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

  • Case Report - Brain Tumors
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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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Authors and Affiliations

  1. Department of Neurosurgery, Faculty of Medicine, Ain Shams University, Cairo, Egypt

    Mina M. Gerges

  2. Department of Neurosurgery Surgery, Weill Cornell Medicine, NewYork-Presbyterian Hospital, 525 East 68th St., Box 99, New York, NY, 10065, USA

    Mina M. Gerges, Saniya S. Godil, Kavelin Rumalla & Theodore H. Schwartz

  3. Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, TN, USA

    Saniya S. Godil

  4. School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA

    Kavelin Rumalla

  5. Department of Pathology and Laboratory Medicine, Pathology and Laboratory Medicine, Weill Cornell Medicine, NewYork-Presbyterian Hospital, New York, NY, USA

    Benjamin Liechty & David J. Pisapia

  6. Department of Neurology, Weill Cornell Medicine, NewYork-Presbyterian Hospital, New York, NY, USA

    Rajiv S. Magge

  7. Department of Otolaryngology, Weill Cornell Medicine, NewYork-Presbyterian Hospital, New York, NY, USA

    Theodore H. Schwartz

  8. Department of Neuroscience, Weill Cornell Medicine, NewYork-Presbyterian Hospital, New York, NY, USA

    Theodore H. Schwartz

Authors
  1. Mina M. Gerges
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  2. Saniya S. Godil
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  3. Kavelin Rumalla
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  4. Benjamin Liechty
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  5. David J. Pisapia
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  6. Rajiv S. Magge
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  7. Theodore H. Schwartz
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Correspondence to Theodore H. Schwartz.

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Gerges, M.M., Godil, S.S., Rumalla, K. et al. Genomic profile of a primary squamous cell carcinoma arising from malignant transformation of a pineal epidermoid cyst. Acta Neurochir 161, 1829–1834 (2019). https://doi.org/10.1007/s00701-019-03983-5

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  • DOI: https://doi.org/10.1007/s00701-019-03983-5

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