文章：

皮肤黑色素瘤的临床、组织病理学、皮肤镜特征及BRAF、NRAS与细胞周期基因突变状态分析

Clinical, Histopathological, Dermoscopic Features, andBRAF,NRAS, and Cell Cycle Genes’ Mutation Status in Cutaneous Melanoma

原文发布日期：19 August 2025

DOI: 10.3390/cancers17162688

类型: Article

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英文摘要：

Background/Objectives: The clinical, histopathological, and dermoscopic features may be associated with melanoma mutational status. The aims of the study were to assess the clinical, histopathological, and dermoscopic features of melanoma to identify their correlation withBRAF,NRAS, and cell cycle genes’ mutational status in melanoma.Methods: The clinical, histopathological information, dermoscopic images, and genomic DNA of 55 histopathologically diagnosed primary cutaneous melanomas were retrospectively analyzed. Next-generation sequencing (NGS) assays were conducted on the Ion GeneStudio S5 platform (Thermo Fisher Scientific, Waltham, MA, USA), using the Ion AmpliSeq™ Italian Melanoma Intergroup Somatic Panel.Results: Overall, 55 melanomas, including 30 superficial spreading, 24 nodular, and 1 naevoid, were analyzed.BRAFmutation was more frequently observed in ulcerated melanoma (16/23; 69.6%), with mitotic rate ≥ 5 n/mm2(8/11; 72.7%), whileNRASmutation was more common in amelanotic/hypomelanotic (8/17; 70.0%) and nodular melanoma (10/24; 41.7%). Dermoscopically, shiny white structures (OR = 3.50; 95% confidence interval: 1.13–10.84) were associated withBRAF-mutated melanomas, whereas a homogeneous disorganized pattern was associated withNRAS-mutated melanomas (OR = 6.96; 1.49–32.53). The risk of diagnosing cell cycle gene-mutated melanomas was significantly increased in presence of vascular patterns (OR = 4.50; 1.33–15.20), linear irregular (OR = 3.75; 1.18–11.92), polymorphous vessels (OR = 4.05; 1.27–12.97), and milky red globules/areas (OR = 3.14; 1.00–9.89). The blue-white veil was significantly associated with P53 mutation (OR = 35.84; 2.01–640.2).Conclusions: Conversely toWild Type,BRAF,NRAS, and cell cycle gene-mutated melanomas were significantly associated with clinical and dermoscopic features underlying a more aggressive melanoma phenotype. The vascular pattern, linear irregular, polymorphous vessels, and milky-red globules/areas may be considered predictors of cell cycle mutated melanomas.

摘要翻译： 

背景/目的：黑色素瘤的临床、组织病理学和皮肤镜特征可能与基因突变状态相关。本研究旨在评估黑色素瘤的临床、组织病理学及皮肤镜特征，以明确其与黑色素瘤中BRAF、NRAS及细胞周期基因突变状态的相关性。方法：回顾性分析55例经组织病理学确诊的原发性皮肤黑色素瘤的临床与组织病理学信息、皮肤镜图像及基因组DNA。采用Ion AmpliSeq™意大利黑色素瘤协作组体细胞突变检测panel，在Ion GeneStudio S5平台（美国赛默飞世尔科技公司）进行二代测序分析。结果：共分析55例黑色素瘤，包括30例浅表扩散型、24例结节型和1例痣样型。BRAF突变更常见于溃疡性黑色素瘤（16/23；69.6%）及有丝分裂率≥5个/mm²的病例（8/11；72.7%），而NRAS突变在无色素/低色素性（8/17；70.0%）及结节型黑色素瘤（10/24；41.7%）中更常见。皮肤镜特征方面，闪亮白色结构（OR=3.50；95%置信区间：1.13-10.84）与BRAF突变黑色素瘤相关，而均质无序模式与NRAS突变黑色素瘤相关（OR=6.96；1.49-32.53）。当存在血管模式（OR=4.50；1.33-15.20）、线状不规则血管（OR=3.75；1.18-11.92）、多形性血管（OR=4.05；1.27-12.97）及乳红色球状/区域（OR=3.14；1.00-9.89）时，细胞周期基因突变黑色素瘤的诊断风险显著增加。蓝白幕与P53突变显著相关（OR=35.84；2.01-640.2）。结论：与野生型相比，BRAF、NRAS及细胞周期基因突变的黑色素瘤与更具侵袭性表型的临床及皮肤镜特征显著相关。血管模式、线状不规则血管、多形性血管及乳红色球状/区域可作为细胞周期基因突变黑色素瘤的预测指标。

原文链接：

Clinical, Histopathological, Dermoscopic Features, andBRAF,NRAS, and Cell Cycle Genes’ Mutation Status in Cutaneous Melanoma