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嗜铬细胞瘤和副神经节瘤的精准医学

Precision Medicine in Phaeochromocytoma and Paraganglioma.

作者信息

Winzeler Bettina, Challis Benjamin G, Casey Ruth T

机构信息

Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, 4031 Basel, Switzerland.

Department of Clinical Research, University of Basel, 4031 Basel, Switzerland.

出版信息

J Pers Med. 2021 Nov 22;11(11):1239. doi: 10.3390/jpm11111239.

Abstract

Precision medicine is a term used to describe medical care, which is specifically tailored to an individual patient or disease with the aim of ensuring the best clinical outcome whilst reducing the risk of adverse effects. Phaeochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours with uncertain malignant potential. Over recent years, the molecular profiling of PPGLs has increased our understanding of the mechanisms that drive tumorigenesis. A high proportion of PPGLs are hereditary, with non-hereditary tumours commonly harbouring somatic mutations in known susceptibility genes. Through detailed interrogation of genotype-phenotype, correlations PPGLs can be classified into three different subgroups or clusters. Thus, PPGLs serve as an ideal paradigm for developing, testing and implementing precision medicine concepts in the clinic. In this review, we provide an overview of PPGLs and highlight how detailed molecular characterisation of these tumours provides current and future opportunities for precision oncology.

摘要

精准医学是一个用于描述医疗护理的术语,它是专门针对个体患者或疾病量身定制的,目的是确保获得最佳临床结果,同时降低不良反应的风险。嗜铬细胞瘤和副神经节瘤(PPGL)是罕见的神经内分泌肿瘤,其恶性潜能不确定。近年来,PPGL的分子谱分析增进了我们对驱动肿瘤发生机制的理解。很大一部分PPGL是遗传性的,非遗传性肿瘤通常在已知的易感基因中存在体细胞突变。通过对基因型-表型相关性的详细研究,PPGL可分为三个不同的亚组或簇。因此,PPGL是在临床中开发、测试和实施精准医学概念的理想范例。在本综述中,我们概述了PPGL,并强调了这些肿瘤的详细分子特征如何为精准肿瘤学提供当前和未来的机会。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/030a/8620689/db046cb64492/jpm-11-01239-g001.jpg

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