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Published on: November 17, 2021
[Cerebellar gangliocytoma in an 11-year-old child]
Marie Joly1, Séverine Valmary-Degano2, Françoise Cattin3
1Service d'anatomie et cytologie pathologiques, CHU de Besançon, 3, boulevard Alexandre-Fleming, 25000 Besançon, France.
Insights
This study presents an 11-year-old patient with cerebellar gangliocytoma, a rare tumor. The findings highlight key diagnostic features and differentiate it from similar conditions, aiding in understanding pediatric brain tumors.
Area of Science:
- Neuropathology
- Pediatric Oncology
- Neuro-oncology
Background:
- Cerebellar gangliocytoma is a rare tumor, often associated with Lhermitte-Duclos disease or pediatric brain tumors.
- Gangliogliomas/gangliocytomas are typically found in the temporal lobe and linked to epilepsy.
Observation:
- An 11-year-old patient presented with neurological symptoms including headache, dyspraxia, and gait disturbances.
- The cerebellar tumor was diagnosed histopathologically as gangliocytoma, featuring dysplastic ganglion cells and lymphocytic infiltrates.
- Immunohistochemistry confirmed neuronal markers and the absence of BRAF V600E mutation.
Findings:
- The tumor lacked a glial neoplastic component, distinguishing it from typical gangliogliomas.
- Immunohistochemical analysis revealed expression of neurofilaments, MAP2, synaptophysin, chromogranin A, and S100 protein in ganglion cells.
- Absence of BRAF V600E mutation was noted.
Implications:
- This case contributes to the understanding of rare cerebellar gangliocytomas in pediatric patients.
- Accurate histopathological and molecular diagnosis is crucial for differentiating gangliocytoma from other brain tumors.
- Further research may elucidate the specific pathogenesis and optimal management strategies for this tumor type.
Abstract:
Cerebellar gangliocytoma can correspond to Lhermitte-Duclos disease, a benign hamartomatous malformation encountered in young adults. It can also be a part of gangliogliomas/gangliocytomas family, which usually encompasses temporal pediatric neoplasms associated with longstanding seizures. We report a case of a young 11-year-old patient who presented with a gangliocytoma of the cerebellum revealed by neurologic manifestations (headache, dyspraxia, equilibrium and gait disturbances). Diagnosis was made on surgical material. Tumour was characterized by dysplastic mature ganglion cells, perivascular lymphocytic infiltrates and no glial neoplastic component. By immunohistochemistry, ganglion cells expressed neurofilaments, MAP2 protein, synaptophysin, chromogranin A and S100 protein. BRAF V600E mutation was absent. Clinical characteristics, radiology, histopathology of the two main diagnoses are discussed.
