Primary Pineal Rhabdomyosarcoma: A Rare Case

Area of Science:

• Pediatric Oncology
• Neuro-oncology
• Rare Tumors

Background:

• Primary pineal rhabdomyosarcoma (RMS) is exceedingly rare, with limited documented cases.
• Pineal region tumors can present with diverse neurological symptoms.

Observation:

• A 12-year-old male presented with diplopia, vision loss, and facial paresis.
• MRI revealed a pineal region mass.
• Histopathology showed a highly cellular tumor with rhabdomyoblast-like cells and giant cells.

Findings:

• Immunohistochemistry confirmed RMS with positive desmin and focal myogenin positivity.
• Differential diagnoses included pineal anlage tumor.
• Markers for germ cell tumors and glial tumors were negative, and INI1 was retained.

Implications:

• This case expands the understanding of rare pineal region malignancies.
• Accurate diagnosis of pediatric pineal RMS is crucial for appropriate management.
• Highlights the importance of comprehensive immunohistochemical analysis in challenging pediatric brain tumors.