Widespread choriocarcinoma metastases from de-differentiated gastro-esophageal junction primary adenocarcinoma: A case report with literature review

BACKGROUND: Non-gestational choriocarcinomas represent a small subset of germ cell tumors. The majority of non-gestational choriocarcinomas arise from the gynecologic tract. In rare cases, they can originate from other sites, and very few such cases have been reported in peer-reviewed literature. We add to this small collection with an interesting case of non-gestational choriocarcinoma arising from a primary gastrointestinal adenocarcinoma. CASE PRESENTATION: A 62-year-old female presented to the emergency department with ocular hemorrhage. Originally thought to have melanoma, full-body computed tomography (CT) revealed widespread metastases including a 3 cm hemorrhagic brain mass, hepatic metastases, and a mass at the gastro-esophageal (GE) junction. Pathology of the intracranial mass revealed a malignant neoplasm consistent with choriocarcinoma. Recent dilation and curettage (D&C) were negative for malignancy. Esophagogastroduodenoscopy (EGD) biopsy of the GE junction mass showed poorly differentiated adenocarcinoma, likely the primary lesion, while the liver biopsy matched the β-hCG staining pattern as seen in the brain. CONCLUSIONS: Choriocarcinomas can rarely originate outside of the female reproductive tract (non-gestational, primary choriocarcinomas). In the infrequent cases where a gestational origin is clinically unlikely, the differential diagnosis includes a non-gestational primary choriocarcinoma and choriocarcinomatous differentiation in another primary malignancy. Careful correlation with imaging and clinico-pathologic studies is paramount to determining their origin and guiding further clinical treatment.