S3569 Case Report of Esophageal Squamous Cell Carcinoma Presenting as Gastroesophageal Reflux Disease: An Unusual Presentation

Abstract

Introduction: Esophageal cancer ranks high among cancer-related mortality rates in the world with a 5-year survival rate of 20%. Though surveillance guidelines exist for esophageal adenocarcinoma (EA) in the Western world, guidelines for surveillance of esophageal squamous cell carcinoma (ESCC) are unclear, especially in the low-risk countries due to the low prevalence of the disease. We present a case of ESCC with an unusual presentation in the setting of gastroesophageal reflux disease (GERD). Case Description/Methods: A 47-year-old female with a history of GERD, gastritis with intestinal metaplasia and vulvar carcinoma status post resection and radiation therapy 12 year ago was being followed in Gastroenterology clinic. GERD was managed with a proton pump inhibitor and she underwent an EGD 17 months prior to the presentation which showed normal esophageal mucosa. The patient presented with 6 months of progressive dysphagia to solids followed by liquids and a 5-pound weight loss. She denied any other alarm symptoms such as change in bowel habits, blood in stool or hematemesis, but family history was notable for esophageal cancer in the patient's father, and gastric cancer in the paternal uncle. EGD revealed a large fungating mid esophageal mass partially obstructing the esophagus (Figure 1). It was confirmed to be stage III invasive ESCC on biopsy. Biopsy staining was negative for HPV. Patient was started on Cisplatin and 5-fluorouracil (5-FU) therapy and was noted to have symptom resolution. Discussion: Though the incidence of ESCC is trending down in the United States, it contributes to high cancer-related mortality burden. This case report showcases rapid progression and an unusual presentation of ESCC in a patient with GERD – a risk factor for EA, despite normal esophageal mucosa seen on EGD 17 months prior. The patient also had history of vulvar squamous cell carcinoma and a family history of esophageal malignancy in a first degree relative. Currently, the evidence linking HPV to esophageal cancer remains controversial. Similarly, data about genetic predisposition in the development of ESCC is also conflicting. This raises important questions regarding the association of vulvar cancer with esophageal cancers and magnitude of genetic risk among patients with family history of cancers of the digestive tract.Figure 1.: A Large Mid-esophageal Fungating Mass Partially Obstructing The Lumen