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A case of intraocular yolk sac tumor in a child and its pathogenesis
Takahiro Fujino1, Akiko Okamura, Yoshikazu Hatsukawa
1Department of Ophthalmology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. takuan@med.u-toyama.ac.jp
Insights
Intraocular yolk sac tumors are rare in children. This case highlights a potential embryonic origin during neural tube formation, offering insights into extragonadal germ cell tumor development.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Developmental Biology
Background:
- Yolk sac tumors are common pediatric malignant germ cell tumors.
- Extragonadal yolk sac tumors are exceptionally rare.
- Intraocular involvement presents unique diagnostic and therapeutic challenges.
Observation:
- A 4-year-old boy presented with an intraocular yolk sac tumor.
- Diagnosis was confirmed via histology and serum alpha-fetoprotein levels.
- Tumor markers normalized post-enucleation.
Findings:
- Histologic examination confirmed the yolk sac tumor.
- Rapid normalization of serum alpha-fetoprotein post-enucleation supported the diagnosis.
- The tumor's presence in the eye suggests an early embryonic origin.
Implications:
- This case suggests yolk sac cells may migrate to the eye during embryonic development.
- Early embryonic migration during neural tube formation is a proposed mechanism.
- Understanding extragonadal tumor origins aids in early diagnosis and treatment strategies.
Abstract:
While yolk sac tumor is one of the most common malignant germ cell tumors occurring in young children, it is rarely found in extragonadal sites. We report a case of intraocular yolk sac tumor in a 4-year-old boy. The diagnosis was confirmed by histologic examination and by the rapid normalization of serum alpha-fetoprotein level following enucleation. We propose that yolk sac cells can potentially migrate into the eye at 22 days of embryonic life during neural tube formation, when the head and tail of the neuropore open contemporaneously and communicate with the amniotic cavity.
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