琥珀酸脱氢酶缺陷相关病变的诊断研究。
Diagnostic Investigation of Lesions Associated with Succinate Dehydrogenase Defects.
机构信息
Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
Department of Internal Medicine, Division of Endocrinology, Radboud University Medical Centre, Nijmegen, The Netherlands.
出版信息
Horm Metab Res. 2019 Jul;51(7):414-418. doi: 10.1055/a-0586-3710. Epub 2018 Apr 4.
Abstract
The mitochondrial enzyme succinate dehydrogenase (SDH) acts as a tumor suppressor. Biallelic inactivation of one of the genes encoding for SDH subunits (collectively named SDHx) leads to complete loss of the protein function and the development of diverse group of tumors. Pheochromocytomas-paragangliomas are the prime example of hereditary tumors caused by SDH deficiency. In this review, we discuss the roles of imaging examinations, and illustrate new insights into genotype-imaging phenotype relationships.
摘要
线粒体酶琥珀酸脱氢酶 (SDH) 作为一种肿瘤抑制因子。编码 SDH 亚基的基因之一（统称为 SDHx）的双等位基因失活会导致蛋白功能完全丧失，并引发多种肿瘤。嗜铬细胞瘤-副神经节瘤是由 SDH 缺乏引起的遗传性肿瘤的主要范例。在这篇综述中，我们讨论了影像学检查的作用，并举例说明了基因型-影像学表型关系的新见解。
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