Serum Succinate/Fumarate Ratio in Patients With Paraganglioma/Pheochromocytoma Attending an Endocrine Oncogenetic Unit
Authors' conclusion
Measurement of serum RS/F in patients with PPGL 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 or superior to those of succinate measured alone. SDHD PVs/LPVs are less frequently identified by these biochemical tools. Use of RS/F for SDHx VUS reclassification needs to be evaluated further.
Study context
- Population
- Patients with PPGL or asymptomatic relatives attending an endocrine oncogenetic unit for genetic testing
- Participants
- 93 patients
- Comparison
- Serum RS/F vs succinate alone to identify SDHx germline PV/LPV
- Outcome
- Diagnostic performance (ROC analysis) for an SDHx germline PV/LPV
Methodological detailsprospective, monocentric
- Prospective
- Monocentric
Performance
As reported in the abstract
Identification of SDHx PV/LPV in patients with PPGL
- RS/F had a higher discriminant power than succinate alone to identify an SDHx PV/LPV in PPGL
- SDHD pathogenic variants (PVs)/LPVs are frequently missed
Further findings
Asymptomatic SDHB/SDHD carriers vs SDHB/SDHD-linked patients with PPGL
- Only RS/F differed between asymptomatic carriers and patients with PPGL
Functional impact of SDHx variants of unknown significance (VUS)
- RS/F could be helpful to evaluate the functional impact of VUS in SDHx
Original publication
Serum Succinate/Fumarate Ratio in Patients With Paraganglioma/Pheochromocytoma Attending an Endocrine Oncogenetic Unit. J Clin Endocrinol Metab. Published 27 February 2023. doi:10.
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