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黑色素瘤的基因组特征及其治疗意义。

The Genomic Landscape of Melanoma and Its Therapeutic Implications.

机构信息

Department of Dermatology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 807, Taiwan.

Department of Dermatology, Pingtung Hospital, Ministry of Health and Welfare, Pingtung 900, Taiwan.

出版信息

Genes (Basel). 2023 Apr 29;14(5):1021. doi: 10.3390/genes14051021.

DOI:10.3390/genes14051021
PMID:37239381
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10218388/
Abstract

Melanoma is one of the most aggressive malignancies of the skin. The genetic composition of melanoma is complex and varies among different subtypes. With the aid of recent technologies such as next generation sequencing and single-cell sequencing, our understanding of the genomic landscape of melanoma and its tumor microenvironment has become increasingly clear. These advances may provide explanation to the heterogenic treatment outcomes of melanoma patients under current therapeutic guidelines and provide further insights to the development of potential new therapeutic targets. Here, we provide a comprehensive review on the genetics related to melanoma tumorigenesis, metastasis, and prognosis. We also review the genetics affecting the melanoma tumor microenvironment and its relation to tumor progression and treatment.

摘要

黑色素瘤是皮肤最具侵袭性的恶性肿瘤之一。黑色素瘤的遗传组成复杂,不同亚型之间存在差异。借助于下一代测序和单细胞测序等新技术,我们对黑色素瘤的基因组景观及其肿瘤微环境的认识变得越来越清晰。这些进展可能解释了当前治疗指南下黑色素瘤患者治疗结果的异质性,并为潜在新治疗靶点的开发提供了更深入的见解。在这里,我们对与黑色素瘤发生、转移和预后相关的遗传学进行了全面的综述。我们还回顾了影响黑色素瘤肿瘤微环境的遗传学及其与肿瘤进展和治疗的关系。

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本文引用的文献

1
Mutated processes predict immune checkpoint inhibitor therapy benefit in metastatic melanoma.突变过程可预测转移性黑色素瘤免疫检查点抑制剂治疗的获益。
Nat Commun. 2022 Sep 19;13(1):5151. doi: 10.1038/s41467-022-32838-4.
2
Exploration and validation of metastasis-associated genes for skin cutaneous melanoma.皮肤黑色素瘤转移相关基因的探索和验证。
Sci Rep. 2022 Jul 29;12(1):13002. doi: 10.1038/s41598-022-17468-6.
3
Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma.瑞普替尼治疗 KIT 改变型转移性黑色素瘤患者的疗效和安全性。
ESMO Open. 2022 Aug;7(4):100520. doi: 10.1016/j.esmoop.2022.100520. Epub 2022 Jun 23.
4
Global Burden of Cutaneous Melanoma in 2020 and Projections to 2040.2020 年全球皮肤黑色素瘤负担及 2040 年预测。
JAMA Dermatol. 2022 May 1;158(5):495-503. doi: 10.1001/jamadermatol.2022.0160.
5
Phase Ib/II Trial of Ribociclib in Combination with Binimetinib in Patients with NRAS-mutant Melanoma.Ribociclib 联合 Binimetinib 治疗NRAS 突变型黑色素瘤患者的 Ib/II 期临床试验。
Clin Cancer Res. 2022 Jul 15;28(14):3002-3010. doi: 10.1158/1078-0432.CCR-21-3872.
6
A decade of checkpoint blockade immunotherapy in melanoma: understanding the molecular basis for immune sensitivity and resistance.黑色素瘤的十年检查点阻断免疫治疗:了解免疫敏感性和耐药性的分子基础。
Nat Immunol. 2022 May;23(5):660-670. doi: 10.1038/s41590-022-01141-1. Epub 2022 Mar 3.
7
Identification of Potential Core Genes Between Primary and Metastatic Malignant Melanoma and Analysis of Their Immune Correlation.原发性和转移性恶性黑色素瘤潜在核心基因的鉴定及其免疫相关性分析
Int J Gen Med. 2022 Jan 11;15:379-391. doi: 10.2147/IJGM.S338890. eCollection 2022.
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Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.家族性黑色素瘤与易感基因:最常见临床及皮肤镜表型、相关恶性肿瘤综述及管理实用技巧
J Clin Med. 2021 Aug 23;10(16):3760. doi: 10.3390/jcm10163760.
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Mucosal Melanoma: Pathological Evolution, Pathway Dependency and Targeted Therapy.黏膜黑色素瘤:病理演变、通路依赖性与靶向治疗
Front Oncol. 2021 Jul 19;11:702287. doi: 10.3389/fonc.2021.702287. eCollection 2021.
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NRAS mutant melanoma: Towards better therapies.NRAS 突变型黑色素瘤:迈向更好的治疗方法。
Cancer Treat Rev. 2021 Sep;99:102238. doi: 10.1016/j.ctrv.2021.102238. Epub 2021 May 29.