RELA fusion-positive ependymoma

Orpha code: 530792OMIM code:

Definition

A rare ependymal tumor characterized by the presence of a <i>RELA</i> fusion gene. This supratentorial grade II or III ependymoma most often occurs in children and young adults. Histopathological features are variable, but a distinctive vascular pattern of branching capillaries or clear-cell change are common. Patients may present with focal neurological deficits, seizures, or features of raised intracranial pressure. Prognosis is worse than in other supratentorial ependymomas.

Disease data
Classification

Disease

Synonyms
Supratentorial C11ORF95-RELA fused ependymoma
Supratentorial C11ORF95-RELA fused ependymoma
ORPHA code
530792
OMIM code
-
ICD10 code
C71.0
ICD11 code
-

No additional description.

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