Head and Neck Paraganglioma Atypically Carrying a Succinate Dehydrogenase Subunit B Mutation (L157X)
| Autor: | Hironobu Sasano, Hiroshi Iwakura, Ken Takeshima, Kenji Warigaya, Chie Kitahara, Shinsuke Uraki, Shin-ichi Murata, Takashi Akamizu, Hiroyuki Ariyasu, Shuhei Morita, Hidefumi Inaba, Yuto Yamazaki |
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| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty biology SDHB business.industry Succinate dehydrogenase General Medicine 030204 cardiovascular system & hematology medicine.disease Carotid Body Paraganglioma 03 medical and health sciences 0302 clinical medicine Paraganglioma Mutation (genetic algorithm) Internal Medicine biology.protein medicine Immunohistochemistry 030211 gastroenterology & hepatology SDHD business Pathological |
| Zdroj: | Internal Medicine. 59:1167-1171 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.3607-19 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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