A case of disseminated spinal astroblastoma harboring a MAMLD1::BEND2 fusion.
Neuropathology
; 44(4): 278-284, 2024 Aug.
Article
en En
| MEDLINE
| ID: mdl-38129983
ABSTRACT
Astroblastoma, MN1-altered, is a rare neoplasm of the central nervous system (CNS). This malignancy shares similar histopathological features with other CNS tumors, including ependymomas, making it challenging to diagnose. DNA methylation profiling is a new and robust technique that may be used to overcome this diagnostic hurdle. We report the case of a now 25-year-old female diagnosed with what was initially called an ependymoma located in the cervical spine at the age of 2 years old. After initial resection, the tumor recurred multiple times and within 2 years of diagnosis had disseminated disease throughout the brain and spinal cord. She has now undergone over two decades of treatment, including multiple surgical resections, radiation therapy, and administration of numerous chemotherapeutic agents. In 2021, the patient presented to our institution with lumbosacral radicular symptoms due to enlarging lesions within the lumbosacral spine. Reexamination of formalin-fixed, paraffin-embedded material from the patient's tumor using genomic DNA methylation profiling resulted in a diagnostic change from grade III anaplastic ependymoma to astroblastoma, MN1-altered. This work describes another confirmed case of astroblastoma, MN1-altered, to the growing body of literature.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias de la Médula Espinal
/
Neoplasias Neuroepiteliales
Límite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Neuropathology
Asunto de la revista:
NEUROLOGIA
/
PATOLOGIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos