다발전이성 위장관 간질종양을 동반한 제 1형 신경섬유종증 1예
A Case of Type 1 Neurofibromatosis Associated with Multiple Metastatic Gastrointestinal Stromal Tumors
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Type 1 neurofibromatosis (von Recklinghausen’s disease, NF-1) is an autosomal-dominant neurocutaneousdisorder characterized by systemic cafe’-au-lait spots, multiple cutaneous neurofibromas, axillary or inguinal freckling, and Lisch nodules (pigmented iris hamartomas). Approximately 10-25% of NF1 patients have gastrointestinal neoplasms. Gastrointestinal stromal tumor (GIST) in patients with neurofibromatosis is most commonly found in the small bowel and the stomach, and approximately 60% of such patients have multiple tumors or multiple tumor sites. Although, the increased incidence of GIST in patients with neurofibromatosis is well documented in pathology literature in English, but has rarely been documented in Korea. Here, we report a case of multiple GISTs in a 48-year-old woman accompanied by NF1. She was admitted to Yeungnam University Hospital with complaints of melena and dyspnea. A contrast-enhanced computed tomography (CT) scan revealed that multiple soft tissue masses were occupying the entire peritoneal cavity. An ultrasonogram- guided biopsy was performed and the tumors were found to have been composed of tumor cells that were positive for c-kit protein. The patient was put on Imatinib mesylate treatment, and further follow-up will be carried out.
Abstract
Type 1 neurofibromatosis (von Recklinghausen’s disease, NF-1) is an autosomal-dominant neurocutaneousdisorder characterized by systemic cafe’-au-lait spots, multiple cutaneous neurofibromas, axillary or inguinal freckling, and Lisch nodules (pigmented iris hamartomas). Approximately 10-25% of NF1 patients have gastrointestinal neoplasms. Gastrointestinal stromal tumor (GIST) in patients with neurofibromatosis is most commonly found in the small bowel and the stomach, and approximately 60% of such patients have multiple tumors or multiple tumor sites. Although, the increased incidence of GIST in patients with neurofibromatosis is well documented in pathology literature in English, but has rarely been documented in Korea. Here, we report a case of multiple GISTs in a 48-year-old woman accompanied by NF1. She was admitted to Yeungnam University Hospital with complaints of melena and dyspnea. A contrast-enhanced computed tomography (CT) scan revealed that multiple soft tissue masses were occupying the entire peritoneal cavity. An ultrasonogram- guided biopsy was performed and the tumors were found to have been composed of tumor cells that were positive for c-kit protein. The patient was put on Imatinib mesylate treatment, and further follow-up will be carried out.
참고문헌 (11)
- Sang Hoon Han, "Malignant Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis type 1", The Korean Journal of Internal Medicine, 22(1), pp.21~23 (2007), 대한내과학회
- Levy AD, "Gastrointestinal stromal tumors in patients with neurofibromatosis:imaging features with clinicopathologic correlation", AJR Am J Roentgenol, 183, pp.1629~1636 (2004)
- 서병선, "제1형 신경섬유종증 환자에서 십이지장 구부의 점막하 신경섬유성 증식에 의한 위배출 장애", 대한외과학회지, 79(6), pp.31~36 (2010), 대한외과학회
- 서승오, "제1형 신경섬유종증에 동반된 위장관간질종양에 의한 십이지장출혈", Clinical Endoscopy, 35(4), pp.254~257 (2007), 대한소화기내시경학회
- Yantiss RK, "Multiple gastrointestinal stromal tumors in type I neurofibromatosis:a pathologic and molecular study", Mod Pathol, 18, pp.475~484 (2005)
- Basile U, "Gastrointestinal and retroperitoneal manifestations of type 1 neurofibromatosis", J Gastrointest Surg, 14, pp.186~194 (2010)
- Stamatakos M, "Gastrointestinal stromal tumor", World J Surg Oncol, 7, pp.61~ (2009)
- Kim TW, "Kinase mutations and efficacy of imatinib in Korean patients with advanced gastrointestinal stromal tumors", Oncologist, 14, pp.540~547 (2009)
- Lee JL, "Response to imatinib in KIT- and PDGFRA-wild type gastrointestinal stromal associated with neurofibromatosis type 1", Dig Dis Sci, 51, pp.1043~1046 (2006)
- 남궁환, "Gastrointestinal stromal tumor with KIT mutation in neurofibromatosis type 1", 대한외과학회지, 81(4), pp.276~280 (2011), 대한외과학회
- Heinrich MC, "Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor", J Clin Oncol, 21, pp.4342~4349 (2003)