Neurofibromatosis and Esophageal Adenocarcinoma: A Single Case Study

Abstract

Purpose: Introduction: Neurofibromatosis type-1, also known as von Recklinghausen's disease, is a common autosomal dominant condition manifesting in approximately one in 3000 births. It is well documented that neoplasms arise in up to 25 percent of these patients and are typically of neural-crest origin, including carcinoids, neurofibromas, and gangliomas. However, the occurrence of neurofibromatosis with esophageal adenocarcinoma is exceedingly rare and has not been documented in over twenty years. Case Report: We present a unique case of neurofibromatosis type-I and esophageal adenocarcinoma in a 62-year-old Caucasian male admitted with a three-month history of nausea, vomiting, and seventy-pound weight loss. Risk factors include male gender and positive smoking history of a half a pack per day for forty years. Comorbidities included, but were not limited to pulmonary neurofibromas, emphysema, bilateral nonmalignant adrenal lesions, and hyperplastic thyroid nodules. On admission, CT scan of the abdomen showed distal esophageal thickening concerning for malignancy. EGD revealed a six-centimeter distal esophageal mass obstructing the lumen and extending into the gastroesophageal junction, 32cm from the incisors. The mass had a friable, ulcerated area that was biopsied. Histological findings confirmed moderately differentiated adenocarcinoma. The patient was not a surgical candidate so an esophageal stent and percutaneous endoscopic gastrostomy tube were placed. The patient endured a lengthy and complicated hospital course, culminating with death six weeks after admission. Discussion: Only one case report by Desigan et al from 1985 has documented the presence of esophageal adenocarcinoma in a patient with neurofibromatosis. The coexistence of these two entities is either exceedingly rare or significantly under-reported. Because of the increased incidence of malignancy (including esophageal) in this population, esophageal adenocarcinoma must be considered in the evaluation of nausea, vomiting, and weight loss in patients with neurofibromatosis.