Gastrointestinal Stromal Tumors associated with Neurofibromatosis Type I - A Report of Two Cases -
김주헌, 김성호, 김경희, 강동욱, 박미자, 성인옥, 이성규, 백행운, 김용일,
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김주헌 ( Kim Ju-Hun )
을지대학교 의과대학 병리학교실
김성호 ( Kim Seong-Ho )
을지대학교 의과대학 병리학교실
김경희 ( Kim Kyung-Hee )
을지대학교 의과대학 병리학교실
강동욱 ( Kang Dong-Wook )
을지대학교 의과대학 병리학교실
박미자 ( Park Mee-Ja )
을지대학교 의과대학 병리학교실
성인옥 ( Seong In-Ock )
을지대학교 의과대학 병리학교실
이성규 ( Lee Seong-Kyu )
을지대학교 의과대학 생화학 분자생물학
백행운 ( Baik Haing-Woon )
을지대학교 의과대학 생화학 분자생물학
김용일 ( Kim Yong-Il )
을지대학교 의과대학 병리학교실
KMID : 0357920060400020137
Abstract
Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract, but this tumor is rarely seen in association with type 1 neurofibromatosis (NF-1). We report here on two cases of multiple GISTs of the small intestine that occurred in NF-1 patients. We also analyzed the mutations of c-kit exons 9, 11, 13 and 17 and the platelet-derived growth factor receptor-alpha (PDGFRA) exons 12 and 18 in two GIST patients. Histologically, the NF-1-associated GISTs were similar to those of non-the NF-1 GISTs, but they characteristically revealed hyperplastic interstitial cells of Cajal around the GISTs. Immunohistochemically, these tumors showed strong co-expressions of CD117 and CD34. The molecular genetic analysis of the GISTs showed that all of the c-kit and PDGFRA exons that were analyzed in the GISTs of the two patients were the wild-type, suggesting a limited role for the c-kit and PDGFRA mutations in the tumorigenesis of NF-1-associated GISTs.
키워드
Gastrointestinal stromal tumor;Neurofibromatosis I;c-kit;PDGFRA
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