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头颈癌:在体液中寻找基因组和表观遗传生物标志物——现状

Head and neck cancer: searching for genomic and epigenetic biomarkers in body fluids - the state of art.

作者信息

Ribeiro Ilda Patrícia, de Melo Joana Barbosa, Carreira Isabel Marques

机构信息

1Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Pólo Ciências da Saúde, Coimbra, Portugal.

2iCBR-CIMAGO - Center of Investigation on Environment Genetics and Oncobiology - Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

出版信息

Mol Cytogenet. 2019 Jul 11;12:33. doi: 10.1186/s13039-019-0447-z. eCollection 2019.

Abstract

Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage. Early detection of HNSCC plays a crucial role in a successful therapy. In the last years, the survival rates of these tumors have not improved significantly due to the late diagnosis and the lack of precise disease biomarkers and targeted therapies. The introduction in the clinical practice of body fluids to detect and analyze circulating tumor cells (CTCs), circulating tumor DNA (ctDNA) and exosomes provides a minimally or non-invasive method also called as liquid biopsy for diagnostic and prognostic biomarkers detection, representing a shift of paradigm in precision medicine through the revolution in the way to perform HNSCC diagnosis and to screen high risk population. Despite the use of body fluids being an emergent and up-to date issue to early diagnosis HNSCC and their recurrences, no strategy has yet proven to be consistently effective and able to be translated to clinical application in the routine clinical management of these patients. In this review we will discuss the recent discoveries using blood and saliva to identify biomarkers for the early detection and prognosis of HNSCC.

摘要

头颈部鳞状细胞癌(HNSCC)累及上呼吸道和消化道的多个部位,在全球范围内发病率和死亡率都很高,且常被诊断为晚期。早期检测HNSCC对成功治疗起着关键作用。在过去几年中,由于诊断较晚以及缺乏精确的疾病生物标志物和靶向治疗方法,这些肿瘤的生存率并未显著提高。在临床实践中引入体液以检测和分析循环肿瘤细胞(CTC)、循环肿瘤DNA(ctDNA)和外泌体,提供了一种微创或无创的方法,也称为液体活检,用于诊断和预后生物标志物检测,这代表了精准医学范式的转变,是通过HNSCC诊断方式和高危人群筛查方式的变革实现的。尽管使用体液进行早期诊断HNSCC及其复发是一个新出现的前沿问题,但尚无策略被证明始终有效且能够转化为这些患者常规临床管理中的临床应用。在本综述中,我们将讨论最近利用血液和唾液识别HNSCC早期检测和预后生物标志物的发现。

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