CNS tumor
Neuronal and mixed neuronal-glial tumors
Dysplastic gangliocytoma of the cerebellum


Topic Completed: 1 August 2013

Minor changes: 28 September 2020

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PubMed Search: Dysplastic gangliocytoma of the cerebellum [title]

Eman Abdelzaher, M.D., Ph.D.
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Cite this page: Abdelzaher E. Dysplastic gangliocytoma of the cerebellum. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/cnstumordysplasticgangliocytoma.html. Accessed September 29th, 2020.
Definition / general
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
Radiology images

Images hosted on other servers:

Axial T1-weighted image show striated appearance

Case reports
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
  • 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
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