high Quality of Evidence [QoE]) were reported per construct category, and information related to content validity specifically was provided. Forty articles on 24 PROMs (=161 MP studies) were analyzed. In the QoL group, the VIT, VLQI, VIP-FS, and ViPPO had the highest number of MPs rated sufficient (n = 3). For severity-related constructs, the Self-Assessment Vitiligo Extent Score (SA-VES) had the most MPs rated sufficient (n = 3). For treatment-related PROMs, the BMQ had the highest number MPs rated sufficient (n = 2). Content validity was limitedly assessed in 12 different PROMs. Comprehensive MP assessment and further validation of vitiligo PROMs are necessary to make definitive conclusions. These systematic reviews are registered at PROSPERO (CRD42020216338). Only English publications were included, which may limit the scope. Additionally, systematic searches conducted by different reviewers in consecutive updates may introduce subjectivity.

{"title":"Quality Analysis of Measurement Properties of Patient-Reported Outcome Measures for Vitiligo and of the Studies Assessing Them: A Systematic Review","authors":"Jolien Duponselle,&nbsp;Sandrine Herbelet,&nbsp;Liesbeth Delbaere,&nbsp;Zoë De Schryver,&nbsp;Caroline B. Terwee,&nbsp;Albert Wolkerstorfer,&nbsp;Julien Seneschal,&nbsp;Phyllis Spuls,&nbsp;Amit Garg,&nbsp;Iltefat Hamzavi,&nbsp;Reinhart Speeckaert,&nbsp;Nanja van Geel","doi":"10.1111/pcmr.70014","DOIUrl":"https://doi.org/10.1111/pcmr.70014","url":null,"abstract":"<p>Evaluating measurement properties (MPs) of Patient Reported Outcome Measures (PROMs) in vitiligo is essential for evidence-based recommendations and identifying research gaps. This study assesses the quality of PROMs used in vitiligo. A systematic search of PubMed, Embase, and the Cochrane Library (up to 20 February 2024) included studies on PROM analysis or development, excluding those validating other tools. Quality assessments followed the COSMIN guidelines. PROMs with the highest number MPs rated sufficient (supported by moderate/high Quality of Evidence [QoE]) were reported per construct category, and information related to content validity specifically was provided. Forty articles on 24 PROMs (=161 MP studies) were analyzed. In the QoL group, the VIT, VLQI, VIP-FS, and ViPPO had the highest number of MPs rated sufficient (<i>n</i> = 3). For severity-related constructs, the Self-Assessment Vitiligo Extent Score (SA-VES) had the most MPs rated sufficient (<i>n</i> = 3). For treatment-related PROMs, the BMQ had the highest number MPs rated sufficient (<i>n</i> = 2). Content validity was limitedly assessed in 12 different PROMs. Comprehensive MP assessment and further validation of vitiligo PROMs are necessary to make definitive conclusions. These systematic reviews are registered at PROSPERO (CRD42020216338). Only English publications were included, which may limit the scope. Additionally, systematic searches conducted by different reviewers in consecutive updates may introduce subjectivity.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143857103","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
New Dermoscopy Pattern in Nevus-Associated Melanomas
IF 3.9 3区 医学 Q2 CELL BIOLOGY Pub Date : 2025-04-19 DOI: 10.1111/pcmr.70015
Nelson Lobos-Guede, Dan Hartmann, Valentina Darlic, Cristina Carrera, Llucia Alos, Susana Puig

Melanomas can appear de novo or in association with a pre-existing nevus. The association of melanomas with pre-existing nevi and its role as a melanoma precursor is a controversial issue. Dermoscopy can increase melanoma's diagnostic accuracy and help us suspect nevus-associated melanomas (NAM). Differentiating NAMs clinically and dermoscopically can be challenging. There are few published studies so far describing dermoscopic features of NAM that have differentiated from de novo melanomas, such as multi-component pattern, multifocal pigmentation, atypical pigment network, regression structures, negative pigment network, irregular globules, and streaks. Here, we report four acquired compound NAMs showing a starburst pattern (SP) within the lesion. No publications have reported NAMs with melanoma components in the form of SP arising within the center of the lesion. Therefore, when faced with a compound or intradermal nevus with incipient central reticulated pigmentation, especially if there is no history of trauma or previous surgery, we must pay alert to the possibility of an early development of melanoma.

