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

Masanobu KINOSHITA; Ryuichi OSANAI; Masaru KIKKAWA; Akiko ADACHI; Toshiyuki OHTAKE; Tetsuo KOMORI; Kohzo HASHIMOTO; Shinnji ITOYAMA; Tetsuya MITARAI; Kazuhiko HIROSE

doi:10.2169/internalmedicine.41.312

Masanobu KINOSHITA, Ryuichi OSANAI, Masaru KIKKAWA, Akiko ADACHI, Toshiyuki OHTAKE, Tetsuo KOMORI, Kohzo HASHIMOTO, Shinnji ITOYAMA, Tetsuya MITARAI, Kazuhiko HIROSE

Author information

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

Keywords: (CTG)_n triplet repeat, non-somatic instability, double cancers

JOURNAL FREE ACCESS

2002 Volume 41 Issue 4 Pages 312-318

DOI https://doi.org/10.2169/internalmedicine.41.312

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Abstract

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.
(Internal Medicine 41: 312-318, 2002)

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