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.