Diagnostic Investigation of Lesions Associated with Succinate Dehydrogenase Defects
David Taïeb1, Henri Timmers2, Karel Pacak3
1Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France.
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.
Insights
Succinate dehydrogenase (SDH) deficiency causes tumors like pheochromocytomas. This review explores imaging techniques and genotype-imaging links in SDH-deficient tumors.
Area of Science:
- Biochemistry
- Oncology
- Genetics
Background:
- Mitochondrial enzyme succinate dehydrogenase (SDH) functions as a tumor suppressor.
- Inactivating mutations in SDH subunit genes (SDHx) cause loss of function and tumor development.
- Pheochromocytomas and paragangliomas are hereditary tumors linked to SDH deficiency.
Purpose of the Study:
- To review the role of imaging examinations in SDH-deficient tumors.
- To present new insights into genotype-imaging phenotype relationships in these tumors.
Main Methods:
- Literature review of imaging modalities for SDH-deficient tumors.
- Analysis of genotype-imaging phenotype correlations.
Main Results:
- Imaging plays a crucial role in diagnosing and characterizing SDH-deficient tumors.
- Specific imaging features correlate with distinct SDHx mutations.
- Understanding these relationships aids in personalized diagnosis and management.
Conclusions:
- Imaging is essential for evaluating patients with suspected SDH-related tumors.
- Genotype-imaging phenotype correlations offer valuable diagnostic and prognostic information.
- Further research can refine imaging protocols for SDH deficiency.
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