Table of Contents
Definition / general | Etiology | Clinical features | Radiology description | Case reports | Prognosis and treatment | Gross description | Microscopic (histologic) description | Immunohistochemistry & special stains | Differential diagnosisCite this page: Abdelzaher E. Dysplastic gangliocytoma of the cerebellum. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/cnstumordysplasticgangliocytoma.html. Accessed March 28th, 2024.
Definition / general
- Hamartomatous cerebellar lesion characterized by enlarged cerebellar folia and replacement of internal granular layer by dysplastic ganglion cells (Clin Neurol Neurosurg 2001;103:105, Acta Neurol Scand 2002;105:137)
Etiology
- Due to or associated with germline PTEN mutation (Am J Hum Genet 2003;73:1191)
- PTEN mutations are identified in all adult onset cases but not in childhood onset cases
- Associated with Cowden disease (OMIM: Cowden Syndrome 1; CWS1), an autosomal dominant disorder with trichilemmomas, hamartomas, intestinal polyposis, palmoplantar keratoses, oral papillomas; increased incidence of breast, GU, CNS and thyroid tumors; due to abnormalities in 10q23
Clinical features
- Rare, < 200 cases described
- Usually young adults, may present in childhood
- Presents with dysmetria, headache, ataxia, mass effect
Radiology description
- Unilateral cerebellar affection with distorted architecture and enlarged folia
- Characteristic striped appearance on FLAIR and T2 W MRI images
Case reports
- 16 year old girl with headaches and gait disturbance (University of Pittsburgh: A Cerebellar Mass)
- 44 year old woman with Cowden disease (Can J Neurol Sci 2004;31:542)
Prognosis and treatment
- Surgical resection if symptomatic
- Good prognosis; recurs in 25% of cases but no malignant potential
Gross description
- Discrete region of hypertrophy and coarse gyral pattern
Microscopic (histologic) description
- Relative preservation of cerebellar architecture
- Diffuse enlargement of internal granular layer and molecular layers, with replacement of internal granular layer by dysplastic ganglion cells of different sizes and axonal hypermyelination of molecular layer
- Clear vacuoles in white matter and molecular layer
- Common: calcification and ectatic vessels
- No mitotic figures, no necrosis, no endothelial proliferation
Immunohistochemistry & special stains
- Dysplastic ganglion cells are synaptophysin+ with loss of PTEN protein expression; also are phosphorylated AKT+ and phosphorylated S6+ (indicates AKT / mTOR pathway activation)
Differential diagnosis
- Ganglion cell tumor
- Infiltrating glioma with entrapped neurons