Genomic profile of a primary squamous cell carcinoma arising from malignant transformation of a pineal epidermoid cyst.
Aged
Brain Neoplasms
/ diagnostic imaging
Carcinoma, Squamous Cell
/ diagnostic imaging
Cell Transformation, Neoplastic
/ genetics
Cerebellopontine Angle
Epidermal Cyst
/ diagnostic imaging
Female
Gene Expression Profiling
Humans
Magnetic Resonance Imaging
Pinealoma
/ diagnostic imaging
Positron-Emission Tomography
Postoperative Care
Tomography, X-Ray Computed
Treatment Outcome
Epidermoid cyst
Malignant transformation
Pineal
Primary SCC
Journal
Acta neurochirurgica
ISSN: 0942-0940
Titre abrégé: Acta Neurochir (Wien)
Pays: Austria
ID NLM: 0151000
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
28
05
2019
accepted:
11
06
2019
pubmed:
4
7
2019
medline:
27
5
2020
entrez:
4
7
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31267186
doi: 10.1007/s00701-019-03983-5
pii: 10.1007/s00701-019-03983-5
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1829-1834Références
Bhatoe H, Mukherji J, Dutta VJ (2006) Epidermoid tumour of the lateral ventricle. Acta Neurochir 148:339–342
doi: 10.1007/s00701-005-0678-0
pubmed: 16311839
Friede RL (2012) Developmental neuropathology. Springer Science & Business Media
Garcia CA, McGarry PA, Rodriguez FJJ (1981) Primary intracranial squamous cell carcinoma of the right cerebellopontine angle: case report. 54:824–828
Hamlat A, Hua ZF, Saikali S, Laurent JF, Gedouin D, Ben-Hassel M, Guegan Y (2005) Malignant transformation of intra-cranial epithelial cysts: systematic article review. J Neuro-Oncol 74:187–194. https://doi.org/10.1007/s11060-004-5175-4
doi: 10.1007/s11060-004-5175-4
Hao S, Tang J, Wu Z, Zhang L, Zhang J, Wang Z (2010) Natural malignant transformation of an intracranial epidermoid cyst. J Formos Med Assoc 109:390–396. https://doi.org/10.1016/S0929-6646(10)60068-X
doi: 10.1016/S0929-6646(10)60068-X
pubmed: 20497873
Ikushima I, Korogi Y, Hirai T, Sugahara T, Shigematsu Y, Komohara Y, Okuda T, Takahashi M, Ushio Y (1997) MR of epidermoids with a variety of pulse sequences. AJNR Am J Neuroradiol 18:1359–1363
pubmed: 9282869
Konovalov AN, Spallone A, Pitzkhelauri DI (1999) Pineal epidermoid cysts: diagnosis and management. J Neurosurg 91:370–374. https://doi.org/10.3171/jns.1999.91.3.0370
doi: 10.3171/jns.1999.91.3.0370
pubmed: 10470809
Liu X, Chen Z, Dong Y, He X, Pan X, Tong D (2018) Primary intracranial squamous cell carcinoma arising de novo: a case report and review of the literature. World Neurosurg 120:372–381. https://doi.org/10.1016/j.wneu.2018.08.067
doi: 10.1016/j.wneu.2018.08.067
pubmed: 30144612
Lutful Kabir F, Alvarez C, Bird RJV (2016) Canine mammary carcinomas: a comparative analysis of altered gene expression. 3:1
Nagasawa D, Yew A, Spasic M, Choy W, Gopen Q, Yang I (2012) Survival outcomes for radiotherapy treatment of epidermoid tumors with malignant transformation. J Clin Neurosci 19:21–26. https://doi.org/10.1016/j.jocn.2011.06.002
doi: 10.1016/j.jocn.2011.06.002
pubmed: 22024232
Pagni F, Brenna A, Leone BE, Vergani F, Isimbaldi G (2007) Malignant epidermoid cyst of the pineal region with lumbar metastasis. Neuropathology 27:566–569. https://doi.org/10.1111/j.1440-1789.2007.00820.x
doi: 10.1111/j.1440-1789.2007.00820.x
pubmed: 18021378
Pikis S, Margolin E (2016) Malignant transformation of a residual cerebellopontine angle epidermoid cyst. J Clin Neurosci 33:59–62. https://doi.org/10.1016/j.jocn.2016.04.008
doi: 10.1016/j.jocn.2016.04.008
pubmed: 27519146
Raheja A, Eli IM, Bowers CA, Palmer CA, Couldwell WT (2016) Primary intracranial epidermoid carcinoma with diffuse leptomeningeal carcinomatosis: report of two cases. World Neurosurg 88:692 e699–692 e616. https://doi.org/10.1016/j.wneu.2015.11.039
doi: 10.1016/j.wneu.2015.11.039
Solanki SP, Maccormac O, Dow GR, Smith S (2017) Malignant transformation of residual posterior fossa epidermoid cyst to squamous cell carcinoma. Br J Neurosurg 31:497–498. https://doi.org/10.3109/02688697.2015.1125445
doi: 10.3109/02688697.2015.1125445
pubmed: 26761183
Taillibert S, Le Rhun E, Chamberlain MC (2014) Intracranial cystic lesions: a review. Curr Neurol Neurosci Rep 14:481. https://doi.org/10.1007/s11910-014-0481-5
doi: 10.1007/s11910-014-0481-5
pubmed: 25106500