基因检测在实体瘤预后和治疗中的作用。文献综述

IF 0.5 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL
V. Rădoi, L. Pop, O. Maioru, Delia Sabau, Andra Dan, María Riza, L. Bohiltea
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引用次数: 0

摘要

摘要简介:癌症是导致死亡的主要原因,也是世界上每个国家增加预期寿命的重要障碍。在肿瘤发生过程中,遗传和表观遗传变化导致与细胞通路相关的基因异常表达,这些基因协调细胞增殖、细胞分化、细胞死亡和细胞周期等极其重要的功能。方法:目前已有超过200种生物标志物驱动的药物被批准用于治疗各种类型的癌症。分析有价值的生物标志物以确定其在特定治疗中的重要性。肿瘤患者的精准医疗已被认为是治疗实体瘤的一种有价值的方法。结果:各种基因及其突变或有直接致病作用,或提示肿瘤病理的一定预后。广泛的分子图谱和完整的肿瘤遗传异质性特征的综合基因检测应该包含与专业实践、指南和临床试验相一致的基因,每个基因的完整编码区覆盖,以及针对独特的新兴和可操作的标记。当广泛的基因组图谱确定了包括免疫疗法和靶向药物在内的治疗方案时,或者在先前治疗后发生复发或疾病进展时,使用这种全面的测试是有用的。结论:对于实体瘤患者,个体化治疗已被认为是一种成功的治疗策略,但由于肿瘤异质性、克隆进化和独立的耐药机制等特异性标志,尚不足以将肿瘤的生长和进展控制到单分子改变。早期的研究已经评估了使用多基因面板筛查方法进行个性化癌症治疗的有效性,但结果存在争议。在循环肿瘤DNA分析领域的未来研究可能是克服这些局限性的关键。液体活检可以对所有确诊为实体瘤的患者进行动态分子分析,提高准确性、预后和管理
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The role of genetic testing in the prognosis and management of solid tumors. A literature review
Abstract Introduction: Cancer is the leading cause of death and an important impediment to increasing life expectancy in every country of the world. During the process of oncogenesis, genetic and epigenetic changes lead to abnormal expression of genes associated with cellular pathways that coordinate extremely important functions such as cell multiplication, cell differentiation, cell death, and cell cycle. Methods: There are over 200 approved biomarker-driven drugs for various types of cancer. Valuable biomarkers are analyzed to establish their importance in specific therapies. Precision medicine for oncological patients has been recognized as a valuable approach to solid tumors. Results: Various genes and their mutations either have a direct pathogenic effect or can give hints to a certain prognosis regarding the oncological pathology. A comprehensive genetic test for a broad molecular profile and complete characterization of tumor genetic heterogenicity should contain genes that are aligned with professional practice, guidelines and clinical trials, full coding region coverage for each gene and targeting of unique emerging and actionable markers. It is useful to use such a comprehensive test when a broad genomic profile identifies treatment options including immunotherapies and targeted drugs for patient enrollment or when relapse or disease progression has occurred after prior therapies. Conclusions: For patients with solid tumors, personalized medicine has been recognized as a successful strategy treatment, but it is not sufficient to seize cancer growth and progression up to a single molecular alteration due to specific hallmarks such as tumor heterogeneity, clonal evolution, and independent resistance mechanisms. Earlier studies have evaluated the effectiveness of using multigene panel screening methods for personalized cancer therapy, with controversial results. Future research in the field of circulating tumor DNA analysis might be the key to overcoming some of these limitations. The liquid biopsy could enable dynamic molecular profiling of all patients diagnosed with solid tumors enhancing accuracy, prognosis, and management
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来源期刊
Revista Romana De Medicina De Laborator
Revista Romana De Medicina De Laborator MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
0.31
自引率
20.00%
发文量
43
审稿时长
>12 weeks
期刊介绍: The aim of the journal is to publish new information that would lead to a better understanding of biological mechanisms of production of human diseases, their prevention and diagnosis as early as possible and to monitor therapy and the development of the health of patients
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