CTG triplet repeat expansion in a laryngeal carcinoma from a patient with myotonic dystrophy

• Published in: Muscle & nerve Vol. 23; no. 5; pp. 804 - 806
• Main Authors: Osanai, Ryuichi, Kinoshita, Masanobu, Hirose, Kazuhiko, Homma, Toshio, Kawabata, Isuzu
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-05-2000
• Subjects: (CTG)n triplet repeats; Aged; Cell Division; Humans; laryngeal cancer; Laryngeal Neoplasms - complications; Laryngeal Neoplasms - genetics; Laryngeal Neoplasms - surgery; Leukocytes - chemistry; Male; myotonic dystrophy; Myotonic Dystrophy - complications; Myotonic Dystrophy - genetics; Myotonin-Protein Kinase; Protein-Serine-Threonine Kinases - genetics; somatic instability; Trinucleotide Repeat Expansion; tumor suppression gene
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/(SICI)1097-4598(200005)23:5<804::AID-MUS19>3.0.CO;2-E

A 66‐year‐old Japanese man with myotonic dystrophy (DM) underwent total laryngectomy for laryngeal carcinoma. The size of the expanded DNA fragment (EF) from the leukocytes and normal laryngeal tissues of this patient was only slightly longer than that in normal subjects. EF, however, was markedly longer in the laryngeal carcinoma. These findings support the hypothesis that elongation of the CTG repeat in the DM kinase gene occurs during acquired cell proliferation. © 2000 John Wiley & Sons, Inc. Muscle Nerve 23: 804–806, 2000