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恶性黑色素瘤的分子和遗传标志物:对预后和治疗的影响

Molecular and Genetic Markers for Malignant Melanoma: Implications for Prognosis and Therapy.

作者信息

Fleshner Lauren, Sayegh Alyssa, Atak Mehmet Fatih, Hirani Rahim, Farabi Banu, Safai Bijan, Marmon Shoshana

机构信息

School of Medicine, New York Medical College, Valhalla, NY 10595, USA.

Dermatology Department, NYC Health + Hospital/Metropolitan, New York, NY 10029, USA.

出版信息

Dermatopathology (Basel). 2025 Sep 12;12(3):31. doi: 10.3390/dermatopathology12030031.

DOI:10.3390/dermatopathology12030031
PMID:40981345
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12452718/
Abstract

Despite therapeutic advancements, malignant melanoma remains a leading cause of skin cancer-related mortality, with incidence continuing to rise globally. Traditional prognostic tools offer important clinical guidance but fail to capture the biological heterogeneity of melanoma or reliably predict responses to emerging therapies. In this review, we summarize recent advances in prognostic and predictive molecular biomarkers reported over the past five years. We discuss immunohistochemical and tissue-based markers, circulating biomarkers, microRNAs, and gene expression profiles that enhance risk stratification and inform surveillance strategies. We also review immune-related markers that may predict response to immune-checkpoint inhibitor therapy. Lastly, we highlight investigational biomarkers-including gene signatures, epigenomic alterations, and microbiome influences-that are shaping the future landscape. Together, these advances reflect a shift toward precision oncology in melanoma, with the integration of biomarker-driven strategies offering the potential to personalize treatment and improve patient outcomes.

摘要

尽管治疗方法不断进步,但恶性黑色素瘤仍然是皮肤癌相关死亡的主要原因,其发病率在全球范围内持续上升。传统的预后工具提供了重要的临床指导,但无法捕捉黑色素瘤的生物学异质性,也无法可靠地预测对新兴疗法的反应。在本综述中,我们总结了过去五年中报道的预后和预测分子生物标志物的最新进展。我们讨论了免疫组织化学和基于组织的标志物、循环生物标志物、微小RNA和基因表达谱,这些标志物可增强风险分层并为监测策略提供信息。我们还回顾了可能预测免疫检查点抑制剂治疗反应的免疫相关标志物。最后,我们重点介绍了正在研究的生物标志物,包括基因特征、表观基因组改变和微生物组影响,这些正在塑造未来的格局。总之,这些进展反映了黑色素瘤治疗向精准肿瘤学的转变,生物标志物驱动策略的整合有望实现个性化治疗并改善患者预后。

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本文引用的文献

1
Circulating tumor DNA predicts tumor progression and poor survival in patients with stage III melanoma.循环肿瘤DNA可预测III期黑色素瘤患者的肿瘤进展和不良生存情况。
Melanoma Res. 2025 Aug 1;35(4):259-267. doi: 10.1097/CMR.0000000000001041. Epub 2025 May 19.
2
Clinical Applications of the Molecular Landscape of Melanoma: Integration of Research into Diagnostic and Therapeutic Strategies.黑色素瘤分子图谱的临床应用:将研究整合到诊断和治疗策略中。
Cancers (Basel). 2025 Apr 24;17(9):1422. doi: 10.3390/cancers17091422.
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A qualitative prognostic biomarker for melanoma based on the relative methylation orderings of CpG loci.一种基于CpG位点相对甲基化排序的黑色素瘤定性预后生物标志物。
Epigenetics. 2025 Dec;20(1):2487316. doi: 10.1080/15592294.2025.2487316. Epub 2025 Apr 3.
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Melanoma cell line-derived exosomal miR-424-5p: a key promoter of angiogenesis through LATS2 interaction.黑色素瘤细胞系来源的外泌体miR-424-5p:通过与LATS2相互作用成为血管生成的关键促进因子。
Oncol Res. 2025 Jan 16;33(2):357-367. doi: 10.32604/or.2024.050878. eCollection 2025.
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Prognostic Significance of miRNA Subtypes in Melanoma: A Survival Analysis and Correlation with Treatment Response Across Patient Stages.miRNA亚型在黑色素瘤中的预后意义:一项生存分析及与各患者阶段治疗反应的相关性
Biomedicines. 2024 Dec 11;12(12):2809. doi: 10.3390/biomedicines12122809.
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Melanoma's New Frontier: Exploring the Latest Advances in Blood-Based Biomarkers for Melanoma.黑色素瘤的新前沿:探索基于血液的黑色素瘤生物标志物的最新进展
Cancers (Basel). 2024 Dec 18;16(24):4219. doi: 10.3390/cancers16244219.
7
The immune checkpoint LAG-3 is expressed by melanoma cells and correlates with clinical progression of the melanoma.免疫检查点LAG-3由黑色素瘤细胞表达,并与黑色素瘤的临床进展相关。
Oncoimmunology. 2025 Dec;14(1):2430066. doi: 10.1080/2162402X.2024.2430066. Epub 2024 Dec 24.
8
Prognostic Biomarkers in Evolving Melanoma Immunotherapy.进展期黑色素瘤免疫治疗中的预后生物标志物
Am J Clin Dermatol. 2025 Mar;26(2):213-223. doi: 10.1007/s40257-024-00910-y. Epub 2024 Dec 21.
9
Monitoring circulating tumor DNA liquid biopsy in stage III BRAF-mutant melanoma patients undergoing adjuvant treatment.监测接受辅助治疗的 III 期 BRAF 突变型黑色素瘤患者的循环肿瘤 DNA 液体活检。
J Transl Med. 2024 Nov 28;22(1):1074. doi: 10.1186/s12967-024-05783-7.
10
Association of Cytotoxic T-Lymphocyte Antigen-4 () Genetic Variants with Risk and Outcome of Cutaneous Melanoma.细胞毒性 T 淋巴细胞相关抗原 4(CTLA-4)基因变异与皮肤黑色素瘤的风险和预后的关联。
Int J Mol Sci. 2024 Nov 17;25(22):12327. doi: 10.3390/ijms252212327.