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Genomic profile of a primary squamous cell carcinoma arising from malignant transformation of a pineal epidermoid cyst.

TitleGenomic profile of a primary squamous cell carcinoma arising from malignant transformation of a pineal epidermoid cyst.
Publication TypeJournal Article
Year of Publication2019
AuthorsGerges MM, Godil SS, Rumalla K, Liechty B, Pisapia DJ, Magge RS, Schwartz TH
JournalActa Neurochir (Wien)
Volume161
Issue9
Pagination1829-1834
Date Published2019 09
ISSN0942-0940
KeywordsAged, Brain Neoplasms, Carcinoma, Squamous Cell, Cell Transformation, Neoplastic, Cerebellopontine Angle, Epidermal Cyst, Female, Gene Expression Profiling, Humans, Magnetic Resonance Imaging, Pinealoma, Positron-Emission Tomography, Postoperative Care, Tomography, X-Ray Computed, Treatment Outcome
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.

DOI10.1007/s00701-019-03983-5
Alternate JournalActa Neurochir (Wien)
PubMed ID31267186