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甲状腺癌的组学科学与精准医学。

Omics sciences and precision medicine in thyroid cancer.

机构信息

MAGI'S LAB, Rovereto (TN), Italy.

MAGI EUREGIO, Bolzano, Italy.

出版信息

Clin Ter. 2023 Nov-Dec;174(Suppl 2(6)):11-20. doi: 10.7417/CT.2023.2467.

Abstract

BACKGROUND

Thyroid cancer, a heterogeneous disease originating from the thyroid gland, stands as the predominant endocrine malignan-cy worldwide. Despite advances in diagnosis and treatment, some patients still experience recurrence and mortality, which highlights the need for more personalized approaches to treatment. Omics sciences, encompassing genomics, transcriptomics, proteomics, and metabolomics, offer a high-throughput and impartial methodology for investigating the molecular signatures of thyroid cancer.

METHODS

In the course of this review, we have adopted a focu-sed research strategy, meticulously selecting the most pertinent and emblematic articles related to the topic. Our methodology included a systematic examination of the scientific literature to guarantee a thorough and precise synthesis of the existing sources.

RESULTS

These techniques enable the identification of molecular markers that can aid in diagnosis, prognosis, and treatment selection. As an illustration, through genomics studies, numerous genetic alterations commonly discovered in thyroid cancer have been identified, such as mutations in the BRAF and RAS genes. Through transcriptomics studies, distinctively expressed genes in thyroid cancer have been uncovered, playing roles in diverse biological processes, including cell proliferation, invasion, and metastasis. These genes can serve as potential targets for novel therapies. Proteomics studies have unveiled differentially expressed proteins intricately involved in thyroid cancer pathogenesis, presenting promising biomarkers for early detection and disease progression monitoring. Metabolomics studies have identified alterations in metabolic pathways linked to thyroid cancer, offering promising avenues for potential therapeutic targets.

CONCLUSIONS

Precision medicine in thyroid cancer involves the integration of omics sciences with clinical data to develop personalized treatment plans for patients. Employing targeted therapies guided by molecular markers has exhibited promising outcomes in enhancing the prognosis of thyroid cancer patients. Notably, those with advanced hyroid cancer carrying BRAF mutations have displayed substantial responses to specific targeted therapies, such as vemurafenib and dabrafenib.

摘要

背景

甲状腺癌是一种起源于甲状腺的异质性疾病,是全球主要的内分泌恶性肿瘤。尽管在诊断和治疗方面取得了进展,但仍有部分患者出现复发和死亡,这突显了需要采用更个体化的方法进行治疗。组学科学涵盖基因组学、转录组学、蛋白质组学和代谢组学,为研究甲状腺癌的分子特征提供了高通量和客观的方法。

方法

在本次综述中,我们采用了聚焦研究策略,精心挑选了与该主题最相关和最具代表性的文章。我们的方法包括对科学文献进行系统检查,以确保对现有来源进行全面、准确的综合。

结果

这些技术可以帮助识别分子标志物,辅助诊断、预后和治疗选择。例如,通过基因组学研究,已经确定了甲状腺癌中常见的许多遗传改变,如 BRAF 和 RAS 基因的突变。通过转录组学研究,发现了甲状腺癌中表达不同的基因,这些基因在多种生物学过程中发挥作用,包括细胞增殖、侵袭和转移。这些基因可以作为潜在的治疗靶点。蛋白质组学研究揭示了在甲状腺癌发病机制中差异表达的蛋白,它们是潜在的生物标志物,可用于早期检测和疾病进展监测。代谢组学研究鉴定了与甲状腺癌相关的代谢途径的改变,为潜在的治疗靶点提供了有希望的途径。

结论

甲状腺癌的精准医学涉及将组学科学与临床数据相结合,为患者制定个性化的治疗计划。通过针对分子标志物的靶向治疗,已显示出改善甲状腺癌患者预后的良好效果。值得注意的是,携带 BRAF 突变的晚期甲状腺癌患者对特定的靶向治疗,如 vemurafenib 和 dabrafenib,显示出显著的反应。

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