Pigment Cell & Melanoma Research最新文献_第2页

Extreme Tumor Mutational Burden Predicts Near-Curative Outcomes With Checkpoint Immunotherapy in Melanoma: Half the Eligible, Half the Cure 极端肿瘤突变负担预测黑色素瘤检查点免疫治疗的近治愈结果：一半符合条件，一半治愈。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-02-03 DOI: 10.1111/pcmr.70077

Ming Zheng, 争鸣

{"title":"Extreme Tumor Mutational Burden Predicts Near-Curative Outcomes With Checkpoint Immunotherapy in Melanoma: Half the Eligible, Half the Cure","authors":"Ming Zheng, 争鸣","doi":"10.1111/pcmr.70077","DOIUrl":"10.1111/pcmr.70077","url":null,"abstract":"<div>\u0000 \u0000 <p>Tumor-mutational burden (TMB) is a mechanistic surrogate of neo-antigen load and thus a plausible biomarker for response to immune checkpoint blockade (ICB). In melanoma, however, the extreme right tail of the mutational spectrum, known as “hypermutation,” remains poorly characterized. This study sought to explore an a priori threshold of hypermutation that would delineate a subgroup with extraordinary benefit from ICB therapy. This study analyzed individual-patient data from independent cohorts comprising 710 ICB-treated melanoma patients profiled by whole-exome sequencing or FDA-approved targeted panels. Hypermutated tumors displayed a striking enrichment for higher objective response and complete response (CR) rates (<i>p</i> < 0.0001). Hypermutation independently predicted prolonged progression-free survival and overall survival. By contrast, the conventional ≥ 10 mut/Mb cut-off captured many treatment-eligible patients but conferred markedly lower CR enrichment and weaker survival discrimination. A super-high TMB threshold of ≥ 25 mut/Mb by MSK-IMPACT identifies a distinct subset of melanoma patients who achieve truly exceptional benefit, with nearly one in two attaining clinical cure following ICB therapy. These data support prospective validation of “hypermutation” as a clinically actionable biomarker, refine patient counseling, and inform trial stratification in the era of personalized cancer immunotherapy.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111624","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

Society for Melanoma Research 22nd International Congress 第22届国际黑色素瘤研究学会大会。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-28 DOI: 10.1111/pcmr.70074

引用次数: 0

TRIM63 Promotes the Malignant Behaviors of Melanoma Cells Through Ubiquitination of P2RY1 TRIM63通过P2RY1泛素化促进黑色素瘤细胞的恶性行为。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-22 DOI: 10.1111/pcmr.70075

Qianqian Zhang, Zixuan Zhu, Hui Yang, Xiaoyan Wang, Yanxia Liu, Laitao Song

{"title":"TRIM63 Promotes the Malignant Behaviors of Melanoma Cells Through Ubiquitination of P2RY1","authors":"Qianqian Zhang, Zixuan Zhu, Hui Yang, Xiaoyan Wang, Yanxia Liu, Laitao Song","doi":"10.1111/pcmr.70075","DOIUrl":"10.1111/pcmr.70075","url":null,"abstract":"<div>\u0000 \u0000 <p>The tripartite motif (TRIM) family of E3 ubiquitin ligases is known to play a crucial role in the initiation, growth, and metastasis of various tumors. However, little is known about the biological features and relevant molecular mechanism of Tripartite motif-containing 63 (TRIM 63) in melanoma. The expression levels of TRIM63 and purinergic receptor P2Y1 (P2RY1) in melanoma were examined by online database. Cell counting kit-8 (CCK-8) and colony formation assay were carried out to explore the effects of TRIM63 on melanoma cells proliferation. Transwell assay was used to explore the influence of TRIM63 on melanoma cells invasion and migration. Bioinformatics, co-immunoprecipitation (co-IP) assay, ubiquitination assay, and protein stability assay were used to detect the regulatory mechanism of TRIM63 on P2RY1. TRIM63 was upregulated in melanoma samples, and a higher expression level of TRIM63 indicated a shorter overall survival of melanoma patients. Knocked down of TRIM63 obviously suppressed the proliferation, invasion, and migration abilities of melanoma cells. Mechanistically, TRIM63 was regarded as a posttranslational mediator of P2RY1, and TRIM63 was co-immunoprecipitated with P2RY1 and degraded its protein level. Notably, silencing P2RY1 alleviated melanoma cells progression by TRIM63 depletion. Collectively, these data suggested that TRIM63 contributed to melanoma cells growth and mobility by ubiquitination of P2RY1 and may be a promising candidate as a potential diagnostic and therapeutic marker for patients with melanoma.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146027907","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

