Case Report of an Unclassifiable Cerebellar Tumor with CCDC6::RET Fusion

A single clinical case report details a rare, aggressive brain tumor in a 20-year-old woman. The report includes histopathology, immunophenotyping, and next-generation sequencing results identifying specific genetic alterations. The case was authored by Moksada Regmi and published on figshare in April 2026.

Use Cases

• Analyze the clinical presentation features of positional vertigo, occipital headaches, and gait ataxia in cerebellar tumors.
• Study the correlation between histopathologic findings like high Ki-67 index (>80%) and rapid tumor recurrence.
• Investigate the clinical relevance of the identified CCDC6::RET fusion and TP53 mutation in high-grade neuroepithelial tumors.
• Review the diagnostic challenges posed by tumors lacking expression of markers for common WHO-defined entities.

Strengths

• Includes detailed molecular profiling data from DNA and RNA next-generation sequencing.
• Provides comprehensive clinical timeline from presentation to death five months post-diagnosis.

Limitations

• Contains data from only one patient case, offering no statistical power.
• Dataset is a 28.3 KB DOCX file, limiting structured computational analysis.

Provenance

Source

figshare, authored by Moksada Regmi.

Collection Method

Clinical case documentation from patient diagnosis and treatment.

Time Range

Covers the patient's clinical course from presentation to death.

Freshness

Last updated April 2026.