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与基因不稳定相关的分子改变是否值得作为生物标志物,用于指导或排除黑色素瘤患者接受免疫治疗?

Are Molecular Alterations Linked to Genetic Instability Worth to Be Included as Biomarkers for Directing or Excluding Melanoma Patients to Immunotherapy?

作者信息

Palmieri Giuseppe, Rozzo Carla Maria, Colombino Maria, Casula Milena, Sini Maria Cristina, Manca Antonella, Pisano Marina, Doneddu Valentina, Paliogiannis Panagiotis, Cossu Antonio

机构信息

Institute of Genetic and Biomedical Research (IRGB), National Research Council (CNR), Sassari, Italy.

Institute of Biomolecular Chemistry (ICB), National Research Council (CNR), Sassari, Italy.

出版信息

Front Oncol. 2021 May 5;11:666624. doi: 10.3389/fonc.2021.666624. eCollection 2021.

DOI:10.3389/fonc.2021.666624
PMID:34026645
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8132875/
Abstract

The improvement of the immunotherapeutic potential in most human cancers, including melanoma, requires the identification of increasingly detailed molecular features underlying the tumor immune responsiveness and acting as disease-associated biomarkers. In recent past years, the complexity of the immune landscape in cancer tissues is being steadily unveiled with a progressive better understanding of the plethora of actors playing in such a scenario, resulting in histopathology diversification, distinct molecular subtypes, and biological heterogeneity. Actually, it is widely recognized that the intracellular patterns of alterations in driver genes and loci may also concur to interfere with the homeostasis of the tumor microenvironment components, deeply affecting the immune response against the tumor. Among others, the different events linked to genetic instability-aneuploidy/somatic copy number alteration (SCNA) or microsatellite instability (MSI)-may exhibit opposite behaviors in terms of immune exclusion or responsiveness. In this review, we focused on both prevalence and impact of such different types of genetic instability in melanoma in order to evaluate whether their use as biomarkers in an integrated analysis of the molecular profile of such a malignancy may allow defining any potential predictive value for response/resistance to immunotherapy.

摘要

在包括黑色素瘤在内的大多数人类癌症中,提高免疫治疗潜力需要识别越来越详细的肿瘤免疫反应潜在分子特征,并将其作为疾病相关生物标志物。近年来,随着对癌症组织中众多参与者的逐步深入了解,癌症组织中免疫格局的复杂性正在逐步被揭示,导致组织病理学多样化、不同分子亚型和生物异质性。实际上,人们普遍认识到驱动基因和位点的细胞内改变模式也可能干扰肿瘤微环境成分的稳态,从而深刻影响针对肿瘤的免疫反应。其中,与基因不稳定相关的不同事件——非整倍体/体细胞拷贝数改变(SCNA)或微卫星不稳定(MSI)——在免疫排斥或反应方面可能表现出相反的行为。在本综述中,我们重点关注了黑色素瘤中此类不同类型基因不稳定的发生率和影响,以评估在对这种恶性肿瘤的分子图谱进行综合分析时,将它们用作生物标志物是否能够确定对免疫治疗反应/耐药的任何潜在预测价值。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/5d907ebf9fc0/fonc-11-666624-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/e5478c50e9ed/fonc-11-666624-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/693713f184c7/fonc-11-666624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/5d907ebf9fc0/fonc-11-666624-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/e5478c50e9ed/fonc-11-666624-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/693713f184c7/fonc-11-666624-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c966/8132875/5d907ebf9fc0/fonc-11-666624-g003.jpg

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本文引用的文献

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2
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Cell. 2021 Feb 4;184(3):596-614.e14. doi: 10.1016/j.cell.2021.01.002. Epub 2021 Jan 27.
3
Colorectal Cancer Biology, Diagnosis, and Therapeutic Approaches.结直肠癌生物学、诊断和治疗方法。
PD-L1 表达在皮肤血管肉瘤中的作用:系统回顾和荟萃分析。
Curr Oncol. 2023 May 17;30(5):5135-5144. doi: 10.3390/curroncol30050388.
4
The Emerging Burden of Genetic Instability and Mutation in Melanoma: Role of Molecular Mechanisms.黑色素瘤中遗传不稳定性和突变的新负担:分子机制的作用
Cancers (Basel). 2022 Dec 15;14(24):6202. doi: 10.3390/cancers14246202.
5
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Front Oncol. 2022 Apr 19;12:880876. doi: 10.3389/fonc.2022.880876. eCollection 2022.
Crit Rev Oncog. 2020;25(2):71-94. doi: 10.1615/CritRevOncog.2020035067.
4
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5
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