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ID 31988
JaLCDOI
フルテキストURL
Thumnail fulltext.pdf 3.54 MB
著者
Tate, Genshu Showa University
Suzuki, Takao Showa University
Kishimoto, Koji Showa University
Mitsuya, Toshiyuki Showa University
抄録

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.

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
Web of Sience KeyUT