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Supratentorial ependymoma with YAP1:FAM118B fusion: A case report
Jian Wang1, Liang Wang1, Lin Fu1
1Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, China.
Abstract:
We report a case of a 26-year-old Chinese man who had experienced three grand mal seizures in the past two months. Magnetic resonance imaging revealed a relatively well-circumscribed lesion in the left frontal lobe. A craniotomy with total excision of the tumor was performed. Histopathological investigations confirmed a grade 2 ependymoma according to the World Health Organization classification. Genetic analysis revealed a tumor harboring FAM118B fusion to YAP1, and no other genetic alterations or methylation of the O6 -methylguanine-DNA methyltransferase gene promoter were detected. This is the second case report of ependymoma with YAP1:FAM118B fusion.
Insights
This study details a rare case of a grade 2 ependymoma in a young man, characterized by a unique YAP1:FAM118B gene fusion. This finding contributes to understanding rare brain tumors and their genetic underpinnings.
Area of Science:
- Neuro-oncology
- Molecular Genetics
- Neurosurgery
Background:
- Ependymomas are tumors arising from ependymal cells in the central nervous system.
- While typically graded by the World Health Organization (WHO), molecular markers are increasingly important for classification and prognosis.
- YAP1 fusions are emerging as significant drivers in certain tumor types.
Observation:
- A 26-year-old male presented with recurrent grand mal seizures.
- Neuroimaging identified a well-circumscribed lesion in the left frontal lobe.
- Surgical resection was performed, and histopathology confirmed a WHO grade 2 ependymoma.
Findings:
- Genetic analysis revealed a novel YAP1:FAM118B gene fusion within the tumor.
- No other significant genetic alterations or MGMT promoter methylation were detected.
- This represents the second reported case of an ependymoma harboring the YAP1:FAM118B fusion.
Implications:
- This case expands the known spectrum of molecular alterations in ependymomas.
- The YAP1:FAM118B fusion may represent a distinct molecular subtype of ependymoma.
- Further research is needed to elucidate the role of this fusion in ependymoma pathogenesis and treatment strategies.
