Université Pierre et Marie Curie, Faculté de Médecine, Service de Médecine Nucléaire Hôpital Pitié-Salpêtrière, Paris, France.
INSERM UMR970, Paris-Cardiovascular Research Center, Equipe Labellisée Ligue Contre le Cancer, 56 rue Leblanc, F-75015, Paris, France.
Cell Tissue Res. 2018 May;372(2):379-392. doi: 10.1007/s00441-018-2797-y. Epub 2018 Feb 9.
Paragangliomas and pheochromocytomas are rare neuroendocrine tumors characterized by a large spectrum of hereditary predisposition. Based on gene expression profiling classification, they can be classically assigned to either a hypoxic/angiogenic cluster (cluster 1 including tumors with mutations in SDHx, VHL and FH genes) or a kinase-signaling cluster (cluster 2 consisting in tumors related to RET, NF1, TMEM127 and MAX genes mutations, as well as most of the sporadic tumors). The past 15 years have seen the emergence of an increasing number of genetically engineered and grafted models to investigate tumorigenesis and develop new therapeutic strategies. Among them, only cluster 2-related predisposed models have been successful but grafted models are however available to study cluster 1-related tumors. In this review, we present an overview of existing rodent models targeting predisposition genes involved or not in human pheochromocytoma/paraganglioma susceptibility and their contribution to the improvement of pheochromocytoma experimental research.
嗜铬细胞瘤和副神经节瘤是罕见的神经内分泌肿瘤,其具有广泛的遗传易感性。基于基因表达谱分类,它们通常可分为缺氧/血管生成簇(包括 SDHx、VHL 和 FH 基因突变的肿瘤,簇 1)或激酶信号簇(簇 2 包括与 RET、NF1、TMEM127 和 MAX 基因突变相关的肿瘤,以及大多数散发性肿瘤)。在过去的 15 年中,出现了越来越多的基因工程和移植模型,用于研究肿瘤发生和开发新的治疗策略。其中,只有与簇 2 相关的易感模型取得了成功,但移植模型可用于研究与簇 1 相关的肿瘤。在这篇综述中,我们概述了现有的啮齿动物模型,这些模型针对涉及或不涉及人类嗜铬细胞瘤/副神经节瘤易感性的易感基因,并介绍了它们对改善嗜铬细胞瘤实验研究的贡献。