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KMID : 0357920060400020137
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Korean Journal of Pathology
2006 Volume.40 No. 2 p.137 ~ p.141
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Gastrointestinal Stromal Tumors associated with Neurofibromatosis Type I - A Report of Two Cases -
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Kim Ju-Hun
Kim Seong-Ho
Kim Kyung-Hee
Kang Dong-Wook
Park Mee-Ja
Seong In-Ock
Lee Seong-Kyu
Baik Haing-Woon
Kim Yong-Il
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Abstract
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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.
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KEYWORD
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Gastrointestinal stromal tumor, Neurofibromatosis I, c-kit, PDGFRA
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