Head and neck paraganglioma atypically carrying a succinate dehydrogenase subunit B mutation (L157X)

Ken Takeshima, Hiroyuki Ariyasu, Shinsuke Uraki, Chie Kitahara, Shuhei Morita, Hidefumi Inaba, Hiroshi Iwakura, Kenji Warigaya, Shin Ichi Murata, Yuto Yamazaki, Hironobu Sasano, Takashi Akamizu

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

A 53-year-old woman was admitted to a hospital for gradual left-ear hearing loss over 2 years. Head computed tomography revealed a 2-cm mass along the left jugular bulb and another at the right carotid bulb. The right tumor was resected; the pathological diagnosis was carotid body paraganglioma. Mutations of succinate dehydrogenase (SDH) were suspected, but SDHB staining remained in the tumor. Genetic testing identified a known SDHB mutation (L157X). The patient had head and neck paraganglioma with an SDHB mutation (L 157X) more typical of an SDHD mutation. SDHB immunohistochemistry is useful for detecting SDHx mutations, but careful interpretation is needed.

Original languageEnglish
Pages (from-to)1167-1171
Number of pages5
JournalInternal Medicine
Volume59
Issue number9
DOIs
Publication statusPublished - 2020

Keywords

  • Brown adipose tissue
  • Head and neck paraganglioma
  • L157X
  • Paraganglioma
  • Positron emission tomography
  • Succinate dehydrogenase

ASJC Scopus subject areas

  • Internal Medicine

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