P0555 - A Rare Case of Primary Germinoma of the Spinal Cord Causing Progressive Dysphagia

Rachel Patel, DO¹, Amanda Jacubowsky, DO², Nicholas Lamparella, DO², Paul Palyca, MD^2
1Lehigh Valley Health Network, Coopersburg, PA; ²Lehigh Valley Health Network, Allentown, PA

Introduction: Primary spinal cord germinomas are an exceedingly rare group of tumors and infrequently arise from the central or peripheral nervous system. Not all germinomas secrete tumor biomarkers, making them difficult to diagnose without a biopsy or resection with pathohistological examination. Here, we highlight an extremely rare case of a primary seminoma originating in the cervical spinal cord with a presenting symptom of progressive dysphagia.

Case Description/Methods: A 29-year-old male with a history of autism, seizure disorder, and type 2 neurofibromatosis presented to the hospital with 2 weeks of progressive dysphagia. He also noted associated hoarseness, intolerance of solid foods, fatigue, and a 15-pound weight loss. Before arrival, he had a witnessed seizure that prompted thorough neuroimaging. This revealed multiple intracranial lesions, bilateral extra-axial lesions centered within the internal auditory canals, and a spinal cord tumor at the left C3-C4 region causing a mass effect on the spinal cord. It was presumed that the intracranial lesions were from the patient’s known neurofibromatosis. Neurosurgery was consulted and performed a C3-C5 laminectomy and spinal cord tumor resection, where pathology was concerning for seminoma. Due to his extremely rare presentation, a second opinion of the pathology was sent to John Hopkins which confirmed the diagnosis of a primary germinoma of the spine. CT scan of chest, abdomen, and pelvis was unrevealing for metastatic disease. Ultrasound of the testicles was without clear evidence of testicular cancer. Further lab work revealed a mildly elevated b-HCG 3 mIU/mL and LDH 279 U/L. Due to his progressive dysphagia and recent spinal cord surgery, he underwent gastrostomy tube placement to aid in nutrition and port placement for future chemotherapy. He was discharged to follow up with hematology-oncology.

Discussion: Primary germ cell tumors of the spinal cord account for 1% of CNS tumors in the US and Europe, with 12.5% in East Asia. Many of the tumors originate in the thoracic and lumbar regions of the spine and later present in the cervical spine. Although not as frequent in white populations, germinomas should be considered in the differential diagnosis in cases of young, adult patients presenting with specific neurological deficits. This case highlights the importance of an early diagnosis of primary seminomas and providing adequate cord decompression with surgery and biopsy, followed by local radiation and chemotherapy to ensure remission.


Disclosures:


Rachel Patel, DO¹, Amanda Jacubowsky, DO², Nicholas Lamparella, DO², Paul Palyca, MD². P0555 - A Rare Case of Primary Germinoma of the Spinal Cord Causing Progressive Dysphagia, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.