Small cell neuroendocrine carcinoma of the esophagus: report of 6 cases with immunohistochemical and molecular genetic analysis of KIT and PDGFRA
ABSTRACT Small cell neuroendocrine carcinoma of the esophagus (SCNECE) is a very rare, but a highly aggressive tumor. Six cases of SCNECE (0.25%) were found in the 2,438 archival pathologic specimens of esophagus in the last 20 years in our pathology laboratory. The ages ranged from 62 years to 81 years with a mean of 73 years. All cases were male. The presenting symptoms were dysphagia in 5 cases and vomiting in 1 case. The locations were lower esophagus in 4 cases and middle esophagus in 2 cases. Endoscopically, the tumor was ulcerated in 3 cases and polypoid in 3 cases. All the 6 patients were treated by chemoradiation therapy, and the survival ranged from 6 months to 25 months with a mean of 13 months. Histologically, 5 cases were pure SCNECE, 1 case showed triplicate differentiation into small cell carcinoma, adenocarcinoma and squamous cell carcinoma. Immunohistochemically, each SCNECE showed at least one of the neurocrine antigens. Cytokeratins were positive in 6/6, vimentin 0/6, synaptophysin in 4/6, CD56 4/6, neuron-specific enolase 3/6, chromogranin 0/6, p53 protein in 6/6, KIT in 6/6, and platelet-derived growth factor receptor-α (PDGFRA) in 6/6. Ki-67 labeling ranged from 56% to 100% with a mean of 79%. A retrospective genetic analysis using PCR-direct sequencing method in paraffin sections identified no mutations of KIT (exons 9, 11, 13 and 17) and PDGFRA (exons 12 and 18) genes in all the 6 cases.
- Journal of Gastrointestinal Cancer 05/2013; 45(3). DOI:10.1007/s12029-013-9482-x · 0.38 Impact Factor
- Journal of Gastrointestinal Cancer 02/2014; 45(S1). DOI:10.1007/s12029-014-9588-9 · 0.38 Impact Factor
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ABSTRACT: Background Neuroendocrine tumors (NETs) of the esophagus are extremely rare, and few cases have been reported worldwide. Thus, a comprehensive nationwide study is needed to understand the characteristics of and treatment strategy for esophageal NETs. Methods We collected data on esophageal NET patients from 25 hospitals in Korea from 2002–2012. The incidence, location, clinical symptoms, histopathology, treatment response, and the biochemical, radiologic and endoscopic characteristics of esophageal NETs were surveyed. Results Among 2,037 NETs arising in different gastrointestinal sites, esophageal NETs were found in 26 cases (1.3%). The mean patient age was 60.12 ± 9.30 years with a 4:1 male predominance. In endoscopic findings, 76.9% (20/26) of NETs were located in the lower third of the esophagus and the mean size was 2.34 ± 1.63 cm. At diagnosis, more than half the patients (15/26, 57.7%) had regional lymph node metastasis or widespread metastasis. Endoscopic resection was conducted in three cases, and in all three of them, lymph node metastasis was not found and tumor size was below 1.0 cm. All tumors were completely removable through endoscopic procedures and there was no recurrence during the follow-up period. Eighteen other patients received an operation, chemotherapy or both. Among them, nine patients (50.0%) expired because of the progression of their cancer or post-operative complications. In Kaplan-Meier survival analysis, only tumor size (more than 2.0 cm) showed prognostic significance (P = 0.045). Conclusions Despite the general assumption that gastrointestinal NETs are benign and slow-growing tumors, the prognosis of advanced esophageal NETs is not favorable.BMC Cancer 08/2014; 14(1):569. DOI:10.1186/1471-2407-14-569 · 3.32 Impact Factor