Naima J. Hashi, MD1, David Y. Lo, MD, FACG2 1Mayo Clinic, Rochester, MN; 2Ohio Gastroenterology Group, Inc, and The Ohio State University College of Medicine, Columbus, OH
Introduction: Yolk sac tumors are rare malignant germ cell tumors, which usually occur in the ovaries or testes. However, they can arise anywhere in the abdomen. We present a case of a retroperitoneal yolk sac tumor diagnosed by endoscopic ultrasound (EUS).
Case Description/Methods: A 38-year-old man with a past medical history of hypertension and chronic hepatitis C presented with abdominal pain. He reported progressive abdominal pain over the preceding 2 months, with associated nausea, and unintentional weight loss. Physical exam was notable for right lower quadrant tenderness and a large palpable mass in the periumbilical area. Labs were pertinent for an elevated alpha-fetoprotein of 15,691 ng/mL. Computerized tomography (CT) of his abdomen and pelvis revealed an 18.3 cm necrotic mass within the abdomen centered in the retroperitoneum which was concerning for malignancy (A). Patient underwent upper endoscopy and EUS which showed a large hypoechoic extrinsic mass invading the duodenum (B), and forceps and fine needle biopsies (FNB) were obtained. Pathology of the retroperitoneal mass revealed a yolk sac tumor (C). Patient then underwent bilateral testicular ultrasound, which revealed 3 discrete masses in the right testicle. Before the patient could pursue management of his newly diagnosed metastatic yolk sac tumor he developed septic shock secondary to bowel perforation, and he eventually passed away.
Discussion: Patients with germ cell tumors usually present with a painless mass in the testes. Patients with extragonadal tumors can have symptoms such as vague abdominal pain, abdominal distension, back pain, fatigue, or unintentional weight loss. Mortality is higher in extragonadal disease, and it is imperative to make a diagnosis early. Extragonadal yolk sac tumors in men can be either metastatic or primary. It is important to do a thorough physical exam along with obtaining a testicular ultrasound. EUS is effective at visualizing and biopsying lesions in the gastrointestinal tract, pancreas, mediastinum, and retroperitoneum. EUS FNB has been effective in the diagnosis of retroperitoneal germ cell tumors, but very few case reports exist. Once a diagnosis has been made, treatment usually includes surgery and chemotherapy with cisplatin, etoposide, and bleomycin. One should consider a germ cell tumor in the differential of a retroperitoneal mass.
Figure: Figure 1: Retroperitoneal Yolk Sac tumor. A) CT of abdomen/pelvis demonstrating an 18.3 cm retroperitoneal mass. B) EGD/EUS showing a large extrinsic mass invading the duodenum. C) Pathology of the retroperitoneal mass revealing a yolk sac tumor.
Disclosures:
Naima Hashi indicated no relevant financial relationships.
David Lo indicated no relevant financial relationships.
Naima J. Hashi, MD1, David Y. Lo, MD, FACG2. C0471 - Retroperitoneal Yolk Sac Tumor Diagnosed by Endoscopic Ultrasound, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.
