New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome
Authors' conclusion
The current study offers new insights into the phenotypic characterization of SDHAF2-related paraganglioma syndrome including the development of extra-cervical PGLs and metastatic transformation.
Study context
- Population
- Carriers of the p.(Gly78Arg) SDHAF2 variant; 33 developed paragangliomas (PGLs)/pheochromocytomas (PCs) during follow-up33 with PGLs/PCs
- Participants
- 56 carriers
- Exposure
- [68Ga]Ga-DOTA-TOC PET/CT vs [18F]DOPA PET/CT
- Outcome
- Phenotype of SDHAF2-related PGLs/PCs
Main finding
As reported in the abstract
- Developed PGLs/PCs
- 33 (58.9%)
- Women
- 17 (51.5%)
- Mean age at diagnosis
- 38.6 ± 17.2 years
- Tumor development inherited paternally
- all subjects
- Head and neck PGLs
- all except 1
- Mediastinal and abdominal extra-adrenal PGLs
- 11 (33.3%)
- PCs
- 2 patients
- Multifocality
- 26 (78.8%)
- Asymptomatic at diagnosis
- 16 (48.5%)
- Normetanephrine or 3-methoxytyramine secretion
- 4 patients
- Metastatic disease
- 2 (6.1%)
Observational data: associations, not effects.
Further findings
Detection rate of multifocal PGLs and metastatic lesions
- Detection rate of multifocal PGLs and metastatic lesions: subset of 22 patients
Histological malignancy scores of surgical specimens (n = 13)
- GAPP score ≥3
- 84.6% of tumors
- PASS ≥4
- 69.2%
Detection rate of multifocal PGLs and metastatic lesions
- Higher mean maximum standardized uptake value with [68Ga]Ga-DOTA-TOC PET/CT
Original publication
New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome. J Clin Endocrinol Metab. Published 13 March 2025. doi:10.
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