JaLCDOI 10.18926/AMO/31988
FullText URL fulltext.pdf
Author Tate, Genshu| Suzuki, Takao| Kishimoto, Koji| Mitsuya, Toshiyuki|
Abstract <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>
Keywords testicular germ-cell tumor seminoma c-KIT CD117
Amo Type Article
Published Date 2005-02
Publication Title Acta Medica Okayama
Volume volume59
Issue issue1
Publisher Okayama University Medical School
Start Page 33
End Page 36
ISSN 0386-300X
NCID AA00508441
Content Type Journal Article
language 英語
File Version publisher
Refereed True
PubMed ID 15902997
Web of Science KeyUT 000227263300005