Key result
Histologic and molecular evaluation of SDH-deficient tumors drives accurate risk stratification and treatment selection.
Why the study?
Recognition of SDH deficiency has immediate implications for risk stratification, treatment selection, and identification of patients requiring genetic counseling and family surveillance.
Provides a practical workflow for surgical pathologists to recognize SDH-deficient tumors, which has immediate implications for risk stratification, treatment selection, and genetic counseling.
SDH deficiency recognition may aid risk stratification in neoplasms; leaves open prospective validation of genetic referral pathways.
Succinate dehydrogenase (SDH)-deficient tumors form an expanding, clinically important group of neoplasms driven by disruption of mitochondrial complex II through germline or somatic alterations in SDHA-D or SDHAF2, or by epigenetic silencing within the pathway. For the surgical pathologist, recognition of SDH deficiency has immediate implications for risk stratification, treatment selection, and identification of patients who may require genetic counseling and family surveillance. This review provides a practical, pathology-focused overview of SDH-deficient tumor syndromes, emphasizing the clinicopathologic spectrum of paraganglioma-pheochromocytoma syndromes (PGL1-5), SDH-deficient gastrointestinal stromal tumor, SDH-deficient renal cell carcinoma, Carney-Stratakis syndrome, and Carney triad. We highlight recurring morphologic cues across tumor types, outline a stepwise workflow integrating histology, SDHB and SDHA immunohistochemistry and targeted molecular testing, and discuss interpretive pitfalls.
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Juhlin et al. (2026) conducted a review in Hereditary SDH-Deficient Tumor Syndromes. Recognition of SDH-deficient tumor syndromes by surgical pathologists using histology, immunohistochemistry, and molecular testing is critical for risk stratification and treatment selection.
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