Excimer 308-Nm Light in the Combination Treatment of Vitiligo: A Systematic Review and Network Meta-Analysis 准分子308-Nm光联合治疗白癜风：系统综述和网络荟萃分析。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-21 DOI: 10.1111/pcmr.70065

Zhengyang Liu, Wey Han Ng, Samuel Morriss, Zhao Feng Liu, Lawrence Lin, Firdavis Xireaili, Christopher Chew

{"title":"Excimer 308-Nm Light in the Combination Treatment of Vitiligo: A Systematic Review and Network Meta-Analysis","authors":"Zhengyang Liu, Wey Han Ng, Samuel Morriss, Zhao Feng Liu, Lawrence Lin, Firdavis Xireaili, Christopher Chew","doi":"10.1111/pcmr.70065","DOIUrl":"10.1111/pcmr.70065","url":null,"abstract":"<p>Excimer 308-nm light is often used for vitiligo treatment in combination with adjuvants. We aimed to evaluate the efficacy of these combination therapies. We searched MEDLINE, Embase and the Cochrane Library from inception to November 2024. All randomised trials reporting efficacy outcomes for vitiligo patients treated with excimer 308-nm light were included. Primary outcomes were achieving ≥ 50%, ≥ 75% and 100% skin repigmentation. Pairwise comparisons of treatment repigmentation were summarised as risk ratios (RRs) with 95% confidence intervals (CIs) and a frequentist, random-effects network meta-analysis with a graph-theoretical approach was used to generate summary estimates. Thirty-eight studies involving 1841 participants were included. Excimer 308-nm light with topical calcineurin inhibitors or topical corticosteroids significantly improved repigmentation outcomes compared to excimer monotherapy with ≥ 50% (RR 1.47, 95% CI 1.19–1.81; RR 1.65, 95% CI 1.32–2.06) and ≥ 100% repigmentation (RR 1.60, 95% CI 1.03–2.49; RR 2.31, 95% CI 1.50–3.56) respectively. Excimer in combination with topical antioxidants (RR 43.00, 95% CI 2.68–688.68), intramuscular corticosteroid (RR 1.76, 95% CI 1.13–2.74) and platelet rich plasma (RR 1.76, 95% CI 1.32–2.35) enhanced ≥ 50% repigmentation. These findings highlight the value of combination therapy with excimer light as a useful option in the management of vitiligo.</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70065","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146016689","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

First Report of Oculocutaneous Albinism Type I Among Baka Pygmies From Cameroon 喀麦隆巴卡俾格米人1型皮肤白化病首例报道。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-11 DOI: 10.1111/pcmr.70073

Alain Froment, Paul Verdu, Claudio Plaisant, Eulalie Lasseaux, Robert Aquaron, Benoit Arveiler

引用次数: 0

Chicken Shank Color Determined by Inhibition of Dermal Melanin (ID) is Mediated by a Structural Variation Regulating CDKN2A Expression 抑制皮肤黑色素（ID）决定鸡腿颜色是由调节CDKN2A表达的结构变异介导的。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-07 DOI: 10.1111/pcmr.70072

Jingyi Li, Lei Wang, Sendong Yang, Xin Zhou, Qinli Gou, Jinping Cai, Hongrui Yang, Qiaohua Wang, Shijun Li

