Spinal Cord Ependymomas With MYCN Amplification Show Aggressive Clinical Behavior

Area of Science:

• Neuro-oncology
• Molecular Pathology
• Genetics

Background:

• Spinal cord ependymomas are typically low-grade with good prognosis after resection.
• Anaplastic ependymomas (WHO grade III) are rare and aggressive.
• MYCN amplification is an exceptionally rare finding in ependymomas.

Purpose of the Study:

• To report cases of anaplastic spinal cord ependymomas with MYCN amplification.
• To investigate the association between MYCN amplification, tumor characteristics, and clinical outcomes.

Main Methods:

• Case series analysis of four patients with anaplastic spinal cord ependymoma.
• Morphological and immunohistochemical evaluation.
• Chromosomal microarray analysis to detect MYCN amplification (2p24 locus).

Main Results:

• All four cases showed MYCN amplification in spinal cord anaplastic ependymomas (WHO grade III) in young women.
• Previously reported cases with MYCN amplification were also spinal, anaplastic, and in adult females.
• Outcomes included rapid mortality, metastasis, and multiple relapses, indicating an unfavorable prognosis.

Conclusions:

• MYCN amplification in spinal cord ependymomas is rare but associated with higher-grade histology (WHO grade III).
• This genetic finding appears linked to spinal location and an aggressive clinical course with poor prognosis.
• Further research is needed to understand the clinical significance and therapeutic implications of MYCN amplification in ependymomas.