Serum succinate/fumarate ratio in paraganglioma/pheochromocytoma patients attending an endocrine oncogenetic unit.
Léo-Paul BancelVincent MassoAnne-Frederique DesseinSébastien AubertEmmanuelle LeteurtreLucie CoppinMarie-Françoise OdouChristine Do CaoCatherine Cardot-BautersPascal PignyPublished in: The Journal of clinical endocrinology and metabolism (2023)
Measurement of serum RS/F in PPGL patients and in asymptomatic relatives is a valuable initial workup tool to detect those carrying a germline PV/LPV in SDHx. Its discriminative power is equal to superior to those of succinate measured alone. SDHD PV/LPV are less frequently identified by these biochemical tools. Use of RS/F for SDHx VUS reclassification needs to be further evaluated.