《嗜铬细胞瘤和副神经节瘤的新视角:迈向分子分类》

New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.

机构信息

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health.

Department of Medical Sciences, Uppsala University, Sweden.

出版信息

Endocr Rev. 2017 Dec 1;38(6):489-515. doi: 10.1210/er.2017-00062.

Abstract

A molecular biology-based taxonomy has been proposed for pheochromocytoma and paraganglioma (PPGL). Data from the Cancer Genome Atlas revealed clinically relevant prognostic and predictive biomarkers and stratified PPGLs into three main clusters. Each subgroup has a distinct molecular-biochemical-imaging signature. Concurrently, new methods for biochemical analysis, functional imaging, and medical therapies have also become available. The research community now strives to match the cluster biomarkers with the best intervention. The concept of precision medicine has been long awaited and holds great promise for improved care. Here, we review the current and future PPGL classifications, with a focus on hereditary syndromes. We discuss the current strengths and shortcomings of precision medicine and suggest a condensed manual for diagnosis and treatment of both adult and pediatric patients with PPGL. Finally, we consider the future direction of this field, with a particular focus on how advanced molecular characterization of PPGL can improve a patient's outcome, including cures and, ultimately, disease prevention.

摘要

已经提出了一种基于分子生物学的嗜铬细胞瘤和副神经节瘤(PPGL)分类法。癌症基因组图谱的数据揭示了具有临床意义的预后和预测生物标志物,并将 PPGL 分为三个主要簇。每个亚组都有独特的分子生化影像学特征。同时,新的生化分析、功能成像和医疗治疗方法也已问世。研究界现在努力将聚类生物标志物与最佳干预措施相匹配。精准医疗的概念早已备受期待,有望改善医疗服务。在这里,我们回顾了当前和未来的 PPGL 分类,重点关注遗传性综合征。我们讨论了精准医学的当前优势和局限性,并为成人和儿童 PPGL 患者的诊断和治疗提供了一份简明手册。最后,我们考虑了该领域的未来方向,特别关注 PPGL 的高级分子特征如何改善患者的预后,包括治愈和最终的疾病预防。

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