Juvenile-onset Hereditary Pheochromocytoma-paraganglioma Syndrome

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著者

    • Sugisawa Chiho
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
    • Okada Yosuke
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
    • Arao Tadashi
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
    • Mori Hiroko
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
    • Nishida Keiko
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan
    • Isobe Kazumasa
    • Molecular Clinical Pathology, Graduate School of Comprehensive Human Sciences (Institute of Clinical Medicine), University of Tsukuba, Japan
    • Takekoshi Kazuhiro
    • Molecular Clinical Pathology, Graduate School of Comprehensive Human Sciences (Institute of Clinical Medicine), University of Tsukuba, Japan
    • Tanaka Yoshiya
    • The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan

抄録

It is insufficient to distinguish benign tumors from malignant pheochromocytoma using histological analyses of resected tissue alone. We experienced an 18-year-old woman who complained of severe headaches in whom hypertension was revealed. She was suspected of having a malignant tumor based on her clinical characteristics, despite showing no evidence of metastatic lesions. The patient was diagnosed with an aggressive form of hereditary pheochromocytoma-paraganglioma syndrome (HPPS) based on immunohistochemical analyses and genetic testing. The present case indicates that conducting genetic testing, including SDHB mutation analyses, is required to determine the prognosis in patients highly suspected of having HPPS.<br>

収録刊行物

  • Internal Medicine

    Internal Medicine 52(2), 281-284, 2013

    一般社団法人 日本内科学会

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