Extragonadal germ cell tumors: a review with emphasis on pathologic features, clinical prognostic variables, and differential diagnostic considerations

Abstract

Extragonadal germ cell tumors (GCTs) are relatively uncommon, but represent 1% to 5% of all GCTs. Their morphology varies widely and includes mature teratoma, immature teratoma, seminoma, yolk sac tumor, embryonal carcinoma, choriocarcinoma, and mixed GCTs. Noncentral nervous system extragonadal GCTs are found in a variety of anatomic locations, but most commonly affect the mediastinum and sacrococcygeal region. Predicting behavior in these tumors can be confusing because it is based on a combination of varying factors including patient age, histologic subtype, anatomic site, and clinical stage. This review attempts to dissect these issues by separating the discussion into 3 age groups: neonatal (congenital), children (prepubertal), and adult (postpubertal). Within each individual age group, we cover the significance of anatomic site, morphology, and staging parameters. In addition, we discuss the spectrum of associated secondary malignancies and their impact on patient outcome. Finally, we provide a detailed survey of differential diagnostic considerations grouped by anatomic site.