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

Overview

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.

publication date

  • July 2, 2019

Research

keywords

  • Brain Neoplasms
  • Carcinoma, Squamous Cell
  • Cell Transformation, Neoplastic
  • Epidermal Cyst
  • Pinealoma

Identity

Scopus Document Identifier

  • 85068783032

Digital Object Identifier (DOI)

  • 10.1007/s11910-014-0481-5

PubMed ID

  • 31267186

Additional Document Info

volume

  • 161

issue

  • 9