JaLCDOI 10.18926/AMO/31988
フルテキストURL fulltext.pdf
著者 Tate, Genshu| Suzuki, Takao| Kishimoto, Koji| Mitsuya, Toshiyuki|
抄録 <p>Mutations of the c-KIT gene have been reported not only in gastrointestinal stromal tumors and mast cell tumors, but also in testicular germ cell tumors (TGCTs). In the present study we employed polymerase chain reaction and DNA sequencing analysis to characterize the c-KIT gene in a 29-year-old Japanese patient with bilateral testicular seminomas. Direct sequence analyses revealed a single base substitution in exon 17 in one c-KIT allele, resulting in an amino acid substitution of D816H in this mutated allele. This mutation was found in the left, but not in the right, testicular seminoma. This is the first description of a c-KIT gene mutation in a Japanese patient with bilateral TGCT. The mutational analysis of the c-KIT gene seems to provide crucial information for managing TGCT patients not only in Europe but also in Japan.</p>
キーワード testicular germ-cell tumor seminoma c-KIT CD117
Amo Type Article
発行日 2005-02
出版物タイトル Acta Medica Okayama
59巻
1号
出版者 Okayama University Medical School
開始ページ 33
終了ページ 36
ISSN 0386-300X
NCID AA00508441
資料タイプ 学術雑誌論文
言語 English
論文のバージョン publisher
査読 有り
PubMed ID 15902997
Web of Science KeyUT 000227263300005