S3447 Atypical Symptomatology, a Call to Keep an Open Differential List

Abstract

INTRODUCTION: Appropriate suspicion with atypical presentations can serve as a screen for dangerous conditions, especially important as these conditions may have grim outcomes. This case depicts a primary mediastinal choriocarcinoma (CCA) in a male; a rare tumor often with complicated diagnosis and treatment. According to reported cases, these neoplasms often metastasize early and can be rapidly fatal even with treatment. Of note, this malignancy was detected via thorough history taking at a gastrointestinal (GI) clinic visit. We would like to highlight the importance of maintaining awareness for rarer entities while pursuing the more common differentials. CASE DESCRIPTION/METHODS: The patient is a 42 year old male who was referred to a GI clinic for symptoms including epigastric pain and hematemesis with positive H. pylori stool antigen and initiation on quadruple therapy for the H. pylori. At the GI appointment, he reported persistent symptoms despite treatment. Upon further questioning, he also reported recent weight loss and clarified he had hemoptysis rather than hematemesis. In response to his atypical symptoms, a more ominous disease process was considered with ordering of a chest x-ray. Unfortunately, this imaging demonstrated a mediastinal lung mass with metastases. The patient was referred for further evaluation at an emergency department. A CT scan confirmed the findings and alpha-fetoprotein and beta-HCG levels were markedly elevated suggesting CCA. Testicular ultrasound did not show a primary testicular mass. Due to long term GI symptoms, the patient had endoscopic studies performed with benign results. Initial biopsies of a pulmonary mass were read as squamous cell carcinoma but repeat biopsies yielded results consistent with stage IIIC CCA. Chemotherapy was promptly initiated and now four months post-initiation of treatment, he has had improvement in symptoms, labs, and imaging markers. DISCUSSION: Primary mediastinal CCAs are exceedingly rare tumors often with poor prognoses. In this case, the malignancy was detected by a gastroenterologist recognizing an atypical presentation. The patient is now showing improved symptoms after treatment initiation. The patient could have had rapid deterioration and an ultimately fatal outcome in these past few months following had his atypical symptoms not elicited suspicion with further investigation. This report is meant to serve as a call to action to keep a broad differential when evaluating patients keeping in mind that while rare, zebras do exist.