A CASE OF JEJUNAL GASTROINTESTINAL STROMAL TUMOR(GIST) ASSOCIATED WITH VON RECKLINGHAUSEN'S DISEASE

Abstract

We report a case of jejunal GIST with von Recklinghausen's disease. A 35-year-old womanwas admitted to our hospital with symptoms of melena and exertional dyspnea. She waspointed urith severe anemia on hematological examination. She had had multiple cafe au laitspots and papules in the whole body since her childhood. The shin lesion was neurofibromatosison histological diagnosis. Fluoroscopic and endoscopic examinations of the small intestinerevealed a submucosal jejunal tumor, 3×2cm in size, which located 7cm anal distal to Treitz'sligament. Partial resection of the jejunum was performed. Histologically, the tumor wascomposed of uniform spindle-shaped cells with fascicular pattern and no mitotic figures. While, on immunohistochernistry, tumor ce11s were positive for CD34 and c-kit, and negative for α-SNXA and Sloo protein. Therefore, the final histological diagnosis was an uncommitted type ofFIST with uncertain malignant potential. Most of non-epitherial tumors associated with vonRecklinghausen's disease are neurogenic tumors. Gn the Other hand, GIST is too rare as thecomplication of von Recklinghausen's disease. Only 10 GIST cases related to von Recklinghausen's disease has been reported in Japan including this one. However, this clinical experiences emphasize that GIST of the small intestine should be considered as an important possiblecomplication of von Recklinghausen's disease patients with anemia and/or melena.