Abstract Context Mutations in genes encoding for succinate dehydrogenase (SDH) complex are linked to hereditary paraganglioma syndromes. Paraganglioma syndrome 3 (PGL3) is associated with mutations in SDHC and typically manifests as benign, nonfunctional head and neck paragangliomas. Case Description We describe a case of a 51-year-old woman who initially presented with diarrhea and hypertension and was found to have a retroperitoneal mass, which was resected with a pathology consistent with paraganglioma. Five years later, her symptoms recurred and she was found to have new retroperitoneal lymphadenopathy and lytic lesions in the first lumbar vertebral body and the right iliac crest which were visualized on CT scan and Octreoscan, but not on Iodine-123-meta-iodobenzylguanidine (123 I-MIBG) and bone scans. She had significantly elevated 24-hour urine norepinephrine and dopamine. The patient received external beam radiation and a series of different antineoplastic agents. Her disease progressed and she eventually expired within 2 years. Genetic testing revealed a heterozygous SDHC c.43C>T, p.Arg15X mutation, which was also detected in her daughter and her grandson, both of whom have no biochemical or imaging evidence of paraganglioma syndrome yet. Conclusion We report a unique case of functional, metastatic abdominal paraganglioma associated with SDHC germline mutation. To our knowledge, no similar case has been reported in the literature. Our case exemplifies that SDHC germline mutation has variable penetrance, which may manifest with an aggressive biology that could be missed by 123 I-MIBG scan. Copyright © 2018 Endocrine Society
Journal of Clinical Endocrinology and Metabolism – Oxford University Press
Published: Jun 6, 2018
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