ArticleThe Journal of clinical endocrinology and metabolism2025
New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- The New Tumor Predisposition Syndromes with Neuro-Oncological Relevance-A Comprehensive Review for Neuroradiologists.Clinical neuroradiology · 2026Review
- Recurrent mediastinal paraganglioma: a Case Report with a long-term follow-up.Frontiers in medicine · 2026Article
- Succinate dehydrogenase-related pheochromocytoma and paraganglioma (SDHx-PPGL): clinical and genetic insights from an Indian study.Endocrine connections · 2025Article
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Abstract
backgroundThe clinical characterization of SDHAF2-related familial paraganglioma syndrome remains elusive. The aim of this study is to contribute to the knowledge of this syndrome with valuable new information.
methodsA total of 56 individuals with the p.(Gly78Arg) variant in the SDHAF2 gene were prospectively evaluated. Of the 33 subjects who developed paragangliomas (PGLs)/pheochromocytomas (PCs) throughout follow-up, clinical, biochemical, and imaging data were collected. [68Ga]Ga-DOTA-TOC and [18F]DOPA positron emission tomography/computed tomography (PET/CT) scans were carried out on a subset of 22 patients with PGLs/PCs to compare their accuracy; surgical specimens (n = 13) were microscopically evaluated to elucidate their potential malignant behavior.
resultsOf the 33 patients (58.9%) with SDHAF2-related tumors, 17 (51.5%) were women, with a mean age at diagnosis of 38.6 ± 17.2 years. Tumor development was found to be inherited paternally in all subjects. All the patients evaluated except 1 showed head and neck PGLs. Eleven patients (33.3%) showed mediastinal and abdominal extra-adrenal PGLs and 2 patients presented PCs. Multifocality was observed in 26 subjects (78.8%). Sixteen patients (48.5%) were asymptomatic at diagnosis. Only 4 patients with PGLs/PCs showed normetanephrine or 3-methoxytyramine secretion. Metastatic disease was observed in 2 patients (6.1%). Grading System for Adrenal Pheochromocytoma and Paraganglioma score was ≥3 in 84.6% of tumors and Pheochromocytoma of the Adrenal Gland Scaled Score was ≥4 in 69.2%. [68Ga]Ga-DOTA-TOC PET/CT showed a greater detection rate (95.7%) of multifocal PGLs and metastatic lesions than [18F]DOPA PET/CT (79.3%), as well as higher mean maximum standardized uptake value.
conclusionThe current study offers new insights into the phenotypic characterization of SDHAF2-related paraganglioma syndrome including the development of extra-cervical PGLs and metastatic transformation.
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