Novel Mutation (L157X) in the Succinate Dehydrogenase B Gene (SDHB) in a Japanese Family with Abdominal Paraganglioma Following Lung Metastasis

DOI Web Site 被引用文献7件 参考文献29件
  • SAITO Tomohito
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • SAITO Yukihito
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • MATSUMURA Koichiro
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • TSUBOTA Yu
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • MANIWA Tomohiro
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • KANEDA Hiroyuki
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • MINAMI Ken-ichiro
    Division of Thoracic Surgery, Department of Thoracic and Cardiovascular Surgery, Kansai Medical University
  • SAKAIDA Noriko
    Department of Surgical Pathology, Kansai Medical University
  • UEMURA Yoshiko
    Department of Surgical Pathology, Kansai Medical University
  • KAWA Gen
    Department of Urology, Kansai Medical University
  • YAMAMOTO Nae
    Department of Urology, Kansai Medical University
  • FUJII Yoshimitsu
    Nakano Kodomo Hospital
  • ISOBE Kazumasa
    Graduate School of Comprehensive Human Sciences, University of Tsukuba
  • KAWAKAMI Yasushi
    Graduate School of Comprehensive Human Sciences, University of Tsukuba
  • MATSUDA Tadashi
    Department of Urology, Kansai Medical University
  • TAKEKOSHI Kazuhiro
    Graduate School of Comprehensive Human Sciences, University of Tsukuba

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抄録

Recently, nuclear genes encoding two mitochondrial complex II subunit proteins, SDHD and SDHB, have been found to be associated with the development of familial pheochromocytomas and paragangliomas (hereditary pheochromocytoma/paraganglioma syndrome: HPPS). Growing evidence suggests that the mutation of SDHB is highly associated with abdominal paraganglioma and the following distant metastasis (malignant paraganglioma). In the present study, we report the case of a novel SDHB mutation (L157X) in a Japanese patient with abdominal paraganglioma following malignant lung metastasis. In addition, we identified an asymptomatic carrier of the SDHB mutation in this family.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 56 (3), 451-458, 2009

    一般社団法人 日本内分泌学会

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