{"title":"Chicken Shank Color Determined by Inhibition of Dermal Melanin (ID) is Mediated by a Structural Variation Regulating CDKN2A Expression","authors":"Jingyi Li, Lei Wang, Sendong Yang, Xin Zhou, Qinli Gou, Jinping Cai, Hongrui Yang, Qiaohua Wang, Shijun Li","doi":"10.1111/pcmr.70072","DOIUrl":"10.1111/pcmr.70072","url":null,"abstract":"<div>\u0000 \u0000 <p>Shank color in chickens is a classic quantitative trait governed by four genetic loci. Among these, the <i>Inhibition of dermal melanin</i> (<i>ID</i>) locus, which suppresses dermal melanogenesis in the shank, is the sole sex-linked mutation and its molecular mechanisms remain elusive. To identify the causal mutation, we established a resource population segregating for shank colors. A genome-wide association study utilizing FarmCPU software identified a top-associated SNP on the Z chromosome. Linkage mapping subsequently narrowed the candidate region, within which we discovered a candidate structural variant associated with the yellow shank phenotype. This variant is characterized by a 143 bp deletion coupled with a 2 bp insertion. <i>CDKN2A</i> was the only gene within the same topologically associating domain to exhibit differential expression. Functional validation via CRISPR/Cas9-edited cells demonstrated that this mutation regulates <i>CDKN2A</i> transcription and is responsible for the <i>ID</i> shank color in chickens. We propose that the resulting absence of melanocytes is likely due to apoptosis. This work resolves the molecular basis of the <i>ID</i> locus, thereby completing the genetic puzzle of chicken shank color. This discovery enables the development of molecular markers for auto-sexing of day-old chicks, a tool with significant potential for the poultry industry.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145909774","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 Efficacy of Cryosurgery Versus Alternative Techniques for Intraoral Depigmentation: A Systematic Review and Meta-Analysis 冷冻手术与其他技术治疗口腔内色素沉着的疗效比较：系统回顾和荟萃分析。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-06 DOI: 10.1111/pcmr.70070

Shiva Shirazian, Mehdi Vatanpour, Maryam Tahmasebinasab

{"title":"Comparative Efficacy of Cryosurgery Versus Alternative Techniques for Intraoral Depigmentation: A Systematic Review and Meta-Analysis","authors":"Shiva Shirazian, Mehdi Vatanpour, Maryam Tahmasebinasab","doi":"10.1111/pcmr.70070","DOIUrl":"10.1111/pcmr.70070","url":null,"abstract":"<p>Various factors influence the color of the gingiva, and physiological gingiva pigmentation can affect self-image without causing systemic issues. This study aimed to systematically review all articles that compare the effectiveness of cryosurgery with other techniques, such as laser, abrasion, and blade, in treating physiological gingival pigmentation. This systematic review included all clinical trials that met these criteria: All human studies, including randomized controlled (RCTs) and non-randomized CT. Studies specifically focusing on intraoral depigmentation. Articles with full-text availability. The search was carried out in MEDLINE/PubMed, Scopus, Web of Science (ISI), Embase, and Google Scholar without language limitation up to 2023. Two independent researchers did a quality assessment of the articles by the Cochrane Quality Assessment Tool. Risk of Bias assessment was carried out by ROB2 and ROBINS-I. The Random model was used for meta-analysis (using CAM2 software). From 1853 articles found in the initial search, 6 studies entered the data extraction phase. The six studies compared cryosurgery with laser, blade, and abrasion methods for gingival depigmentation. Statistical analysis showed that laser and scalpel treatments had better therapeutic outcomes than cryotherapy (<i>p</i> = 0.004). The subject of investigation exhibits numerous variations, necessitating further research to attain results with a high level of evidence. However, preliminary findings indicate that the scalpel depigmentation, abrasion, and laser treatment demonstrate greater efficacy than cryosurgery.</p><p><b>Trial Registration:</b> PROSPERO number: CRD42023434081</p>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/pcmr.70070","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145909763","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

