Case Report of Unclassifiable Cerebellar Tumor with CCDC6-RET Fusion

Moksada Regmi published a detailed case report on figshare in April 2026. It documents the clinical, imaging, histopathologic, and molecular profile of a single, rare high-grade neuroepithelial tumor in a 20-year-old woman. The report includes specific genetic findings like a CCDC6::RET fusion and TP53 mutation.

Use Cases

• Analyze the correlation between the CCDC6::RET fusion gene and aggressive clinical outcomes like rapid recurrence and leptomeningeal dissemination.
• Study the co-occurrence of specific genetic alterations, such as TP53 p.R175H mutation with CDK4 and AURKA amplification, in a single tumor case.
• Use the detailed histopathology description, including Ki-67 index exceeding 80%, to benchmark similar undifferentiated high-grade neuroepithelial malignancies.
• Reference the specific neuroimaging features (e.g., 3.7 x 4.2 x 3.3 cm mass, obstructive hydrocephalus) for comparative radiology of cerebellar tumors.

Strengths

• Provides a full, integrated diagnostic workup for a single case, including histopathology, immunophenotyping, and next-generation sequencing results.
• Includes precise quantitative measurements such as tumor dimensions (3.7 x 4.2 x 3.3 cm) and a Ki-67 labeling index exceeding 80%.

Limitations

• Contains data from only one patient case, offering no statistical power for generalization.
• The 1.4 MB file is a single DOCX document, limiting computational analysis without manual data extraction.

Provenance

Source

figshare, authored by Moksada Regmi.

Collection Method

Clinical case report documenting patient presentation, surgical resection, histopathology, and genomic sequencing.

Time Range

Covers the patient's clinical course from presentation to death over approximately five months.

Freshness

Last updated in April 2026, indicating a recent publication.