Hepatic Yolk Sac Tumor: A Systematic Review of Presentation, Diagnosis, and Treatment

Primary hepatic yolk sac tumor (HYST) is a rare, extragonadal germ cell neoplasm that arises in hepatic tissue. This review aims to examine clinical features, diagnostic workup, and medical and surgical interventions in patients diagnosed with primary HYST.

A literature search was performed using PubMed from 1950 to June 2024 using the filters English language and full text along with keywords "Yolk sac tumor of the liver," "Endodermal Sinus tumor of liver," "Hepatic Yolk sac tumor," and "Hepatic Endodermal sinus tumor."

Our results examined 20 patients ranging from age 15 months to 64 years. The cases included 14 female and 6 male patients. The most common presenting symptom was abdominal pain in adults and abdominal distention in children. Upon histologic evaluation, Schiller-Duval bodies were seen in the majority of examined tumors. Commonly noted markers included alpha fetal protein, cytokeratin AE1/AE3, alpha-1 anti-trypsin, placental alkaline phosphatase, SALL4, and periodic acid-Schiff. Treatment options included chemotherapy, surgery, transplant, and trans-arterial chemoembolization.

In this review, we discuss clinical signs of primary HYST. We highlight the importance of Schiller-Duval bodies on histology, as well as new markers in an attempt to aid in making a diagnosis of HYST.