Melanomas and Mesenchymal Tumors Arising in Giant Congenital Melanocytic Nevi: Clinico-Pathological and Molecular Characterization of a Case Series 巨大的先天性黑素细胞痣引起的黑素瘤和间充质肿瘤：临床病理和分子特征的病例系列。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2026-01-05 DOI: 10.1111/pcmr.70071

Sabrina Rossi, Sabina Barresi, Isabella Giovannoni, Silvia Genovese, Valentino Costabile, Alessandra Stracuzzi, Silvia Vallese, Chantal Tancredi, Andrea Diociaiuti, Giuseppe M. Milano, Andrea Ferrari, Patrizia Bertolini, Stefano Chiaravalli, Emanuele Agolini, Gemma D'Elia, Giorgia Catino, Licia Martucci, Marta Cajozzo, Fabio Dell'Otto, Gianni Bisogno, Alessandro Crocoli, Evelina Miele, Giovanna Zambruno, Maria Debora De Pasquale, Mario Zama, Antonio Novelli, May El Hachem, Viola Alesi, Rita Alaggio

{"title":"Melanomas and Mesenchymal Tumors Arising in Giant Congenital Melanocytic Nevi: Clinico-Pathological and Molecular Characterization of a Case Series","authors":"Sabrina Rossi, Sabina Barresi, Isabella Giovannoni, Silvia Genovese, Valentino Costabile, Alessandra Stracuzzi, Silvia Vallese, Chantal Tancredi, Andrea Diociaiuti, Giuseppe M. Milano, Andrea Ferrari, Patrizia Bertolini, Stefano Chiaravalli, Emanuele Agolini, Gemma D'Elia, Giorgia Catino, Licia Martucci, Marta Cajozzo, Fabio Dell'Otto, Gianni Bisogno, Alessandro Crocoli, Evelina Miele, Giovanna Zambruno, Maria Debora De Pasquale, Mario Zama, Antonio Novelli, May El Hachem, Viola Alesi, Rita Alaggio","doi":"10.1111/pcmr.70071","DOIUrl":"10.1111/pcmr.70071","url":null,"abstract":"<div>\u0000 \u0000 <p>Giant congenital melanocytic nevi (GCMN) are benign mosaic disorders that may give rise to various tumor types through incompletely understood mechanisms. We characterized a series of two melanomas and four mesenchymal tumors (two embryonal rhabdomyosarcomas, one small round cell sarcoma, one low-grade mesenchymal tumor) arising in GCMN. Median onset age was 3.5 years and 3 months for melanoma and mesenchymal tumor patients, respectively. Both melanoma patients succumbed within 27 months from diagnosis, whereas no patients progressed in the mesenchymal group (median follow-up 46 months). NRAS Q61, BRAF V600E mutation, and a novel in frame <i>BIN1::BRAF</i> fusion were detected in four, one, and one cases, respectively, with a higher variant allele frequency in the tumors compared with the matched GCMN. Copy number alterations and/or copy-neutral loss of heterozygosity were exclusively found in the tumors in all cases. An inactivating <i>ASXL1</i> variant and an in-frame <i>KDM5B::LPGAT1</i> fusion were identified in one melanoma; paternal disomy of 11p15.5 in both embryonal rhabdomyosarcomas. Mesenchymal tumors and melanomas showed distinct transcriptional profiles enriched in muscle and synapse organization and epidermal differentiation genes, respectively.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145905326","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

Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population 白化病的遗传特征：俄罗斯人群的综合分析。

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-12-22 DOI: 10.1111/pcmr.70069

Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, Svetlana Kuznetsova, Tatyana Vasilyeva, Anna Stepanova, Olga Shchagina, Konstantin Severinov, Nikolay Chekanov, Evgeniya Osipova, Alexandra Filatova, Mikhail Skoblov, Sergey Kutsev, Rena Zinchenko

