Case Report
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World J Gastroenterol. Apr 7, 2012; 18(13): 1545-1551
Published online Apr 7, 2012. doi: 10.3748/wjg.v18.i13.1545
Esophageal combined carcinomas: Immunohoistochemical and molecular genetic studies
Tadashi Terada, Hirotoshi Maruo
Tadashi Terada, Department of Pathology, Shizuoka City Shimizu Hospital, Shizuoka 424-8636, Japan
Hirotoshi Maruo, Department of Surgery, Shizuoka City Shimizu Hospital, Shizuoka 424-8636, Japan
Author contributions: Terada T performed the pathological studies and wrote the manuscript; Maruo H performed the clinical studies and biopsies.
Correspondence to: Tadashi Terada, MD, PhD, Department of Pathology, Shizuoka City Shimizu Hospital, Miyakami 1231 Shimizu-Ku, Shizuoka 424-8636, Japan. piyo0111jp@yahoo.co.jp
Telephone: +81-54-3361111 Fax: +81-54-3361315
Received: January 22, 2011
Revised: April 16, 2011
Accepted: April 23, 2011
Published online: April 7, 2012
Abstract

Primary esophageal combined carcinoma is very rare. The authors herein report 2 cases. Case 1 was a combined squamous cell carcinoma and small cell carcinoma, and case 2 was a combined squamous cell carcinoma, adenocarcinoma, and small cell carcinoma. Case 1 was a 67-year-old man with complaints of dysphagia. Endoscopic examination revealed an ulcerated tumor in the middle esophagus, and 6 biopsies were obtained. All 6 biopsies revealed a mixture of squamous cell carcinoma and small cell carcinoma. Both elements were positive for cytokeratin, epithelial membrane antigen, and p53 protein, and had high Ki-67 labeling. The small cell carcinoma element was positive for synaptophysin, CD56, KIT, and platelet-derived growth factor-α (PDGFRA), while the squamous cell carcinoma element was not. Genetically, no mutations of KIT and PDGFRA were recognized. The patient died of systemic carcinomatosis 15 mo after presentation. Case 2 was a 74-year-old man presenting with dysplasia. Endoscopy revealed a polypoid tumor in the distal esophagus. Seven biopsies were taken, and 6 showed a mixture of squamous cell carcinoma, small cell carcinoma, and adenocarcinoma. The 3 elements were positive for cytokeratins, epithelial membrane antigen, and p53 protein, and had high Ki-67 labeling. The adenocarcinoma element was positive for mucins. The small cell carcinoma element was positive for CD56, synaptophysin, KIT, and PDGFRA, but the other elements were not. Mutations of KIT and PDGFRA were not recognized. The patient died of systemic carcinomatosis 7 mo after presentation. These combined carcinomas may arise from enterochromaffin cells or totipotential stem cell in the esophagus or transdifferentiation of one element to another. A review of the literature was performed.

Keywords: Esophagus; Combined carcinoma; Histopathology; Immunohistochemistry; Molecular genetics