{"title":"New Dermoscopy Pattern in Nevus-Associated Melanomas","authors":"Nelson Lobos-Guede,&nbsp;Dan Hartmann,&nbsp;Valentina Darlic,&nbsp;Cristina Carrera,&nbsp;Llucia Alos,&nbsp;Susana Puig","doi":"10.1111/pcmr.70015","DOIUrl":"https://doi.org/10.1111/pcmr.70015","url":null,"abstract":"<div>\u0000 \u0000 <p>Melanomas can appear <i>de novo</i> or in association with a pre-existing nevus. The association of melanomas with pre-existing nevi and its role as a melanoma precursor is a controversial issue. Dermoscopy can increase melanoma's diagnostic accuracy and help us suspect nevus-associated melanomas (NAM). Differentiating NAMs clinically and dermoscopically can be challenging. There are few published studies so far describing dermoscopic features of NAM that have differentiated from <i>de novo</i> melanomas, such as multi-component pattern, multifocal pigmentation, atypical pigment network, regression structures, negative pigment network, irregular globules, and streaks. Here, we report four acquired compound NAMs showing a starburst pattern (SP) within the lesion. No publications have reported NAMs with melanoma components in the form of SP arising within the center of the lesion. Therefore, when faced with a compound or intradermal nevus with incipient central reticulated pigmentation, especially if there is no history of trauma or previous surgery, we must pay alert to the possibility of an early development of melanoma.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143849105","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
Neurological Mechanisms Exploration and Therapeutic Targets in Segmental Vitiligo Accompanied by White Hair
IF 3.9 3区 医学 Q2 CELL BIOLOGY Pub Date : 2025-04-19 DOI: 10.1111/pcmr.70020
Shiqi Fu, Bo Xie, Xiuzu Song

Vitiligo is the most common skin depigmentation disease, affecting 0.1%–2% of people in the world. 3.5%–20.5% of segmental patients account for the total number of vitiligo patients. It has been clinically observed that segmental vitiligo patients are more likely to generate white hair, which may be related to neuroendocrine factors. The color of human skin and hair is affected by the number and functional status of melanocytes. Vitiligo affects patients' physical and mental health due to the shame it causes from the white patches and hair. This article reviews the underlying mechanisms of segmental vitiligo with white hair based on skin and hair follicle melanocytes. The article attempts to propose possible targets for the treatment of this disease.

{"title":"Neurological Mechanisms Exploration and Therapeutic Targets in Segmental Vitiligo Accompanied by White Hair","authors":"Shiqi Fu,&nbsp;Bo Xie,&nbsp;Xiuzu Song","doi":"10.1111/pcmr.70020","DOIUrl":"https://doi.org/10.1111/pcmr.70020","url":null,"abstract":"<p>Vitiligo is the most common skin depigmentation disease, affecting 0.1%–2% of people in the world. 3.5%–20.5% of segmental patients account for the total number of vitiligo patients. It has been clinically observed that segmental vitiligo patients are more likely to generate white hair, which may be related to neuroendocrine factors. The color of human skin and hair is affected by the number and functional status of melanocytes. Vitiligo affects patients' physical and mental health due to the shame it causes from the white patches and hair. This article reviews the underlying mechanisms of segmental vitiligo with white hair based on skin and hair follicle melanocytes. The article attempts to propose possible targets for the treatment of this disease.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 3","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143849276","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
PURPL Represses Radiation-Induced Apoptosis to Promote Radioresistance in Cutaneous Melanoma by Direct Interfering With BID Cleavage PURPL 通过直接干扰 BID 分裂,抑制辐射诱导的细胞凋亡,从而增强皮肤黑色素瘤的抗辐射能力
IF 3.9 3区 医学 Q2 CELL BIOLOGY 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

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.