{"title":"Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population","authors":"Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, Svetlana Kuznetsova, Tatyana Vasilyeva, Anna Stepanova, Olga Shchagina, Konstantin Severinov, Nikolay Chekanov, Evgeniya Osipova, Alexandra Filatova, Mikhail Skoblov, Sergey Kutsev, Rena Zinchenko","doi":"10.1111/pcmr.70069","DOIUrl":"10.1111/pcmr.70069","url":null,"abstract":"<div>\u0000 \u0000 <p>We present a comprehensive molecular and epidemiological analysis of albinism in a Russian cohort, comprising 177 probands with isolated (OCA1, OCA2, OCA3, OCA4, and OA) and syndromic (HPS-associated) forms of the disease. The comparative analysis of population frequencies between the National Genetic Initiative “100,000 + Me” (NGI) project and GnomAD (v3.1.2) revealed variants in the <i>TYR</i> gene (NM_000372.5):c.650G>A and c.1037-7 T>A, which are specifically prevalent in the Russian population. The functional analysis was provided for variants in the <i>TYR</i> gene, which can probably affect splicing. Based on the population frequency in the NGI project, we calculated the minimal estimated disease frequencies for isolated forms of albinism. Using molecular genetic results, functional analysis, and ACMG classification, the diagnosis was confirmed in 71.8% (127/177) of the cases in the Russian cohort.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"39 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809185","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

Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants 日本白化病最新分析：290个具有新病理变异的家庭

IF 2.6 3区医学

Pigment Cell & Melanoma Research Pub Date : 2025-11-25 DOI: 10.1111/pcmr.70066

Ken Okamura, Toru Saito, Naoki Oiso, Akiko Sekiguchi, Sei-Ichiro Motegi, Yoshiaki Hara, Mayumi Komine, Kyoko Kudo, Atsushi Noguchi, Tomoko Oshimo, Mami Shibuya, Kyohei Miyano, Takayuki Hoshina, Mari Itokawa, Yuri Masui, Kaoru Otaki, Yutaka Hozumi, Tamio Suzuki

{"title":"Updated Analysis of Albinism in Japan: 290 Families With Novel Pathological Variants","authors":"Ken Okamura, Toru Saito, Naoki Oiso, Akiko Sekiguchi, Sei-Ichiro Motegi, Yoshiaki Hara, Mayumi Komine, Kyoko Kudo, Atsushi Noguchi, Tomoko Oshimo, Mami Shibuya, Kyohei Miyano, Takayuki Hoshina, Mari Itokawa, Yuri Masui, Kaoru Otaki, Yutaka Hozumi, Tamio Suzuki","doi":"10.1111/pcmr.70066","DOIUrl":"10.1111/pcmr.70066","url":null,"abstract":"<div>\u0000 \u0000 <p>We present an updated analysis of albinism in Japan, encompassing both oculocutaneous albinism (OCA) and ocular albinism (OA), based on 290 families, which expands our previous study by 100 additional families. The overall frequency distribution of major subtypes remained consistent with our previous findings: OCA4 remains the most prevalent subtype (67 patients, 23.1%), followed by OCA1 (57 patients, 19.7%), Hermansky–Pudlak syndrome (HPS) 1 (35 patients, 12.1%), and OCA2 (30 patients, 10.3%). Notably, our expanded analysis identified patients with rare subtypes, including OCA3, OCA6, HPS2, HPS3, HPS5, and HPS6, as well as OA, further demonstrating the genetic diversity of albinism in the Japanese population. Through comprehensive genetic screening of the additional 100 families, we identified 17 patients harboring previously unreported pathological variants across multiple albinism subtypes. These findings expand the variant spectrum of albinism in Japan, provide valuable insights for genetic counseling, and underscore the critical importance of comprehensive clinical evaluation and long-term multidisciplinary follow-up for patients with albinism, particularly those with HPS subtypes.</p>\u0000 </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 6","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145601602","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