CASE REPORT
A Case of von Recklinghausen's Disease with Gastrointestinal Stromal Tumor of Duodenum and Ascending Colon Carcinoma
Toru Yoshida, Shin Obara, Yasunao Ishiguro, Hidehiko Endo, Takashi Sato1) and Tamotsu Sugai2)
Department of Surgery, Iwate Prefectural Kamaishi Hospital
Department of Pathology1) and Department of Diagnostic Pathology2), Iwate Medical University, School of Medicine
A 57-year-old man with von Recklinghausen's disease (VRD) admitted for occult blood, examination was found in colonoscopy to have an ascending colon tumor, comfirmed to be adenocarcinoma by the biopsy spesimen. Abdominal computed tomography (CT) showed a solid tumor on the third portion of the duodenum, necessitating partial duodenal resection and right hemicolectomy. The duodenal tumor was immunohistochemically positive for KIT and CD34, but genomic c-kit gene analysis showed no apparent mutations. These results suggest that the pathogenesis of gastrointestinal stromal tumors (GIST) in VRD patients differs from that in non-VRD patients. Although VRD is often complicated by neurogenic tumors, GIST has been recently reported to occasionally occur in VRD patients, who should therefore be systemically examined with special attention paid to the gastrointestinal tract.
Key words
gastrointestinal tumor (GIST), c-kit gene mutation, von Recklinghausen's disease (VRD)
Jpn J Gastroenterol Surg 43: 241-246, 2010
Reprint requests
Toru Yoshida Department of Surgery, Iwate Prefectural Kamaishi Hospital
10-483-6 Kashi-cho, Kamaishi, 026-8550 JAPAN
Accepted
July 22, 2009
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