A Patient with Myotonic Dystrophy Type 1 (DM1) Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues.

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  • KINOSHITA Masanobu
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • OSANAI Ryuichi
    The Department of Otolaryngology, Saitama Medical Center, Saitama Medical School
  • KIKKAWA Masaru
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • ADACHI Akiko
    The Department of Pathology, Saitama Medical Center, Saitama Medical School
  • OHTAKE Toshiyuki
    The Department of Neurology, Tokyo Metropolitan Neurological Hospital
  • KOMORI Tetsuo
    The Department of Neurology, Tokyo Metropolitan Neurological Hospital
  • HASHIMOTO Kohzo
    Toyobo Gene Analysis Co. LTD, Tsuruga and 5Ueno Hospital Internal Medicine
  • ITOYAMA Shinnji
    The Department of Pathology, Saitama Medical Center, Saitama Medical School
  • MITARAI Tetsuya
    The Fourth Department of Internal Medicine, Saitama Medical Center, Saitama Medical School
  • HIROSE Kazuhiko
    Ueno Hospital Internal Medicine

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  • Patient with Myotonic Dystrophy Type 1 DM1 Accompanied by Laryngeal and Renal Cell Carcinomas Had a Small CTG Triplet Repeat Expansion But No Somatic Instability in Normal Tissues

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We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM1) who had a small 60-70 (CTG)n expansion in his leukocytes. He died of renal cell carcinoma 5 years after a total laryngectomy for laryngeal carcinoma. Southern blot and polymerase chain reaction analyses were done on tissues obtained at autopsy. In the various normal tissues, (CTG)n lengths were almost all the same size, whereas the renal cell carcinoma and metastatic tissues had longer lengths. When compared with the lengths in leukocytes about 5 years previously, (CTG)n lengths in the normal tissues were the same size. These findings suggest that both somatic instability and age-dependent (CTG)n expansion in DM1 patients with a small expansion may be less dominant than in patients with large expansions.<br>(Internal Medicine 41: 312-318, 2002)

収録刊行物

  • Internal Medicine

    Internal Medicine 41 (4), 312-318, 2002

    一般社団法人 日本内科学会

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