c-kit, PDGFRA의 면역조직화학적 발현 양상과 변이 분석을 통한 위장관기질종양 진단의 접근
An Approach to Diagnosing Gastrointestinal Stromal Tumors Using Immunohistochemistry of c-kit and PDGFRA with Molecular Analysis
김정식, 김재훈, 오현진, 서인수, 김종광, 유완식, 정호영, 배한익,
소속 상세정보
김정식 ( Kim Jeong-Shik )
경북대학교병원 병리과
김재훈 ( Kim Jae-Hoon )
경북대학교병원 병리과
오현진 ( Oh Hyun-Jin )
경북대학교병원 병리과
서인수 ( Suh In-Soo )
경북대학교병원 병리과
김종광 ( Kim Jong-Gwang )
경북대학교병원 혈액종양내과
유완식 ( Yu Wan-Sik )
경북대학교병원 외과
정호영 ( Chung Ho-Young )
경북대학교병원 외과
배한익 ( Bae Han-Ik )
경북대학교병원 병리과
KMID : 0357920100440020173
Abstract
Background: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the gastrointestinal tract. Recently, many methods for the diagnosis of GIST have been developed including molecular diagnosis.
Methods: We selected 90 cases of GIST that had presented at Kyungpook National University Hospital between 1998 and 2007. Tissue microarrays were made using core areas of tumor tissues. Immunohistochemical staining for c-kit, protein kinase C-theta, and platelet-derived growth factor receptor alpha (PDGFRA) was done. Direct sequencing of hot spot exonal areas for c-kit and PDGFRA were done using extracted DNAs of all 90 paraffin block tissues.
Results: Among the 90 cases, 83.3% (75/90) were c-kit positive, 16.6% (15/90) were c-kit negative, 93.3% (84/90) were PDGFRA positive, and 6.6% (6/90) cases were PDGFRA negative. Fifteen cases of c-kit negative GIST included 1 case of PDGFRA negative and 5 cases of PDGFRA negative GIST were ckit positive. The one case in which both c-kit and PDGFRA were negative, showed a c-kit mutation in exon 11.
Conclusions: Combined immunohistochemical staining of c-kit, discovered on GIST 1 (DOG1) and PDGFRA is helpful for the diagnosis of GIST. When all staining tests are negative for immunoreactivity, c-kit mutation analysis for exon 11, 9 should be done. Genotyping of kit and PDGFRA do not need to be examined initially, if it is only for the diagnosis of GIST.
키워드
Gastrointestinal stromal tumors;c-kit;Receptors;platelet-derived growth factor alpha (PDGFRA);Mutation;Sequence analysis
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