위장관 간질 종양에서 c-kit 유전자 변이
Analysis of c-kit Mutation of Gastrointestinal Stromal Tumors
박종경, 박조현, 전해명, 박승만, 임근우, 박우배, 김승남, 김인철, 박경신, 이교영, 이채영, 김진조, 진형민, 김욱,
소속 상세정보
박종경 ( Park Jong-Kyung )
가톨릭대학교 의과대학 외과학교실
박조현 ( Park Cho-Hyun )
가톨릭대학교 의과대학 외과학교실
전해명 ( Jeon Hae-Myung )
가톨릭대학교 의과대학 외과학교실
박승만 ( Park Seung-Man )
가톨릭대학교 의과대학 외과학교실
임근우 ( Lim Keun-Woo )
가톨릭대학교 의과대학 외과학교실
박우배 ( Park Woo-Bae )
가톨릭대학교 의과대학 외과학교실
김승남 ( Kim Seung-Nam )
가톨릭대학교 의과대학 외과학교실
김인철 ( Kim In-Chul )
가톨릭대학교 의과대학 외과학교실
박경신 ( Park Gyeong-Sin )
가톨릭대학교 의과대학 임상병리학교실
이교영 ( Lee Kyo-Young )
가톨릭대학교 의과대학 임상병리학교실
이채영 ( Lee Chae-Young )
가톨릭대학교 의과대학 외과학교실
김진조 ( Kim Jin-Jo )
가톨릭대학교 의과대학 외과학교실
진형민 ( Chin Hyung-Min )
가톨릭대학교 의과대학 외과학교실
김욱 ( Kim Wook )
가톨릭대학교 의과대학 외과학교실
KMID : 0371320040660050379
Abstract
Purpose: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumor, and express the KIT protein. Previous studies have reported KIT phosphorylation to be the principal biological event in the tumoriogenesis of GIST, which is generally evoked by the conformational mutation of KIT receptors. The aim of this study was to evaluate the frequency and category of c-kit mutations and their prognostic relevance.
Methods: The frequency and category of the c-kit mutations and the correlation between clinical outcome and the c-kit mutations were analyzed and the significance of the c-kit mutations examined as independent prognostic factors in 84 cases of GIST. The c-kit mutations were measured by polymerase chain reaction and DNA sequencing, using an ABI 3700 sequencer.
Results: c-kit mutations were noted in 14 of the 84 cases (16.7%) of GIST. Mutations in exon 11 were found in 11 cases (78.6%), exon 9 in 2 (14.3%) and exon 13 in 1 (7.1%), but no mutation was noted in exon 17. Of the mutations in exon 11, missense mutations were observed in 9 cases and frameshift mutations in 2. Among the 14 cases with c-kit mutations, 1 (7.1%) was found in a very low risk patient, 4 (28.6%) in intermediate risk patients and 9 (64.3%) in high risk patients. The c-kit mutations were observed more frequently in high risk patients (P=0.0366). However, there was no significant difference between the c-kit mutations and the survival rate.
Conclusion: These results suggest that kit mutations might have a pathogenetic role in GIST, 550~560 in exon 11 of c-kit gene is the conserving area of mutation and c-kit mutations are uncertain as prognostic factors in GIST. However, further study will be required.
키워드
위장관 간질종양;c-kit mutation;GIST
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