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Back to Biochemistry: Evaluation for and Prognostic Significance of SDH Mutations in Paragangliomas and
Sounak Gupta1, Lori A Erickson1
1Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Abstract:
There is increasing recognition of the high prevalence of hereditary predisposition syndromes in patients diagnosed with paraganglioma/pheochromocytoma. It is widely acknowledged that germline pathogenic alterations of the succinate dehydrogenase complex genes (SDHA, SDHB, SDHC, SDHD, SDHAF2) contribute to the pathogenesis of most of these tumors. Herein, we have provided an update on the biology and diagnosis of succinate dehydrogenase-deficient paraganglioma/pheochromocytoma, including the molecular biology of the succinate dehydrogenase complex, mechanisms and consequences of inactivation of this complex, the prevalence of pathogenic alterations, and patterns of inheritance.
