1型神经纤维瘤病患者中出现急性出血的c-KIT阳性胃肠道间质瘤：病例报告
c-KIT positive Gastrointestinal Stromal Tumor presenting with acute bleeding in a patient with neurofibromatosis type 1: a case report.
作者信息
Aboutaleb Esam, Kothari Manish, Damrah Osama, Canelo Roben
机构信息
Imperial College Healthcare Trust, Hammersmith Hospital, Department of Hepatopancreatic and Biliary Surgery, Du Cane Road, London, W12 0HS, UK.
出版信息
Int Semin Surg Oncol. 2009 Oct 23;6:17. doi: 10.1186/1477-7800-6-17.
BACKGROUND
Gastrointestinal stromal tumours are rare (GIST). However, the incidence of GIST among neurofibromatosis type 1 (NF-1) patients is approximately 3.9-25%. GIST can present clinically in different ways such as abdominal pain, gastrointestinal bleeding and obstruction.
CASE REPORT
We present 51 year female patient admitted with Background of neurofibromatosis type 1 admitted with melena. OGD has been done and showed duodenitis with large volume fresh blood in distal duodenum but no obvious bleeding point. Exploratory laparotomy revealed smooth nodular masses on the serosal surface of jejunum. Small bowel resection and side-to-side anastomosis were performed. Histopathoogical examination revealed small bowel gasrointestinal stromal tumour with low risk malignant potential.
CONCLUSION
The incidence of GIST among neurofibromatosis type 1 (NF-1) patients is not uncommon and we should pay attention to gastrointestinal manifestation in such patients.
背景
胃肠道间质瘤（GIST）较为罕见。然而，1型神经纤维瘤病（NF-1）患者中GIST的发病率约为3.9%-25%。GIST临床上可表现为不同形式，如腹痛、胃肠道出血和梗阻。
病例报告
我们报告一名51岁女性患者，有1型神经纤维瘤病病史，因黑便入院。已进行上消化道内镜检查，显示十二指肠炎症，十二指肠远端有大量新鲜血液，但无明显出血点。剖腹探查发现空肠浆膜表面有光滑的结节状肿块。进行了小肠切除和端侧吻合术。组织病理学检查显示为具有低风险恶性潜能的小肠胃肠道间质瘤。
结论
1型神经纤维瘤病（NF-1）患者中GIST的发病率并不罕见，我们应关注此类患者的胃肠道表现。
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