Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease)
Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease)
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DOI：
10.1097/01.pas.0000163359.32734.f9
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发表时间：
2005-06-01
影响因子：
5.6
通讯作者：
Fukayama, M
中科院分区：
文献类型：
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作者：
Takazawa, Y;Sakurai, S;Fukayama, M
胃肠道间质瘤（GIST）是1型神经纤维瘤病（von Recklinghausen's disease, NF1）的一种胃肠道并发症，是肠道神经组织及其支持结构的增生性病变。在本研究中，我们分析了来自9例NF1患者的36例gist的组织学和免疫组织化学特征，以及e-kit和PDGFRA基因突变。值得注意的是，多发胃肠道间质瘤优先发生在小肠。nf1相关的gist的组织学特征与非nf1相关的gist几乎相似，但其特点是大多数nf1相关的gist含有skeinoid纤维。33例gist（92%）对KIT表现出免疫反应性，23例肿瘤（64%）对S-100蛋白表现出弥漫性或嵌合样免疫反应性。部分gist周围可见增生性病变，可能为Cajal间质细胞增生。扩增c-kit基因外显子9、11、13、17和PDGFRA基因外显子12、18，并直接测序。c-kit基因点突变和PDGFRA基因点突变分别仅在3例（8%）和2例（6%）肿瘤中发现。NF1相关gist表现为Cajal细胞和Schwann细胞间质细胞的双重分化，其发展与NF1患者胃肠道肌肠神经结构密切相关。c-kit和PDGFRA基因的点突变可能在nf1相关性gist的肿瘤发生中发挥有限的作用。
Gastrointestinal stromal tumor (GIST), as well as the hyperplastic lesions of intestinal neural tissue and its supporting structures, is a gastrointestinal complication of type 1 neurofibromatosis (NF1) (von Recklinghausen's disease). In the present study, we analyzed the histologic and immunohistochemical features, and the e-kit and PDGFRA gene mutations of 36 GISTs derived from 9 NF1 patients. Distinctively, multiple GISTs arose preferentially in the small intestine. The histologic features of NF1-associated GISTs are almost similar to those of non-NF1 GISTs, but characteristically most of the NF1-associated GISTs contained skeinoid fibers. Thirty-three GISTs (92%) showed immunoreactivity for KIT, and 23 tumors (64%) showed diffuse or mosaic-like immunoreactivity for S-100 protein. Hyperplasic lesions, which may be the hyperplasia of interstitial cells of Cajal, were observed around some GISTs. Exons 9, 11, 13, and 17 of the c-kit gene and exons 12 and 18 of the PDGFRA gene were amplified and directly sequenced. Point mutations of c-kit gene or PDGFRA gene were identified only in three (8%) and two (6%) tumors, respectively. NF1-associated GISTs, showing the dual differentiation of interstitial cells of Cajal and Schwann cells, develop in close association with the myenteric nerve structure of gastrointestinal tract of NF1 patients. The point mutations of c-kit and PDGFRA gene may play a limited role in the tumorigenesis of NF1-associated GISTs.