Azizullah Beran, MD1, Mohammed Mhanna, MD, MPH1, Wasef Sayeh, MD1, Ziad Abuhelwa, MD2, Dipen Patel, MD1, Sudheer Dhoop, MD1, Ragheb Assaly, MD2 1University of Toledo, Toledo, OH; 2The University of Toledo, Toledo, OH
Introduction: Extra-gonadal germ cell tumors (EGCTs) usually arise from midline structures such as the retroperitoneum, mediastinum, and sacrococcygeal region. EGCTs originating from the gastrointestinal system such as the stomach and esophagus are rarely reported. Very few cases of extra-gonadal choriocarcinoma arising from the esophagus have been reported in the literature. However, no reported case of primary esophageal yolk sac tumor (YST) has been published yet in the literature. Herein, we report a rare case of a metastasized primary esophageal YST that presented with dysphagia.
Case Description/Methods: A 62-year-old male with a past medical history of diabetes mellitus and hypertension presented with difficulty swallowing and feeling of food stuck in the middle of his chest for two months. There were associated right upper-quadrant abdominal pain, early satiety, and weight loss (25 pounds) in the last three months. Abdominal CT demonstrated abnormal thickening in the distal esophagus and metastatic disease in the liver adjacent to the distal esophagus. Biopsy of the liver lesions showed poorly differentiated carcinoma with features consistent with YST (positive isochromosome 12p FISH). EGD showed partially obstructing tumor in the lower third of the esophagus (Figure 1A). Biopsy of the esophageal mass also showed findings consistent with the YST. PET scan showed increased activity in the lower esophagus but did not identify testicular activity (Figure 1B). Blood tests revealed AST 51, ALT 49, ALP 358, total bilirubin 0.5, AFP of 12,752, HCG of 11, and LDH of 1039. Brain MRI and testicular ultrasound findings were unremarkable. Eventually, he was diagnosed with stage IIIc M1b (liver metastasis) primary esophageal YSK. The patient was started on a chemotherapy regimen with etoposide, ifosfamide, and cisplatin. However, he died because of his esophageal yolk sac tumor 3 months after starting the chemotherapy.
Discussion: Primary gastrointestinal germ cell tumors have been very rarely reported in the literature. To the best of our knowledge, our case is the first extra-gonadal yolk sac tumor that originated from the esophagus and metastasized to the liver. Our case adds to the literature and provides an example of an unusual location and clinical presentation of an extra-gonadal YSK. EGCTs should be kept in mind in the differential diagnosis of middle-aged male patients with malignant evidence presenting with dysphagia and esophageal mass.
Figure: Figure 1
Disclosures:
Azizullah Beran indicated no relevant financial relationships.
Mohammed Mhanna indicated no relevant financial relationships.
Wasef Sayeh indicated no relevant financial relationships.
Ziad Abuhelwa indicated no relevant financial relationships.
Dipen Patel indicated no relevant financial relationships.
Sudheer Dhoop indicated no relevant financial relationships.
Ragheb Assaly indicated no relevant financial relationships.
Azizullah Beran, MD1, Mohammed Mhanna, MD, MPH1, Wasef Sayeh, MD1, Ziad Abuhelwa, MD2, Dipen Patel, MD1, Sudheer Dhoop, MD1, Ragheb Assaly, MD2. E0250 - Primary Esophageal Extra-Gonadal Yolk Sac Tumor Metastasized to the Liver, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.