| Autor: |
Manal El-Mahdy, Emily Sloan, David Solomon, Arie Perry, Khaled El-Bahy |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Human Pathology: Case Reports, Vol 22, Iss , Pp 200435- (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2214-3300 |
| DOI: |
10.1016/j.ehpc.2020.200435 |
| Popis: |
Embryonal tumor with multilayered rosettes (ETMR) is an aggressive central nervous system (CNS) embryonal tumor with alterations in the chromosome 19q13.42 microRNA cluster (C19MC) and resultant overexpression of the LIN28A protein. Although the prior world health organization (WHO) recognized 3 distinct histopathological entities-embryonal tumour with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma, it now combines most of these under the rubric of ETMR, C19MC-altered based on recent studies indicating a common molecular profile and clinical course.We present a case of ETMR located in the left frontal lobe in a 3-year-old girl with extracranial extension and an associated extensive desmoplastic stromal reaction. The child complained of seizure, vomiting and headache. MRI showed a huge heterogenous left frontal mass infiltrating the skull with extracranial soft tissue infiltration. The diagnosis of ETMR was established based on histopathologic, immunohistochemical and molecular features. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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