Introduction: Neuroendocrine carcinoma (NEC) of the esophagus is a rare and highly aggressive disease with a reported incidence between 0.4% and 2% among all esophageal malignancies. The small cell subtype comprises > 95% of cases. Achalasia is a well-known condition associated with > 50 times higher risk of presenting with esophageal cancer than the general population. We present a novel case of small-cell NEC of the esophagus in a patient with longstanding achalasia who was treated using chemotherapy alone.
Case Description/Methods: An 81-year-old female with a history of longstanding achalasia presented for evaluation of progressive solid-food dysphagia for two months. In addition to abnormally dilated distal esophagus consistent with achalasia, EGD showed a partially obstructive fungating mass in the mid-esophagus (Figure 1.A). Mucosal biopsies demonstrated neoplastic cells with necrosis. Immunohistochemistry was positive for CK7, chromogranin, synaptophysin, CD 56, and TTF1 (patchy) with a very high Ki-67 proliferation index (approaching 90-100%); and negative for other markers including P40, CK5/6, CK20, CDX-2. The overall findings were consistent with high-grade neuroendocrine tumor, a small cell subtype. A Chest CT scan revealed dilated distal esophagus with mass thickening along the left lateral side of the esophagus with an extension outside the esophagus along the left side of the trachea. The patient received eight cycles of platinum plus etoposide chemotherapy. Four months later, the PET scan showed no evidence of hypermetabolic activity. The repeat endoscopy showed macroscopic resolution of the tumor (Figure 1.B), with histology showing some foci of high-grade dysplasia. Endosonography showed an esophageal wall thickness of 2.5 mm post-treatment (Figure 1.C). The patient’s dysphagia resolved completely, and she continued with her lifelong dietary modifications for the achalasia disease.
Discussion: Neuroendocrine carcinoma (NEC) of the esophagus is rare. The therapeutic strategy has not been well defined due to the small number of cases reported in the literature. Achalasia is associated with an increased risk for malignancy, usually a squamous cell type. To our knowledge, small cell NEC in the setting of achalasia has not been reported previously in the literature. Due to a paucity of cases of esophageal NEC, more studies are needed to understand the biological features of this aggressive cancer and its diagnostic and therapeutic approaches.