在治疗皮肤黑色素瘤的过程中,放射抗性的增加对放疗的疗效提出了挑战。转录组测序结果表明,PURPL是黑色素瘤细胞对电离辐射(IR)治疗反应最高调的长非编码RNA之一,这表明它在放射抗性中的作用。为了探索这一假设,研究人员进行了功能缺失实验,以评估 PURPL 对黑色素瘤细胞活力、集落形成和迁移的影响。利用 RNA pulldown 进行的机理研究发现,BID 是 PURPL 的相互作用蛋白伙伴。通过功能缺失和功能增益实验,进一步分析了在红外诱导的DNA损伤和细胞凋亡背景下,PURPL、BID和Caspase-8之间的关系。研究结果表明,沉默PURPL能显著抑制黑色素瘤细胞的活力、集落形成、迁移和侵袭性,表明其在促进放射抗性方面的潜在作用。此外,PURPL还能抑制红外诱导的DNA损伤和细胞凋亡,支持其在黑色素瘤放射抗性中的作用。从机理上讲,PURPL抑制了BID与Caspase-8之间的相互作用,从而调节了线粒体凋亡途径并促进了放射抗性。总之,本研究提供的证据支持了PURPL在黑色素瘤中的放射抗性作用。体内实验进一步证实了体外实验的发现,凸显了针对抗放射黑色素瘤的 PURPL 的潜在临床意义。通过干扰BID与Caspase-8之间的关联,PURPL可能成为治疗黑色素瘤期间临床放疗的新型治疗靶点。
{"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 老年人口腔黑色素瘤:流行病学、分子结构和治疗策略
IF 3.9 3区 医学 Q2 CELL BIOLOGY 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

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.

{"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 Q2 CELL BIOLOGY 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

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 t-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, p = 0.0007), with a similar Breslow depth (White 1.29 mm vs. non-White 0.94 mm, p = 0.26). On average, single/widowed versus married patients had greater Breslow depth (1.53 mm vs. 1.00 mm, p = 0.0041), as did patients > 65 versus ≤ 65 years (1.26 mm vs. 0.93 mm, p = 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.

{"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 Q2 CELL BIOLOGY Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70010
Shatadru Ghosh Roy, Jindřich Brejcha, Peter Mojzeš, Moty Abdu, Uri Abdu

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 lutino (NSL), which entirely inhibits blue structural coloration, and the sex-linked recessive cinnamon, which reduces the intensity of blue structural coloration. Our genotypic analysis revealed that tyrosinase (TYR) variants are responsible for the NSL phenotype in Fischer's lovebird and green-cheeked parakeet, while tyrosinase related protein 1 (TYRP1) variants are associated with the cinnamon 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.

{"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 Q2 CELL BIOLOGY Pub Date : 2025-04-08 DOI: 10.1111/pcmr.70013
Yingzi Zhang, Teng Liu, Qingsong Yang, Xuyun Hu, Wei Li, Aihua Wei

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 SLC45A2, 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>C (p.Tyr70His) variant in SLC45A2, 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.

{"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 Q2 CELL BIOLOGY 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

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 MITF. 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, mitfa, 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 mitfa 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.

外温脊椎动物表现出多种色素细胞类型--黑素细胞--这为揭示其命运规范机制及其如何进化提供了宝贵的机会。与哺乳动物的黑色素细胞一样,远足类和其他外温动物的黑色素细胞也依赖于由 MITF 同源物编码的碱性螺旋-环-螺旋亮氨酸拉链转录因子。一种不同的色素体--虹彩虹膜体依赖于密切相关的转录因子 Tfec。其他色素体系的规范要求在很大程度上仍不确定。在这里,我们发现了斑马鱼 Mitf 基因的一个新等位基因 mitfa,它不仅导致黑色素虹膜的完全缺失,而且还导致黄橙色虹膜的完全缺失。我们发现这一新等位基因的DNA结合域存在一个错义替换,与之前分离出的小鼠等位基因相同,它在色素前体存活和黄体分化方面的缺陷超出了mitfa功能缺失的缺陷。其他遗传分析表明,Mitfa和Tfec之间的相互作用可能是观察到的表型的基础。我们的研究结果表明,Mitfa和Tfec在促进染色体发育,尤其是在黄体系发育方面发挥着协同作用,并为MITF功能在脊椎动物中的进化提供了新的见解。
{"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 Q2 CELL BIOLOGY Pub Date : 2025-03-16 DOI: 10.1111/pcmr.70008
Ravi Kumar Rajan

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.

{"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
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Pigment Cell & Melanoma Research
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