Spinal cord gliosarcoma with rhabdomyoblastic differentiation: a case report

Area of Science:

• Pediatric Oncology
• Neuropathology
• Rare Tumors

Background:

• Gliosarcoma (GS) is a rare malignant brain tumor.
• Spinal cord gliosarcomas, especially in young patients with rhabdomyoblastic differentiation, are exceptionally uncommon.
• Limited data exists on the clinical, pathological, and prognostic features of these rare pediatric spinal cord tumors.

Observation:

• A 6-year-old girl presented with a C1-C6 spinal cord gliosarcoma exhibiting rhabdomyoblastic differentiation.
• Histopathological analysis revealed both glioblastoma and malignant mesenchymal components with rhabdoid morphology.
• Immunohistochemistry confirmed rhabdomyoblastic differentiation (desmin, MyoD1, myogenin, Vimentin positive).
• Genetic analysis showed no PTEN loss or EGFR amplification.
• INI-1 protein was focally lost in rhabdomyoblastic cells and present in glial cells, with monosomy 22 observed in the former.

Findings:

• This represents the first reported case of spinal cord gliosarcoma with rhabdomyoblastic differentiation primarily developing at such a young age.
• The tumor exhibited distinct immunohistochemical and genetic profiles in its glial and mesenchymal components.
• The patient's outcome was poor, with survival of only 6 months despite low-dose radiotherapy.

Implications:

• Spinal cord gliosarcomas with rhabdomyoblastic differentiation may have a worse prognosis than conventional gliosarcomas.
• Aggressive treatment strategies, potentially including high-dose radiotherapy, should be considered for these rare pediatric tumors.
• Further research is warranted to understand the unique biology and optimize treatment for pediatric spinal cord gliosarcomas.