title: A patient with myotonic dystrophy type 1 (DM 1) accompanied by laryngeal and renal cell carcinomas had a small CTG triplet repeat expansion but no somatic instability in normal tissues.
abstract: We examined (CTG)n lengths in various tissues from a 70-year-old man with myotonic dystrophy type 1 (DM 1) who had a small 60-70 (CTG), 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). 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). expansion in DM 1 patients with a small expansion may be less dominant than in patients with large expansions.
authors: Fourth Department of Internal Medicine, Saitama Medical Center.
authors: Masanobu
authors: M
authors: Kinoshita
authors: Ryuichi
authors: R
authors: Osanai
authors: Masaru
authors: M
authors: Kikkawa
authors: Akiko
authors: A
authors: Adachi
authors: Toshiyuki
authors: T
authors: Ohtake
authors: Tetsuo
authors: T
authors: Komori
authors: Kohzo
authors: K
authors: Hashimoto
authors: Shinnji
authors: S
authors: Itoyama
authors: Tetsuya
authors: T
authors: Mitarai
authors: Kazuhiko
authors: K
authors: Hirose
mesh_terms: D020132:Anticipation, Genetic; D001344:Autopsy; D015139:Blotting, Southern; D002292:Carcinoma, Renal Cell / Q000150:complications / Q000235:genetics*; D002294:Carcinoma, Squamous Cell / Q000150:complications / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D016147:Genes, Tumor Suppressor; D006801:Humans; D007822:Laryngeal Neoplasms / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications / Q000235:genetics*; D016133:Polymerase Chain Reaction; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm