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Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports.

Rei HiroseYuya TsurutaniChiho SugisawaKosuke InoueSachiko SuematsuMaki NagataNaoki HasegawaYukio KakutaMasato YonamineKazuhiro TakekoshiNoriko KimuraJun SaitoTetsuo Nishikawa
Published in: Journal of medical case reports (2021)
We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.
Keyphrases
  • early onset
  • case report
  • late onset
  • squamous cell carcinoma
  • small cell lung cancer
  • pulmonary embolism
  • gene expression
  • protein kinase
  • copy number