Citation, DOI, disclosures and article data
Citation:
Gaillard F, Weerakkody Y, Baba Y, et al. Pineal yolk sac tumor. Reference article, Radiopaedia.org (Accessed on 06 Mar 2025) https://doi.org/10.53347/rID-6613
Pineal yolk sac tumors are rare type of extragonadal yolk sac tumors. They make up a small fraction of all intracranial germ cell tumors and an even small fraction of pineal masses overall.
CSF biochemistry may demonstrate elevated levels of alpha-fetoprotein (AFP) which is helpful but not diagnostic of yolk sac tumors, as both immature teratomas and embryonal cell carcinomas may also elevate AFP levels 1.
Associations
As with other germ cell tumors, there may be an association with Down syndrome 1-3.
In up to 50% of cases these tumors co-exist with other germ cell tumor histology 4.
No specific imaging findings have been identified, with their appearance being similar to other germ cell tumors of the pineal region 4.
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1. Tan HW, Ty A, Goh SG, Wong MC, Hong A, Chuah KL. Pineal yolk sac tumour with a solid pattern: a case report in a Chinese adult man with Down's syndrome. (2004) Journal of clinical pathology. 57 (8): 882-4. doi:10.1136/jcp.2004.016659 - Pubmed
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2. Nakashima T, Nishimura Y, Sakai N, Yamada H, Hara A. Germinoma in cerebral hemisphere associated with Down syndrome. (1997) Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 13 (10): 563-6. doi:10.1007/s003810050139 - Pubmed
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3. Chik K, Li C, Shing MM, Leung T, Yuen PM. Intracranial germ cell tumors in children with and without Down syndrome. (1999) Journal of pediatric hematology/oncology. 21 (2): 149-51. Pubmed
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4. Smirniotopoulos JG, Rushing EJ, Mena H. Pineal region masses: differential diagnosis. (1992) Radiographics : a review publication of the Radiological Society of North America, Inc. 12 (3): 577-96. doi:10.1148/radiographics.12.3.1609147 - Pubmed
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The pineal region is anatomically complex and plays host to a number of unique masses and tumors as well as potentially affected by many entities seen more frequently elsewhere in the brain.
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