SDHA mutation
Also written as: SDHA — Succinate Dehydrogenase Complex Flavoprotein Subunit A
Genetic alteration in the SDHA gene encoding succinate dehydrogenase subunit A, associated with hereditary paraganglioma syndromes.
Full Definition
SDHA mutations represent genetic alterations in the gene encoding succinate dehydrogenase complex flavoprotein subunit A. These mutations are linked to hereditary paraganglioma-pheochromocytoma syndromes and certain gastric neuroendocrine tumors. Unlike SDHB mutations, SDHA mutations are less commonly associated with malignant transformation but require specific immunohistochemical testing for diagnosis. Patients with SDHA mutations may develop multiple tumors and require lifelong surveillance.
Usage
Usage note: Always specify which SDH subunit when referring to mutations, as each has different clinical implications.
In Context
- "Immunohistochemical loss of SDHA expression prompted genetic testing that confirmed an SDHA mutation." — Pathology report
- "The patient's family history of gastric NETs raised suspicion for an underlying SDHA mutation." — Clinical assessment