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JYMS : Journal of Yeungnam Medical Science

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HOME > J Yeungnam Med Sci > Volume 30(2); 2013 > Article
Case Report A Case of Type 1 Neurofibromatosis Associated with Multiple Metastatic Gastrointestinal Stromal Tumors.
Hyo Jin Jang, Sung Ae Koh, Da Eun Jeong, Ji Yoon Jung, Eun Ju Goo, Kyoung Hee Lee, Joon Hyuk Choi, Myung Soo Hyun
Journal of Yeungnam Medical Science 2013;30(2):105-108
Published online: December 31, 2013
1Department of Internal Medicine, College of Medicine, Yeungnam University, Daegu, Korea.
2Department of Pathology, College of Medicine, Yeungnam University, Daegu, Korea.
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Type 1 neurofibromatosis (von Recklinghausen's disease, NF-1) is an autosomal-dominant neurocutaneous-disorder 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.

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