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

doi:10.2169/internalmedicine.3607-19

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

3 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 language	English
Pages (from-to)	1167-1171
Number of pages	5
Journal	Internal Medicine
Volume	59
Issue number	9
DOIs	https://doi.org/10.2169/internalmedicine.3607-19
Publication status	Published - 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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10.2169/internalmedicine.3607-19

Cite this

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title = "Head and neck paraganglioma atypically carrying a succinate dehydrogenase subunit B mutation (L157X)",

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.",

keywords = "Brown adipose tissue, Head and neck paraganglioma, L157X, Paraganglioma, Positron emission tomography, Succinate dehydrogenase",

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

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doi = "10.2169/internalmedicine.3607-19",

language = "English",

volume = "59",

pages = "1167--1171",

journal = "Internal Medicine",

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publisher = "Japanese Society of Internal Medicine",

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TY - JOUR

T1 - Head and neck paraganglioma atypically carrying a succinate dehydrogenase subunit B mutation (L157X)

AU - Takeshima, Ken

AU - Ariyasu, Hiroyuki

AU - Uraki, Shinsuke

AU - Kitahara, Chie

AU - Morita, Shuhei

AU - Inaba, Hidefumi

AU - Iwakura, Hiroshi

AU - Warigaya, Kenji

AU - Murata, Shin Ichi

AU - Yamazaki, Yuto

AU - Sasano, Hironobu

AU - Akamizu, Takashi

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - Brown adipose tissue

KW - Head and neck paraganglioma

KW - L157X

KW - Paraganglioma

KW - Positron emission tomography

KW - Succinate dehydrogenase

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DO - 10.2169/internalmedicine.3607-19

M3 - Article

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AN - SCOPUS:85084380040

SN - 0918-2918

VL - 59

SP - 1167

EP - 1171

JO - Internal Medicine

JF - Internal Medicine

IS - 9

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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