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Updated: Feb 9, 2026

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry
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Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

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SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: comprehensive

Christopher R McEvoy1, Lisa Koe2, David Y Choong1

  • 11Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Victoria, 3000 Australia.

NPJ Precision Oncology
|June 7, 2018
PubMed

Insights

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare cancer subtype. Genetic analysis revealed biallelic SDHA mutations, guiding targeted therapy and lifestyle changes for a patient.

Area of Science:

  • Oncology
  • Genetics
  • Biochemistry

Background:

  • Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype driven by mutations in SDH complex genes.
  • Understanding the genetic landscape of SDH-deficient RCC is crucial for developing effective treatments.

Observation:

  • A case of SDH-deficient RCC was characterized by biallelic SDHA mutations (germline and somatic).
  • Comprehensive genomic profiling identified SDHA pathogenic variants, confirmed by immunohistochemistry showing SDH absence.
  • Genomic analysis revealed common RCC amplifications but lacked additional common cancer driver gene variants.

Findings:

  • Targeted therapy with tyrosine kinase inhibitors proved effective, guided by the specific genetic findings.
  • The genetic results provided a rationale for the effectiveness of tyrosine kinase inhibitors over initial PD-1 inhibitor treatment.
  • The patient's understanding of SDH-related tumorigenesis mechanisms empowered informed dietary and lifestyle modifications.

Implications:

  • This case highlights the importance of comprehensive genomic profiling in diagnosing and managing rare RCC subtypes.
  • Personalized treatment strategies, including targeted therapies and lifestyle interventions, can be informed by genetic insights.
  • Further research into the genomic context of SDH-deficient RCC may uncover new therapeutic targets and improve patient outcomes.

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