Novel germline SDHD mutation in a patient with recurrent familial carotid body tumor and concomitant pheochromocytoma

Head Neck. 2014 Dec;36(12):E131-5. doi: 10.1002/hed.23670. Epub 2014 Jun 18.

Abstract

Background: Recent advances in genetics revealed that 25% to 30% of head and neck paragangliomas (PGLs) are inherited tumors associated with germline mutation, mainly in the succinate dehydrogenase (SDH) gene.

Methods: DNA was isolated from whole blood and polymerase chain reaction (PCR) products were sequenced with an ABI3730 × 1 Genetic Analyzer.

Results: A 30-year-old Korean woman underwent resection of a carotid PGL. Fourteen years later, she was readmitted for a cervical mass. (18) F-fluorodeoxyglucose (FDG)-positron emission tomography (PET)/CT revealed a hot spot in the adrenal gland, besides the carotid mass. Surgical pathology confirmed recurrence of the carotid PGL and a concomitant pheochromocytoma. Genetic analysis revealed SDHD c.119del T (p.I40TfsX46) mutation. One daughter has been identified as a carrier.

Conclusion: We found a novel SDHD mutation from a Korean family that shows similar clinical features to those in other SDHD mutations, mostly from Western countries. Further studies are needed to determine whether similar genotype-phenotype correlations exist in the Asian patients with familial PGLs.

Keywords: carotid body tumor; gene mutation; paraganglioma; pheochromocytoma; succinate dehydrogenase.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / diagnosis
  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / therapy
  • Adult
  • Carotid Body Tumor / diagnosis
  • Carotid Body Tumor / genetics*
  • Carotid Body Tumor / therapy
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Neoplasm Recurrence, Local / diagnosis
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / therapy
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / therapy
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / genetics*
  • Pheochromocytoma / therapy
  • Succinate Dehydrogenase / genetics*

Substances

  • SDHD protein, human
  • Succinate Dehydrogenase