Head and Neck Paraganglioma Atypically Carrying a <i>Succinate Dehydrogenase Subunit B</i> Mutation (L157X)
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- Takeshima Ken
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Ariyasu Hiroyuki
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Uraki Shinsuke
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Kitahara Chie
- Department of Pathology, Tohoku University Graduate School of Medicine, Japan
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- Morita Shuhei
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Inaba Hidefumi
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Iwakura Hiroshi
- First Department of Internal Medicine, Wakayama Medical University, Japan
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- Warigaya Kenji
- Department of Human Pathology, Wakayama Medical University, Japan
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- Murata Shin-ichi
- Department of Human Pathology, Wakayama Medical University, Japan
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- Yamazaki Yuto
- Department of Pathology, Tohoku University Graduate School of Medicine, Japan
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- Sasano Hironobu
- Department of Pathology, Tohoku University Graduate School of Medicine, Japan
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- Akamizu Takashi
- First Department of Internal Medicine, Wakayama Medical University, Japan
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抄録
<p>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 (L157X) more typical of an SDHD mutation. SDHB immunohistochemistry is useful for detecting SDHx mutations, but careful interpretation is needed. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 59 (9), 1167-1171, 2020-05-01
一般社団法人 日本内科学会