Microsatellite Instability and Loss of Heterozygosity as Prognostic Markers in Oral Squamous Cell Carcinoma: Molecular Mechanisms, Detection Techniques, and Therapeutic Strategies

IF 3.1 2区 医学 Q2 GENETICS & HEREDITY
Leyla Arslan Bozdag, Sevinç Inan, Sibel Elif Gultekin
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Abstract

The aim of this study was to conduct a systematic review of research investigating the potential role of microsatellite instability (MSI) and loss of heterozygosity (LOH) in oral squamous cell carcinoma (OSCC), with a focus on molecular mechanisms, detection methods, and therapeutic approaches. Search for articles involved the PubMed and Scopus. Previous retrospective and prospective studies identified variations between oral cancers that exhibit microsatellite stability and LOH. In this search, 294 articles were initially retrieved. Of these, 70 were excluded due to duplication, 106 were identified as ineligible by automated tools, and 24 were excluded as they were published in languages other than English. An additional 94 articles were excluded, 32 of which focused on head and neck cancers broadly, and 8 could not be accessed due to withdrawal. Ultimately, a systematic review was conducted based on 54 selected articles. Among the chromosomes analyzed for MSI and LOH, the highest frequency of LOH was observed on chromosome 9p. The MSI subtype is particularly susceptible to immunotherapeutic methods, such as the use of anti-PD-L1 and anti-CTLA4 antibodies, owing to its strong immunogenicity and ubiquitous expression of immune checkpoint ligands. Given the distinct characteristics and clinical behavior of oral cancer with MSI compared to microsatellite stable disease, it is advisable to incorporate MSI testing into the diagnostic process for all stages of tumor development. This ensured that each patient had received precise and effective treatment.

Abstract Image

作为口腔鳞状细胞癌预后标志物的微卫星不稳定性和异质性丢失:分子机制、检测技术和治疗策略。
本研究旨在对调查微卫星不稳定性(MSI)和杂合性缺失(LOH)在口腔鳞状细胞癌(OSCC)中的潜在作用的研究进行系统综述,重点关注分子机制、检测方法和治疗方法。文章搜索涉及 PubMed 和 Scopus。以往的回顾性和前瞻性研究发现了口腔癌在微卫星稳定性和LOH方面的差异。在这次搜索中,初步检索到 294 篇文章。其中,70 篇因重复而被排除,106 篇被自动工具识别为不合格,24 篇因以英语以外的语言发表而被排除。另有 94 篇文章被排除在外,其中 32 篇文章广泛关注头颈部癌症,8 篇文章由于撤稿而无法获取。最终,在 54 篇被选文章的基础上进行了系统综述。在分析了MSI和LOH的染色体中,9p染色体上的LOH频率最高。由于 MSI 亚型具有很强的免疫原性,而且免疫检查点配体的表达无处不在,因此特别容易受到免疫治疗方法的影响,如使用抗 PD-L1 和抗 CTLA4 抗体。与微卫星稳定型疾病相比,MSI口腔癌具有明显的特征和临床表现,因此最好将MSI检测纳入肿瘤发展各个阶段的诊断过程中。这确保了每位患者都能得到精确有效的治疗。
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来源期刊
Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer 医学-遗传学
CiteScore
7.00
自引率
8.10%
发文量
94
审稿时长
4-8 weeks
期刊介绍: Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.
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