Head and Neck Paraganglioma Atypically Carrying a Succinate Dehydrogenase Subunit B Mutation (L157X)

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. Mut...

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Detalles Bibliográficos
Autores principales: Takeshima, Ken, Ariyasu, Hiroyuki, Uraki, Shinsuke, Kitahara, Chie, Morita, Shuhei, Inaba, Hidefumi, Iwakura, Hiroshi, Warigaya, Kenji, Murata, Shin-ichi, Yamazaki, Yuto, Sasano, Hironobu, Akamizu, Takashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270757/
https://www.ncbi.nlm.nih.gov/pubmed/32023584
http://dx.doi.org/10.2169/internalmedicine.3607-19
Descripción
Sumario: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.

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