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Gastrointestinal stromal tumors are the most common subset of mesenchymal tumors that arise from the gastrointestinal tract. They most commonly arise in the stomach, followed by the small bowel and, rarely, the rectum, esophagus and colon. Gastrointestinal stromal tumors and the specific c-kit protein (CD117)-positive mesenchymal tumors, have been sporadically reported in the rectum. We report here on a 12-year-old boy who underwent low anterior resection of huge gastrointestinal stromal tumor of the rectum. The diagnosis was confirmed by immunohistochemical staining of the tumor. The specimen was revealed to be a polypoid fungating tumor that, measured 6.0×6.0 cm in size, which consisted histologically of spindle-shaped cells. The tumor cells were positive for c-kit, vimentin, S-100, desmin, and SMA, although the results of the CD34 test were negative. In general, Gastrointestinal stromal tumors of the rectum predominantly occur between the sixth and seventh decades and they are rarely seen in individuals less than 40 years of age. To the best of our knowledge, our case is the youngest reported patient in the English literature who had as gastrointestinal stromal tumor of the rectum. (J Korean Surg Soc 2006;71:161-165)
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