Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I.
Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I.
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DOI：
10.1007/s00535-015-1132-6
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发表时间：
2016-06
影响因子：
6.3
通讯作者：
Wataya-Kaneda M
中科院分区：
文献类型：
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作者：
Nishida T;Tsujimoto M;Takahashi T;Hirota S;Blay JY;Wataya-Kaneda M
神经纤维瘤病I型(NF1)使患者易患各种肿瘤，包括胃肠道间质瘤(GIST)。对于NF1患者发生GIST的风险或NF1-GIST的临床病理特征和预后，我们知之甚少。我们在2003至2012年间对成年NF1患者进行了多探测器计算机体层摄影筛查。对2001年至2010年间日本32家医院手术治疗的散发性胃肠道间质瘤的临床病理资料进行了回顾性研究。CT筛查确定了95例NF1患者中6例GIST患者，提示NF1患者中GIST的患病率约为6.3/100。6例NF1患者均表现为邻近小肠Cajal间质细胞增生。NF1-GIST可能占原发性散发性GIST的1.1-1.3%，表现为小肠多发性肿瘤，核分裂活性低，无KIT或PDGFRA突变。NF1患者和非NF1患者在手术切除GIST后复发和死亡的风险非常相似。NF1患者易发生小肠GIST，表现为无KIT和PDGFRA突变的多发性GIST。NF1-GISTS患者的预后与传统GIST患者相似。本文的在线版本(doi：10.1007/s00535-0151132-6)包含补充材料，可供授权用户使用。
Neurofibromatosis type I (NF1) predisposes patients to various neoplasias, including gastrointestinal stromal tumors (GISTs). Little is known about the risk of developing GISTs for NF1 patients or the clinicopathologic features and prognosis of NF1-GIST. We conducted a multi-detector computed tomography screen for adult NF1 patients between 2003 and 2012. Clinicopathologic data of sporadic GISTs from patients who underwent surgery between 2001 and 2010 were retrospectively collected from 32 hospitals in Japan. CT screening identified 6 GIST patients from the 95 NF1 patients screened, suggesting that the prevalence rate of GISTs was approximately 6.3/100 in NF1 patients. All 6 NF1 patients exhibited hyperplasia of the interstitial cells of Cajal in the adjoining small intestine. NF1-GISTs may account for 1.1–1.3 % of primary sporadic GISTs and present as multiple tumors in the small intestine, with low mitotic activity and no KIT or PDGFRA mutations. The risk of recurrence and mortality is very similar between NF1 and non-NF1 patients after surgical resection of GISTs. NF1 patients may be predisposed to developing small intestinal GISTs, which may appear as multiple GISTs without KIT and PDGFRA mutations. The prognosis of patients with NF1-GISTs is similar to patients with conventional GISTs. The online version of this article (doi:10.1007/s00535-015-1132-6) contains supplementary material, which is available to authorized users.