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Primary Pineal Rhabdomyosarcoma: A Rare Case.

Mihir Mohan Vaidya¹, Asha Sharad Shenoy², Naina Atul Goel²

¹Department of Neuropathology, Seth G.S.M.C, Mumbai, Maharashtra, India.

Asian Journal of Neurosurgery

|January 7, 2020

Summary

Primary pineal rhabdomyosarcoma (RMS) is an exceptionally rare tumor. This case highlights the diagnostic challenges and confirms RMS as a rare cause of pineal region tumors in children.

Keywords:

Desmin myogenin pineal gland rhabdomyosarcoma

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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.