A unique case of metastatic, functional, hereditary paraganglioma associated with an SDHC germline mutation

Raquel Kristin S. Ong, Shahida K. Flores, Robert L. Reddick, Patricia L.M. Dahia, Hassan Shawa

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Context: Mutations in genes encoding for the succinate dehydrogenase (SDH) complex are linked to hereditary paraganglioma syndromes. Paraganglioma syndrome 3 is associated with mutations in SDHC and typically manifests as benign, nonfunctional head and neck paragangliomas. Design: 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. Our case exemplifies that SDHC germline mutation has variable penetrance, which may manifest with an aggressive biology that could be missed by a 123 I-MIBG scan.

Original languageEnglish (US)
Pages (from-to)2802-2806
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume103
Issue number8
DOIs
StatePublished - 2018

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Fingerprint Dive into the research topics of 'A unique case of metastatic, functional, hereditary paraganglioma associated with an SDHC germline mutation'. Together they form a unique fingerprint.

Cite this