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SDH Paraganglioma — SCE Medical Oncology MCQ

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HardCancer GeneticsSDH ParagangliomaSCE Medical Oncology

A 55-year-old man with SDH-deficient (SDHB germline mutation) paraganglioma-phaeochromocytoma syndrome asks about cancer surveillance. What tumour types are associated with SDH mutations?

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Correct answer: B — Paraganglioma, phaeochromocytoma, GIST and renal cell carcinoma

SDH (succinate dehydrogenase) mutations cause hereditary paraganglioma-phaeochromocytoma syndromes. SDHB mutations carry the highest malignancy risk (~30-70% lifetime risk of metastatic paraganglioma). Associated tumours: paragangliomas (head/neck, sympathetic), phaeochromocytomas, GIST (SDH-deficient, imatinib-resistant — distinct from KIT/PDGFRA-mutant GIST), renal cell carcinoma, and rarely pituitary adenomas. Surveillance includes: annual catecholamines/metanephrines, biennial whole-body MRI, and targeted imaging for symptomatic sites. Genetic cascade testing of family members is essential.

Reference: https://www.nice.org.uk/guidance/conditions-and-diseases/cancer