肢端黑色素瘤基因组分子特征及相关治疗策略研究进展

doi:10.35541/cjd.20230046

中华皮肤科杂志 ›› 2026, e20230046.doi: 10.35541/cjd.20230046

肢端黑色素瘤基因组分子特征及相关治疗策略研究进展

李岳华石琼高天文李春英

空军军医大学西京医院皮肤科，西安 710032

收稿日期:2023-01-30 修回日期:2024-05-30 发布日期:2026-06-18
通讯作者: 李春英 E-mail:lichying@fmmu.edu.cn

Genomic and molecular characteristics and therapeutic strategies of acral melanoma

Li Yuehua, Shi Qiong, Gao Tianwen, Li Chunying

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China

Received:2023-01-30 Revised:2024-05-30 Published:2026-06-18
Contact: Li Chunying E-mail:lichying@fmmu.edu.cn

摘要/Abstract

摘要： 【摘要】近年来，肢端黑色素瘤基因组图谱研究显示，其与皮肤、黏膜以及葡萄膜黑色素瘤等其他黑色素瘤亚型有明显差异。本文综述肢端黑色素瘤的突变负荷、显著突变基因、拷贝数变异、突变特征等方面的基因组特征、相关治疗新靶点的临床及临床前研究进展。

关键词: 黑色素瘤, 肢端黑色素瘤, 肿瘤基因组, 驱动突变, 治疗靶点

Abstract: 【Abstract】 The rapid development of genome sequencing technologies and data analysis algorithms has greatly advanced the understanding of genomic features across various tumors and facilitated the identification of potential therapeutic targets. In recent years, significant progress has been made in elucidating the genomic landscape of acral melanoma, revealing marked differences between this subtype and other melanoma subtypes, including cutaneous, mucosal, and uveal melanoma. This article reviews the genomic characteristics of acral melanoma, including tumor mutational burden, recurrently mutated genes, copy number variations, and mutational signatures, and discusses recent advances in clinical and preclinical studies of emerging therapeutic targets.

Key words: Melanoma, Gene expression profiling, Acral melanoma, Tumor genome, Driver mutation

中图分类号:

李岳华石琼高天文李春英. 肢端黑色素瘤基因组分子特征及相关治疗策略研究进展[J]. 中华皮肤科杂志, 2026,e20230046. doi:10.35541/cjd.20230046

Li Yuehua, Shi Qiong, Gao Tianwen, Li Chunying. Genomic and molecular characteristics and therapeutic strategies of acral melanoma[J]. Chinese Journal of Dermatology,2026,e20230046. doi:10.35541/cjd.20230046

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肢端黑色素瘤基因组分子特征及相关治疗策略研究进展

Genomic and molecular characteristics and therapeutic strategies of acral melanoma

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