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ID 31988
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Author
Tate, Genshu
Suzuki, Takao
Mitsuya, Toshiyuki
Abstract

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.

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
Web of Sience KeyUT