Case Report
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World J Gastroenterol. Jan 7, 2014; 20(1): 319-322
Published online Jan 7, 2014. doi: 10.3748/wjg.v20.i1.319
Anal canal gastrointestinal stromal tumors: Case report and literature review
Nuno Carvalho, Diogo Albergaria, Rui Lebre, João Giria, Vitor Fernandes, Helena Vidal, Maria José Brito
Nuno Carvalho, Diogo Albergaria, Rui Lebre, João Gíria, Department of General Surgery, Garcia de Orta Hospital, 2801-951 Almada, Portugal
Vitor Fernandes, Department of Gastroenterology, Garcia de Orta Hospital, 2801-951 Almada, Portugal
Helena Vidal, Department of Radiology, Garcia de Orta Hospital, 2801-951 Almada, Portugal
Maria José Brito, Department of Pathology, Garcia de Orta Hospital, 2801-951 Almada, Portugal
Author contributions: Carvalho N, Albergaria D and Lebre R contributed equally to this work; Fernandes V, Vidal H and Brito MJ provided new reagents/analytic tools; Gíria J reviewed this work; Carvalho N wrote the paper.
Correspondence to: Diogo Albergaria, MD, Department of General Surgery, Garcia de Orta Hospital, Av. Torrado da Silva, 2801-951 Almada, Portugal. diogo.albergaria@gmail.com
Telephone: +351-21-2727114 Fax: +351-21-2727114
Received: August 29, 2012
Revised: March 28, 2013
Accepted: April 9, 2013
Published online: January 7, 2014
Processing time: 509 Days and 15.7 Hours
Abstract

Gastrointestinal stromal tumors (GIST) are an uncommon group of tumors of mesenchymal origin. GIST of the anal canal is extremely rare. At present, only 10 cases of c-kit positive anal GIST have been reported in the literature. There is no widely accepted treatment approach for this neoplasia. Literature is sparse on imaging evaluation of anal canal GIST, usually described as a lesion in the intersphincteric space. We describe the case of a 73-year-old man with a mass in the anal canal, and no other symptoms. Endoanal ultrasound and magnetic resonance imaging showed a well circumscribed solid nodule in the intersphincteric space. The patient was treated by local excision. Gross pathological examination showed a 7 cm × 3.5 cm × 3 cm mass, and histological examination showed a proliferation of spindle cells, with prominent nuclear palisading. The mitotic count was of 12 mitoses/50 HPF. The tumor was positive for KIT protein, CD34 and vimentin in the majority of cells, and negative for desmin and S100. A diagnosis of GIST, with high risk aggressive behavior was made. An abdomino-perineal resection was discussed, but refused. The follow-up included clinical evaluation and anal ultrasound. After 5 years the patient is well, with maintained continence and no evidence of local recurrence.

Keywords: Gastrointestinal stromal tumors; Anal canal; Endoanal ultrasound; Magnetic resonance imaging; C-Kit receptor; Local excision

Core tip: Gastrointestinal stromal tumors (GIST) are an uncommon group of tumors of mesenchymal origin. GIST of the anal canal is extremely rare. Here, the authors describe the case of a 73-year-old man with a mass in the anal canal, and no other symptoms. The patient was treated by local excision. An abdomino-perineal resection was discussed, but refused. After 5 years follow-up with clinical evaluation and anal ultrasound, the patient is well, with maintained continence and no evidence of local recurrence.