Yolk sac tumor of central nervous system

Yolk sac tumor of the central nervous system (CNS), also known as endodermal sinus tumor of the CNS, is a rare malignant intracranial germ cell tumor. It belongs to the broader category of non-germinomatous germ cell tumors and arises from cells that resemble the embryonic yolk sac. This tumor most commonly occurs in the pineal region or suprasellar area of the brain, though it can also arise in other midline CNS locations. It predominantly affects children and adolescents, with a male predominance. Clinically, yolk sac tumors of the CNS present with symptoms related to increased intracranial pressure, including headaches, nausea, vomiting, and visual disturbances. Tumors in the pineal region may cause Parinaud syndrome (upward gaze palsy) and obstructive hydrocephalus, while suprasellar tumors can lead to diabetes insipidus, hormonal deficiencies, and visual field defects. A hallmark diagnostic feature is markedly elevated alpha-fetoprotein (AFP) levels in both serum and cerebrospinal fluid, which serves as a reliable tumor marker for diagnosis and monitoring treatment response. Treatment typically involves a multimodal approach combining surgical resection (when feasible), platinum-based chemotherapy, and craniospinal or focal radiation therapy. Complete surgical removal is often difficult due to the tumor's deep midline location and infiltrative nature, making chemotherapy and radiation essential components of treatment. Prognosis has improved significantly with modern combined therapy, though outcomes remain less favorable compared to pure germinomas. Long-term follow-up is necessary to monitor for recurrence and treatment-related late effects, including endocrine dysfunction and neurocognitive impairment.

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