Pigment Cell & Melanoma Research最新文献

A melanoma is a malignant neoplasm that originates from melanocytes. Melanocytes are found in various body sites—they are most commonly found in the skin (including acral sites and nail units), ocular structures, and mucosal membranes. This narrative review aims to comprehensively summarize the current information available regarding several types of melanomas and to analyze the existing evidence. Despite the same origin—melanocytes—melanomas appear to be a heterogeneous neoplasm. A thorough analysis of several types of melanomas reveals differing genetics, risk factors, epidemiology, and prognosis. The most common locations for melanomas are primarily the skin, followed by ocular structures and acral sites. Mucosal melanomas occur more frequently in older individuals than cutaneous melanomas; cutaneous melanomas occur more frequently in males. Mucosal and nail unit melanomas predominantly affect females, whereas ocular melanomas occur with similar frequencies in both sexes or are slightly more common in males. The highest incidence of amelanotic cases is observed in patients with mucosal, uveal, and conjunctival melanomas. Mucosal melanomas, including conjunctival, present as multifocal lesions more often than in other affected body areas. Additionally, the poorest survival rate is observed for mucosal melanomas.

Metastatic uveal melanoma (mUM) is a rare disease associated with poor prognosis and limited therapeutic options. Recent studies showed that detecting ctDNA is feasible and can aid treatment decisions for patients with mUM. We systematically searched PubMed, EMBASE, and Cochrane databases for eligible studies published up to May 2025 that included patients with mUM and reported data on the association between ctDNA and survival outcomes (OS and PFS). Statistical analyses were performed using Review Manager 5.4 software. Of the initial 450 records, seven studies met eligibility, including 518 patients with mUM. At baseline, ctDNA positivity was associated with significantly worse PFS (HR 2.34; 95% CI 1.56–3.51; p < 0.01; I² = 0%) and OS (HR 3.32; 95% CI 2.09–5.29; p < 0.01; I² = 48%). In patients treated with tebentafusp, ctDNA clearance was associated with superior OS (HR 0.19; 95% CI 0.07–0.49; p < 0.01; I² = 46%) and any decrease in ctDNA was associated with better OS (HR 0.42; 95% CI 0.22–0.80; p < 0.01; I² = 0%). This meta-analysis underscores ctDNA as a potential predictor of worse survival in patients with mUM, highlighting its potential to refine risk stratification and guide treatment strategies.

Trial Registration: International Prospective Register of Systematic Reviews (PROSPERO): CRD42025638076

As effective melanoma treatments have become available, utilizing isolated limb perfusion (ILP) to treat unresectable melanoma limited to the limb has decreased. However, some patients still receive long-term benefits from ILP. We aimed to identify features of the pretreatment tumor microenvironment (TME) to identify patients who may benefit from ILP. Pretreatment metastatic melanoma samples from 22 patients treated at Helsinki University Hospital with ILP from 2008 to 2018 were analyzed with multiplex immunohistochemistry (mIHC) and digital image analysis. Antibody panels evaluated the proportions of immune cells in the intratumoral and extratumoral compartments. We examined whether treatment response and median progression-free survival (PFS) after ILP correlated to findings in the TME. A statistically significant positive correlation was found between PFS and lower immune cell infiltrations in the intratumoral compartment (CD3+, CD4+, and CD11c+ cells), and increased numbers of immune cells in the extratumoral compartment were associated with longer PFS (CD3+, CD4+, CD8+, all expressing PD-1). Furthermore, the distribution of some immune cell subsets correlated with complete treatment response (PD-1/PD-L1-positive CD4+ and PD-1-positive CD8+ cells). Our results suggest that patients may have a better ILP outcome if the metastases exhibit a lower distribution of specific immune cell subtypes intratumorally and a higher extratumoral distribution of some immune cell subtypes.

The retinal pigment epithelium (RPE) is a specialised monolayer of pigmented epithelial cells in the outer retina. The extent to which RPE pigmentation is related to that of other tissues remains unclear. We utilised RPE thickness measured using optical coherence tomography (OCT) imaging as an indicator of RPE melanin content. UK Biobank data was used to assess the relationships between RPE thickness and fundus pigmentation, hair colour, skin colour and ability to tan. We performed a genome-wide association study (GWAS) to identify genetic loci associated with RPE thickness. We explored the genetic correlation between RPE thickness and pigmentation-related traits. We found that RPE thickness was not phenotypically or globally genetically correlated with hair colour, skin colour or ability to tan. Whilst RPE thickness was phenotypically correlated with fundus pigmentation, there was not significant global genetic correlation. Despite this, variants in key pigmentation loci including TYR and OCA2-HERC2 were significant in our GWAS of RPE thickness. We identified four genetic regions in which RPE thickness is locally genetically correlated with other pigmentation-related traits, all of which contain protein-coding genes that are central to melanogenesis and melanosome transport. Our study highlights shared and divergent features between RPE thickness and other pigmented traits.

Vitiligo is a common depigmentation disorder characterized by patchy white macules. It has been reported that vitiligo lesions, particularly in exposed areas, such as the face and hands, cause severe psychological distress. Although the classification and outcome of facial vitiligo have been proposed, clinical analyses featuring hand vitiligo are very limited, irrespective of its severe psychological impact. In this study, we investigated hand lesions in nonsegmental vitiligo patients and found that the distribution of hand vitiligo was symmetric, whereas the dominant hand was more frequently affected. Moreover, our clustering analysis newly classified hand vitiligo lesions into four distinct subtypes (n = 140): focal/scattered (46.4%), distal digit (31.4%), universal (12.9%), and proximal digit (9.2%) and their clinical characteristics. The focal/scattered type is the most common subtype and exhibits a distinctive prevalence in pediatric cases. The distal digit type was suggested to be associated with smoking or the Koebner phenomenon. The universal type is a distinct subtype, with onset in older age and a poor response to treatment. The proximal digit type is the rarest subtype, with onset at a young age. In conclusion, these findings deepen our understanding of the heterogeneity of hand vitiligo and support the development of personalized treatment strategies.