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.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme
|April 5, 2018
PubMed

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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