ArticleActa neurochirurgica2019
Genomic profile of a primary squamous cell carcinoma arising from malignant transformation of a pineal epidermoid cyst.
Article in Acta neurochirurgica, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 14 citations in OpenAlex.
- Long-term follow up of malignant transformation of epidermoid cyst at the cerebellopontine angle based on serial imaging findings; A case report and literature review.International cancer conference journal · 2026Article
- Clinical presentation, imaging features and surgical outcomes of pineal region epidermoid cysts: A scoping review.Neurosurgical review · 2026Article
- Paired molecular profiling of malignant transformation of an epidermoid cyst for potential genetic drivers: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration: A case report.World journal of clinical oncology · 2024Article
- The imaging dynamic changes in the malignant transformation of an epidermoid cyst: a case report and literature review.Frontiers in neurology · 2024Article
- Primary Squamous Cell Carcinomas Arising in Intracranial Epidermoid Cysts: A Series of Nine Cases and Systematic Review.Frontiers in oncology · 2021Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Malignant transformation of intracranial epidermoid cysts is a rare occurrence. We present the second case of such an event occurring in the pineal region and the first case sent for detailed genomic profiling. MRI demonstrated two lesions: a cyst in a quadrigeminal cistern with restricted diffusion on DWI-weighted images and an adjacent, peripherally enhancing tumor with cerebellar infiltration. Both the lesions were completely resected with a small residual of the epidermoid cyst. The final pathology of both lesions was consistent with epidermoid cyst and squamous cell carcinoma (SCC), respectively. The tumor specimen was sent for comprehensive genomic profiling which revealed stable microsatellite status and loss of CDKN2A/B, MTAP (exons 2-8), and PTEN (exons 6-9). Although reports of primary SCC originating from the epidermoid cyst have been previously described, this is the first description of the genomic profile of such a tumor.
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