Diagnostic Investigation of Lesions Associated with Succinate Dehydrogenase Defects
SourceHormone and Metabolic Research, 51, 7, (2019), pp. 414-418
Article / Letter to editor
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Hormone and Metabolic Research
SubjectRadboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences
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.
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